الخميس، 30 مايو 2013

MCQs In Electrolyte Disorders

Q1 


You are evaluating a 2-week-old breastfed infant who is 15% below his birthweight and has been
lethargic and fed poorly over the past 4 days. You administer a normal saline fluid bolus.
Laboratory results include:
· Blood glucose of 126.0 mg/dl (7.0 mmol/L)
· Serum sodium of 170.0 mEq/L (170.0 mmol/L)
· Serum potassium of 5.0 mEq/L (5.0 mmol/L)
· Blood urea nitrogen of 31.0 mg/dL (11.1 mmol/L)
· Serum creatinine of 2.9 mg/dL (256.4 mcmol/L)
Of the following, the MOST appropriate initial fluid for correction is a solution containing 5%
dextrose and\

A. NaCl (%): 0.20
KCl (mEq/L): 40
Duration of Infusion(hr): 12 to 24
B. NaCl (%): 0.45
KCl (mEq/L): 0
Duration of Infusion(hr): 48 to 72
C. NaCl (%): 0.45
KCl (mEq/L): 40
Duration of Infusion(hr): 12 to 24
D. NaCl (%): 0.9
KCl (mEq/L): 0
Duration of Infusion(hr): 12 to 24
E. NaCl (%): 0.9
KCl (mEq/L): 40
Duration of Infusion(hr): 48 to 72



Answer:

B


 Hypernatremia results from excessive sodium administration (incorrectly mixed formula, sodium bicarbonate, hypertonic saline) or a deficit of water in relation to sodium. Such a deficit may occur from decreased water intake (inadequate breastfeeding, fluid restriction, lack of access to fluids), fluid losses (nephrogenic and central diabetes insipidus, increased insensible losses), or fluid losses in greater proportion than sodium losses (diarrhea, vomiting, diuretic use, burns).

Treatment of hypernatremia is directed at correction of both the serum sodium
concentration and the circulatory volume. Initially, some children may require isotonic fluid
boluses to restore circulation. It is important to note that children who have hypernatremia often
appear less dehydrated than they actually are due to preservation of the extracellular volume.
The following equation can be used to estimate the free water deficit:
Water deficit (mL)= 4 mL x ideal body weight (kg) x desired change in serum sodium
concentration

Hypernatremia, especially if chronic, should be corrected slowly, with a desired goal of
decreasing the serum sodium by 0.5 mEq/L per hour to avoid cerebral edema. Severe
hypernatremia (serum sodium >170.0 mEq/L [170.0 mmol/L]), as described for the child in the
vignette, should be corrected over 48 to 72 hours. Fluid administration generally consists of 1/4
to 1/2 normal saline solutions. Symptoms of overcorrection, such as changes in mental status or
onset of seizures, suggest the development of cerebral edema and should be treated with
hypertonic saline and slowing of the sodium correction. In general, potassium administration
should be withheld in cases of severe hypernatremic dehydration until adequate urine output is
assured









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الثلاثاء، 28 مايو 2013

MCQs In Metabolic Diseases

Q1:

The pregnant mother of a child in your practice recently learned that her grandmother had a
child who died of "probable metabolic disease" at 2 days of age. She does not know details, and
medical records on that child no longer are available. The mother asks if her pregnancy can be
tested to see if the fetus could be affected with the same disorder.
Of the following, the MOST accurate statement regarding metabolic disease in the prenatal
setting is that

A. fetuses affected with metabolic diseases are unlikely to come to term
B. knowing the parents’ ethnic backgrounds aids in determining which tests should be offered
C. level 2 ultrasonography during the second trimester is likely to be helpful in detecting metabolic
disease
D. poor fetal growth is common in metabolic diseases
E. prenatal metabolic screening panels are widely available

Answer

B

The vignette highlights the importance of accessing as much information as possible
regarding family members who die from metabolic causes. Even if a diagnosis cannot be made
in a particular instance, medical records may be helpful in offering the expectant couple
guidance or in making a diagnosis posthumously. Taking a careful family history, with attention
to familial ethnic, religious, and geographic origins, may bring to light conditions that are likely to
run in families. For example, because of the high carrier rate for some metabolic diseases,
parents of Ashkenazi Jewish descent, whose ancestors originated from Eastern Europe, are at
increased risk for having children affected by Tay-Sachs disease  and people of
French-Canadian heritage are at increased risk for having children affected by tyrosinemia.

Cases


A 3 year old male child born of non consanguineous marriage presented with bilateral cataracts since 10 months. Birth history and milestones were normal. There was no jaundice, failure to thrive or dysmorphic features. On examination, apart from bilateral white reflex, other systems were normal.


Question :

How to approach such a case_?

Answer 

Causes of cataracts in a child are varied and include intrauterine infections, genetic disorders, metabolic disorders, hypoparathyroidism and even prematurity. This child has no prematurity, dysmorphic features or delayed milestones. 

Thus, most likely cause of cataract in this child would be metabolic disorder. Common metabolic disorders leading to white cataract are:

 • Hypoparathyroidism 
• Galactosemia 
• Lowe’s syndrome 
• Diabetes mellitus

 In this child, since there is no jaundice or hepatomegaly, galactosemia type 1 and 3 seem unlikely. 

Lowe’s syndrome is associated with RTA and mental retardation. 

Diabetes mellitus would have additional features of polyuria, polydipsia. Thus in this child, one must rule out Hypoparathyroidism. 

The calcium, phosphorus, alkaline phosphatase in this child was normal. Galactosemia type 2 is a possibility and one must do the galactokinase enzyme levels.

 Galactosemia workup for galactokinase deficiency was positive.

الاثنين، 27 مايو 2013

MCQs In Muscular diseases

Q1 :

A 6-year-old boy has had difficulty walking and lower leg pain for 2 days. Five days ago, he had
fever and cough that had lasted for 3 days. On physical examination, the child has no fever, and
vital signs are normal, as are cranial nerves, speech, and language. Muscle bulk, tone, and
reflexes are normal and symmetric, but his lower legs are painful to palpation. Serum creatine
kinase is 2,000 U/L, and urine is negative for myoglobin.
Of the following, the MOST likely diagnosis is

A. dermatomyositis
B. Duchenne muscular dystrophy
C. Guillain-Barré syndrome
D. metabolic myopathy
E. viral myositis

Answer

E


A gait disturbance, such as described for the boy in the vignette, can result from a variety of
potentially serious disease processes and, therefore, requires urgent evaluation. The muscle
pain and otherwise normal neurologic findings prompted measurement of serum creatine kinase,
which can help to localize the problem rapidly. The prodrome of an upper respiratory tract illness
and rapid onset of symptoms is suggestive of viral myositis.

Dermatomyositis is a more indolent, chronic process and should not present acutely with
muscle pain. Moreover, dermatomyositis is characterized by specific skin findings such as the
heliotrope rash over the eyelids and Gottron papules .

 Duchenne muscular dystrophy presents with more chronic weakness. Although Guillain-Barré syndrome
can present with pain and weakness, the preserved reflexes, focal pain over the leg muscles, and elevated creatine kinase value are not consistent with that diagnosis. Metabolic myopathies due to mitochondrial dysfunction can present with acute pain, weakness, tender muscles, and rhabdomyolysis. However, the prevalence is much lower than viral myositis. Influenza A and B and enteroviruses may cause viral myositis.


الأحد، 26 مايو 2013

MCQs In Pediatric Cardiology Part II

Q 1:

You are evaluating a 12-year-old boy in the emergency department who presents with fever,
chills, malaise, and blood in his urine. On physical examination, he appears comfortable and alert
and has a temperature of 102.7°F (39.3°C), a blood pressure of 110/40 mm Hg, no rashes, and
clear breath sounds. He has a diastolic murmur heard best in the sitting position (Item Q133).
You elicit no abdominal or flank tenderness.
Of the following, the BEST next step in the management of this patient is

A. administration of broad-spectrum antibiotics
B. blood cultures
C. renal ultrasonography
D. transesophageal echocardiography
E. urine culture

Answer

B


The patient described in the vignette has history and physical examination findings that are
highly suggestive of infective endocarditis. These include symptoms of chills and malaise; a
history of fever; and the findings of hematuria, a new murmur, and fever. Typically, the diagnosis
is confirmed by isolation of the offending organism from blood cultures. Blood cultures from three
to five sites should be obtained prior to initiation of antibiotic therapy. Because the bacterial
shedding is constant, the practitioner should not wait until the patient is febrile to obtain blood
cultures. Viridans streptococci (eg, S bovis, S mitis) as well as Staphylococcus aureus are the
most common bacterial pathogens causing endocarditis in children. However, clinicians must be
concerned about organisms such as Enterococcus, coagulase-negative Staphylococcus, fungi,
and a group of bacteria referred to as the HACEK organisms (Haemophilus sp, Actinobacillus
actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, and Kingella kingae).

The HACEK organisms are gram-negative oral and pharyngeal flora that are fastidious and slow growing,
often requiring growth factors and carbon dioxide to be isolated in cultures.

Treatment of endocarditis depends on the isolated organism. In general, long-term antibiotic
treatment (4 to 6 weeks) is undertaken in an effort to eradicate completely the bacteria that have
been sequestered in a nonvascular vegetation. Surgery is reserved for patients who develop
severe congestive heart failure from severe valve regurgitation or deterioration.

The boy in the vignette requires intravenous antibiotic treatment, but blood cultures should
be obtained before therapy is begun. He also should undergo echocardiography, which may be
performed from the transesophageal approach to improve the sensitivity, but similar to renal
ultrasonography, such a study is performed after blood cultures have been obtained. The
absence of vegetation at the time of echocardiography does not rule out a diagnosis of infective
endocarditis. Patients who have infective endocarditis may exhibit hematuria from the deposition
of immune complexes resulting in glomerulonephritis. Although fever and hematuria may be
associated with urinary tract infection, the presence of a diastolic murmur and absence of
urinary symptoms make such a diagnosis unlikely.

------

Q2:

 A 5-year-old full term male infant was severely cyanotic at birth. Prostaglandin E was administered
initially and later balloon atrial septostomy was done which showed improvement in oxygenation. The most
likely diagnosis of this infant is:

a. Tetralogy of Fallot
b. Transposition of great vessels
c. Truncus arteriosis
d. Tricuspid atresia
e. PDA


Answer

B

Q 3:

Which one of the following CHD has cyanosis without cardiomegaly and/or CCF?

a. TGV
b. TOF
c. Congenital MR
d. Congenital PS


Answer

B

Q 4:

One-year-old child with PDA; which is true:

a. Symptoms are similar to aortopulmonary window
b. Chances of spontaneous closure is high
c. Indomethacin may help in closure
d. Endocarditis is rare

Answer

A

Q5:

An 8-yr-old male child is admitted with a diagnosis of rheumatic fever with arthritis, carditis and CCF, with
reference to this case, consider the following as initial lines of management:

a. Eradication of remnant streptococcal infection
b. Administration of an anti-inflammatory drug
c. Institution of decongestive therapy
d. Institution of graded and gradually increasing exercise

Answer

C

Q6:

 A young boy had developed CCF, found to have membraneous VSD. He showed spontaneous improvement. This is most likely due to:

a. Perimembraneous closure of VSD
b. Development of AR
c. Pulmonary vascular changes
d. Infective endocarditis

Answer

C


---------------------------

Q 7

A full-term newborn develops cyanosis a few hours after birth. Oxygen administration does
not improve color or oxygen saturations. Which of the following is the most likely diagnosis?

(A) atrial septal defect
(B) ventricular septal defect
(C) patent ductus arteriosus
(D) aortic stenosis
(E) pulmonary stenosis


السبت، 25 مايو 2013

MCQs In Pediatric Toxicology

Q1 : 

A resident in continuity clinic approaches you to review the laboratory values obtained at a
patient’s 12-month health supervision visit. The fingerstick hemoglobin measurement was 10.5
g/dL (105.0 g/L), and the lead concentration was 11.0 mcg/dL (0.53 mcmol/L).
Of the following, the next BEST step for this boy is to

A. admit him to the hospital for chelation therapy
B. call child protective services to move him to a shelter
C. call the health department to arrange for an environmental investigation
D. measure the venous lead concentration
E. refer him for formal developmental evaluation and neuropsychometric testing

Answer:

D

The American Academy of Pediatrics policy statement recommends the use of venous
samples for initial screening whenever possible. If capillary testing is performed and the lead
concentration is greater than 10.0 mcg/dL (0.5 mcmol/L), the lead concentration must be
confirmed by a venous sample because microlead sampling is more likely to yield false-positive
results due to contamination from environmental lead.

Lead ingestion may cause a microcytic anemia by interfering with iron absorption and
utilization in heme production and can inhibit enzymes required for heme synthesis directly.
Children who have lead poisoning may have pica either as a cause or symptom of lead
poisoning. In these children, iron supplementation should be initiated until the presence or
absence of iron deficiency is determined.

Most asymptomatic children who have mildly elevated blood lead concentrations are not
candidates for chelation therapy with the currently available drugs because the toxicity of these
drugs outweighs the potential benefit of treatment, and chelation is unlikely to increase lead
excretion significantly. Chelation therapy should be considered, however, if lead concentrations
are higher than 44.0 mcg/dL (2.12 mcmol/L). The role of chelation is not clearly defined for
children whose blood lead concentrations range from 20.0 to 45.0 mcg/dL (0.97 to 2.17
mcmol/L). In this range, the clinician may choose to pursue further environmental screening,
attempt to eradicate lead from the child's environment, and measure blood lead concentrations
monthly. If the concentration remains in this range, despite successful eradication of the lead
source, the physician should institute behavior modification, nutritional sufficiency, or chelation
treatment.
Succimer is the drug of choice for children whose blood lead concentrations are 45.0 to
100.0 mcg/dL (2.17 to 4.8 mcmol/L). At values higher than 69.0 mcg/dL (3.3 mcmol/L), a second
drug, CaNa2EDTA, is added.

Blood lead concentrations fall precipitously after completion of chelation, but rebound within
weeks, even if there is no further exposure to lead, due to release of lead from bone stores. In
general, the concentrations do not return to the high values seen before chelation, and a second
course of chelation rarely is indicated.

الخميس، 23 مايو 2013

MCQs In Neonatal Ophthalmology

Q 1:

You are treating a former extremely low-gestational age newborn (ELGAN) who was born at 26
weeks’ gestation weighing 700 g. She is now 4 weeks old. Her nurse asks when the eye
examination for retinopathy of prematurity (ROP) will be performed and what risk for significant
visual impairment exists in this infant.
Of the following, the BEST time to obtain the first ROP screening eye examination in this infant is

A. 4 weeks after discharge from the hospital
B. 4 weeks after weaning from oxygen
C. 5 weeks after birth
D. 5 weeks after the expected delivery date
E. 5 weeks after weaning from the ventilator

Answer

C

The American Academy of Pediatrics recommends a specific timetable for testing at-risk
preterm infants . In general, infants should be tested between 31 and 34 weeks
gestational age. Accordingly, the infant described in the vignette should be tested 5 weeks after
birth.

Because most 26 weeks' gestation infants are discharged from the hospital at a gestational
equivalent of 34 to 36 weeks, or 8 to 10 postnatal weeks of age, this would be too late for an
initial examination, as would one occurring 4 weeks later. Many 26 weeks' gestation infants may
have chronic lung disease and be receiving assisted ventilation for days to weeks or be
discharged from the hospital on oxygen, so screening is not based on the time of weaning from
assisted ventilation or oxygen. Five weeks after the expected delivery date is too late for initial
screening.

الأحد، 12 مايو 2013

MCQs in pediatric Allergy Par- II

Q 1-3 :

A 5-year-old girl (weight ¼ 18 kg) is admitted to the paediatric ward with pneumonia. There is a past history of a mild rash after an oral antibiotic but her mother is unable to remember the name of the drug. She is commenced on intravenous co-amoxiclav. Shortly after administration of the first dose, she vomits, begins to feel unwell and looks flushed. Minutes later, she becomes tachypnoiec, hypotensive
and unresponsive.

1. What would be her appropriate emergency management?


A. 5 mg oral chlorpheniramine and if no response after 5 min administer 0.2 ml adrenaline (1:1000) into the
      right thigh muscle
B. 40 mg oral prednisolone followed immediately by 0.2 ml intravenous adrenaline (1:10,000)
C. 5 mg intravenous chlorpheniramine and 50 mg intravenous hydrocortisone, followed immediately by
0.2 ml intramuscular adrenaline (1:1000)
D. 100 mg IV Hydrocortisone, followed immediately by intramuscular Epipen (300 mcg)
E. Intramuscular Epipen (Junior e 150 mcg)

2. Which of the following is the MOST useful test in aiding the diagnosis of anaphylaxis? 

A. Serum Histamine
B. Specific IgE antibodies
C. Skin-prick testing
D. Serum tryptase
E. Coomb’s test
F. Complement levels

3. With regards to antibiotic reactions, which ONE of the following is TRUE?

A. Most antibiotic reactions are IgE mediated
B. In non-IgE mediated antibiotic reactions, there is a clear temporal link to the dose
C. The most commonly involved organ is the skin
D. Provocation testing should be undertaken in all those with a severe reaction
E. Desensitization should be used in all patients who have a severe antibiotic reaction


Answers :


1. E

The first line of treatment in anaphylaxis is administration of an intramuscular dose of Adrenaline (Epinephrine). Premade Adrenaline auto injectors (e.g. Epipen) are in common usage and provide 300 mcg and 150 mcg of Adrenaline in the Epipen and Junior Epipen respectively. A child weighing between 7 and 30 kg should be given an Epipen Junior and those more than 30 kg, the Epipen. The Epipen Junior can be used from 6 months upwards. In infants below 6 months and in situations where an Epipen or similar auto
injector device is not available, a dose of 10 mg/kg (0.01 ml/ kg) of 1:1000 solution should be injected into the thigh.

Early intramuscular Adrenaline administration is key in the treatment of anaphylaxis. Time spent attempting intravenous access, calculating drug doses and drawing up steroids or antihistamines can cause unnecessary delay that can have an adverse effect on outcome. These drugs are not effective in treating acute anaphylaxis but may be beneficial and can be given after the cardiorespiratory status is stabilized using Adrenaline and fluids. The median time to cardiac arrest from anaphylaxis is dependent on the cause.

This can be as short as 5 min in drug induced anaphylaxis, 15 min in venom e triggered anaphylaxis and 30 min in anaphylaxis resulting from food allergy.

2. D

The measurement of serum levels of mast-cell mediators can aid in the diagnosis of anaphylaxis. This can be
particularly useful if the history is not clear. Measurement of histamine is not helpful as the rise is only transient, with peak levels at 1 h following an anaphylactic reaction and
therefore easily missed.

Tryptase is a mast-cell specific protease. Serum levels peak at 1 h and remain elevated for up to 6 h. Raised serum tryptase suggests massive mast-cell degranulation (in the absence of any other predisposing conditions such as mastocytosis). Some cases of anaphylaxis do not display a rise in serum tryptase (e.g. some food-induced anaphylaxis).

These cases are thought to be due to basophilmediated histamine release. Despite this, serum tryptase
elevation is thought to be 95% sensitive and 95% specific for mast-cell mediated anaphylactic reactions.
Whilst skin-prick testing and specific IgE antibody tests (RAST) can both be used to detect specific IgE antibodies to allergens, neither is diagnostic of anaphylaxis. Additionally, their role in antibiotic allergy is limited as, if negative, antibiotic allergy cannot be ruled out.

A positive Coombs test has been seen in certain drug reactions e.g. Cephalosporins; however has no role in the acute diagnosis of anaphylaxis.

Serum complement levels have limited value in the diagnosis of anaphylaxis. It is thought that activation levels
should be measured rather than complement fractions themselves as during an anaphylactic reaction there can be a large dilutional effect.

3. C

Allergic reactions to antibiotics comprise only a small proportion of adverse drug reactions but since they are
unexpected and can be severe, they are associated with significant morbidity and mortality. Physicians should strive to evaluate the diagnosis of possible antibiotic allergy once the child has recovered and not allow them to unnecessarily carry that label into adulthood. The vast majority of children with a label of beta lactam allergy will be found to be able to take all beta lactam antibiotics without an allergic reaction.

 A good medical history is important in the assessment and diagnosis of antibiotic reactions. An incorrect diagnosis of antibiotic allergy leads to the unnecessary use of more expensive agents at substantial cost to the health service and also contributes to the emergence of resistant pathogens.

Atopy is not a risk factor for drug allergy. Allergy to antibiotics can manifest in numerous different
ways. Any organ can be affected, but the skin is most commonly involved. The reaction in the girl described was clearly amultisystemIgEmediated anaphylaxis; however such reactions are rare. Much more common are non-IgE mediated reactions consisting mainly of skin rashes. These may occur days to weeks after the initial exposure to the drug and may be relatively mild with a maculopapular rash and no mucosal
involvement or have a more severe presentation similar to Stevens Johnson syndrome. Typically while the rash of acute IgE mediated reactions last only for a few hours, the rash of non-IgE mediated reactions may continue for many days. Skin-prick testing, intradermal testing and specific IgE
antibody tests can be used to detect allergen-specific IgE antibodies in antibiotic allergy. However, other than for Penicillin, the relevant allergenic determinants are not known for most antibiotics and non-irritating concentrations of the antibiotic are used to perform the skin tests. Additionally, while the negative predictive value of skin tests for Penicillin is high, it is less so for semi-synthetic penicillins such as Amoxicillin and other non-beta lactam antibiotics. There are no validated tests for antibiotic induced non-IgE mediated, delayed skin reactions.

Drug provocation testing, also called a “graded challenge” is the administration of increasing antibiotic doses
up to the usual daily dose and may be used to confirm or rule out antibiotic allergy. These are usually performed when either there is low likelihood that the reaction was caused by the drug or when the reaction appears to be only a mild maculopapular exanthem caused either by non-IgE mechanisms or due to an underlying viral infection. They are contraindicated when there is a clear diagnosis of anaphylaxis or desquamative skin reactions. The initial dose used is often 1/10th of the full therapeutic dose and this is doubled every 30 min. There is always a risk of a significant reaction during such challenges and drug
provocation must only be attempted where equipment for cardiopulmonary resuscitation and trained staff are available and under the supervision of an allergy specialist.

For IgE mediated antibiotic reactions, desensitization can be utilized if the antibiotic in question is a necessary
part of patient treatment (e.g. in cystic fibrosis). This is a technique by which children who are highly allergic to a drug are converted to a state where they can tolerate the medication. Desensitization involves the administration (intravenous or oral) of increasing doses of the antibiotic over a period of hours until a therapeutic target dose is reached. The initial dose may be as small as 1/10,000 of the therapeutic dose and this is doubled every 15 min. If mild reactions occur, they are treated symptomatically e.g. antihistamines for urticaria. If the patient experiences a severe reaction, desensitization is discontinued and an alternative antibiotic must be sought.

----

Q 4

A 7-year-old girl presents with hives, which developed after a bee sting. She has no otherNsymptoms. The hives resolve with diphenhydramine. Which of the following is the most appropriate management?

(A) Write a prescription for diphenhydramine in case she is bitten again.
(B) Provide an Epi-pen Jr (epinephrine autoinjector) to be carried at all times, as well as a prescription for
     diphenhydramine.
(C) Admit to the hospital for observation for delayed hypersensitivity symptoms.
(D) Refer her to an allergist for desensitization.
(E) Order a skin-prick test with hymenoptera venom.


Answer :


(B)

The insect order Hymenoptera includes ants, bees, and wasps. Their venom usually only causes a local reaction. About 1–4% of the population is sensitized to the venom and at risk for immediate hypersensitivity reactions.

Reactions may include urticaria, angioedema, wheezing, or hypotension. Severe reactions should be treated with IV fluids, oxygen, and epinephrine. Although the child responded well to diphenhydramine, because there was a systemic reaction, it is advisable to carry an Epi-pen Jr at all times. Only children with   life-threatening systemic reactions need to be referred for desensitization. Testing IgE or skinprick test with Hymenoptera venom is not predictive of future systemic reactions.


الخميس، 9 مايو 2013

MCQs in Development.

Q 1 :

A child perform the following functions : He runs stiffly; sits on small chair; walks up stairs with one hand held; explores drawers and waste baskets. He speaks ten words and kisses parents with pucker

The age of this child is :

A- 1 year.
B- 2 years
C- 15 months.
D- 18 months.
E- 24 year.


Answer

D


Q 2:

 Which of the following statements about normal puberty in children is true?

A. Bone age correlates better with pubertal development than chronologic age.
B. Gonadotropin-releasing hormone (GnRH) secretion in response to negative feedback from sex steroids is
constant throughout life.
C. Growth hormone secretion is the sole determinant of the pubertal growth spurt.
D. Menarche is the first stage of puberty in girls.
E. Normal pubertal development is unrelated to nutritional status.

Answer

A

Q 3:


At a health supervision visit, the mother of a 9-month-old girl asks you if her daughter’s language
development is normal. Which of the following language milestones is most appropriate for this girl’s age?

A. Localizing of voices and sounds.
B. Reciprocal vocalizing.
C. Saying three words, including “mama” and “dada.”
D. Startling to loud sounds.
E. Understanding “bye-bye” and “no.”

Answer:

E

---------------

Q 4:


You are seeing a 13-year-old girl who experienced menarche 3 months ago. Her physical examination
shows that the areolae form a secondary mound above the contour of her breasts. Her pubic hair is curly
and coarse and covers the lower portion of her mons pubis. Which of the following is the most accurate
description of her Sexual Maturity Rating?

A. Breast: stage 2, pubic hair: stage 3.
B. Breast: stage 3, pubic hair: stage 3.
C. Breast: stage 3, pubic hair: stage 4.
D. Breast: stage 4, pubic hair: stage 4.
E. Breast: stage 4, pubic hair: stage 5.

Answers :

D

------------------


Q 5. Which of the following is a true statement regarding normal pubertal development?

A. Behavioral changes in adolescence are a direct manifestation of increases in sex hormone concentrations.
B. Bone age is an accurate determinant of height potential in boys and girls.
C. Most girls miss periods for 90 days within 1 year of menarche.
D. Pubertal gynecomastia is rare and should prompt an investigation.
E. The pubertal growth spurt in girls typically occurs within 2 to 3 months after menarche.

Answer

B

-----------------------

Question: 6

A 24-month-old child has been evaluated and found eligible for early intervention services
because of language delay. His mother is reluctant to pursue therapy because she feels that his
language will improve without intervention.
Of the following, the MOST appropriate response is to

A. agree with the mother that his speech probably will improve without therapy
B. explain that therapy at this age is parent-based training to promote appropriate development in the home setting
C. explain that therapy is critical for the child or the child will have regression in her language development
D. postpone therapy pending re-evaluation in 6 months
E. warn the mother that if she does not enroll the child in therapy, she can be reported for child neglect

Answer

B

The child described in the vignette will benefit from early intervention therapy, the goal of
which is to enhance the development of infants and toddlers who have disabilities and minimize
their potential for developmental delays. The services are designed to meet the needs of the
child and family and promote the child's development in natural environments. Therapy at this
stage may be selected by the parents, and parent-based training in the home is most
appropriate for this child. Because language delays have been identified for this boy, his parents
should be encouraged to initiate services without delay. His speech probably will improve more
slowly without therapy, but it will not regress without therapy

---

Q 7 & 8 are closely related

Q 7:

A 6-year-old  female has breast enlargement (Tanner stage II) and coarse curly pubic hair. She is not yet menstruating. She is otherwise healthy and has normal growth parameters. There are no signs of virilization and her abdominal examination reveals no masses. Examination of the vaginal area shows signs of estrogenization. Which of the following is the most likely preliminary working diagnosis?

(A) precocious puberty
(B) premature thelarche
(C) premature pubarche
(D) normal development
(E) precocious menarche


Q 8:

On laboratory evaluation, you find elevated levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), and pubertal levels of estradiol. The bone age is advanced beyond the height and chronologic age. The most likely cause is which of the following?

(A) idiopathic
(B) central nervous system (CNS) tumor
(C) ovarian tumor
(D) functional ovarian cyst
(E) congenital adrenal hyperplasia

Answers :

Q 7:


(A)

 Precocious puberty has been redefined for girls as the presence of either pubic hair or breast development before age 6 for African Americans and age 7 for Caucasians. Premature thelarche is the isolated development of breasts, with no other secondary sexual development.


Premature pubarche is the isolated development of pubic or axillary hair (sexual hair). Precocious menarche is a rare form of incomplete precocious puberty with cyclic menstruation but no other secondary sexual
characteristics.

Q 8:

(A)

The laboratory and radiologic studies indicate a form of central precocious puberty. It is most likely to be idiopathic; however, imaging of the head as well as a careful neurologic and visual examination is recommended to exclude a CNS lesion (tumor, trauma, hamartoma, and so forth). Estradiol secreting ovarian tumors and functional ovarian cysts may cause peripheral precocious puberty; however, the levels of FSH and LH are prepubertal. Congenital adrenal hyperplasia results in signs of virilization;
these include excessive hirsutism, deepening voice, acne, clitoromegaly, and muscle development

الثلاثاء، 7 مايو 2013

MCQs In Pediatric Nephrology - Part III

Q 1-  3:


A 4-year-old boy presented with a week’s history of diarrhoea and vomiting, followed 2 days later with pyrexia and lethargy. On presentation he was unable to tolerate any oral intake and had reduced urinary output. His parents had noticed abdominal and ankle swelling.
Blood tests showed:
Na - 129 mmol/litres
K -4 mmol/litres
Urea - 3.7 mmol/litres
Creat - 16 umol/litres
Albumin - 13 g/litres
Urine dip showed:
Protein :  +++
Blood : -

( Q 1) What is the most likely diagnosis?

A- Nephrotic syndrome
B-  Viral gastroenteritis
C-  Haemolytic uraemic syndrome
D-  Hyponatraemic dehydration
E- Urinary tract infection

( Q 2) How would you treat him?

A- Phenoxymethylpenicillin
B-  Salt and fluid restriction
C-  Oral prednisolone
D- Pneumococcal vaccination
E- All of the above


Despite 1 month’s treatment with high-dose oral steroids and fluid restriction of 750 ml/24 hours, he had continued proteinuria and oedema. He was then admitted for a 3-day course of intravenous corticosteroids, methyl-prednisolone, without resolution of the proteinuria.

( Q 3 ) The next best course of action is

A-  Human albumin solution infusion
B-  Renal biopsy
C-  Increased dose of intravenous steroids for further 1 week
D- Greater fluid restriction to 500 ml/24 hours

Answers

Q1: A

Q2 : E

Q 3: B


Nephrotic syndrome, NS, is diagnosed with the triad of oedema, proteinuria (>1 g/m2/24 hours), and hypoalbunaemia (<25 g/litres). Oedema is most easily noted in peripheries, genitals and periorbital areas. Abdominal ascites can also occur, and when present, there is a risk of spontaneous bacterial peritonitis.
Oral penicillin V, is therefore recommended as prophylaxis.

Complement and immunoglobulins are proteins and are also lost, thus reducing immunity and increasing susceptibility to infection. Booster immunizations may be required, especially pneumococcal vaccination.

NS can be classified into primary, secondary or congenital.

Primary NS, is idiopathic, and related to glomerular diseases; it can be further stratified into minimal change
(80e90%) or focal segmental glomerulosclerosis (10e20%). Secondary NS is caused by systemic illnesses
such as HenocheSchonlein purpura or systemic lupus erythematosus.

Children without evidence of systemic illness, and who appear to have isolated NS, without evidence of hypertension or macroscopic haematuria can be started empirically
on steroid treatment.

Those who are unresponsive to steroid treatment, or who exhibit atypical features, should be considered for
renal biopsy.


For those children unresponsive to steroid treatment, further treatment is available with levamisole, cyclophosphamide, cyclosporine, or mycophenylate Mofitil.


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Q4:

A 5-year-old boy presents with dark red urine, fever, and rhinorrhea. He was well until 2 days
ago, when he developed rhinorrhea and mild cough. He denies urgency, frequency, dysuria,
back pain, or musculoskeletal complaints. On physical examination, the slightly ill-appearing boy
has a temperature of 99.5°F (37.5°C), heart rate of 130 beats/min, respiratory rate of 18
breaths/min, and blood pressure of 104/58 mm Hg. He has pale conjunctivae, mild scleral
icterus, a hyperdynamic precordium, and a I/VI systolic murmur at the left upper sternal border.
There is no edema, and musculoskeletal and neurologic examination results are normal.
Urinalysis results include: red appearance, a specific gravity of 1.030, pH of 6.5, 3+ blood, and
no protein. Microscopy reveals fewer than 5 red blood cells/high-power field (HPF), fewer than 5
white blood cells/HPF, and no casts.
Of the following, the BEST initial test to obtain is

A. complete blood count with manual differential count
B. creatine phosphokinase measurement
C. renal/bladder ultrasonography
D. urine culture
E. viral culture of urine for adenovirus

Answer:

A

The differential diagnosis for causes of red urine includes hematuria, hemoglobinuria, myoglobinuria, and porphyrinuria.

Some urinary tract pathogens (eg. Serratia marcescens) also can be associated with red urine. In addition, red urine can result from ingestion of certain foods (beets, blackberries, or food dyes) and medications (deferoxamine, rifampin, and phenolphthalein).

The initial test for evaluating a child who has red urine is the urinalysis to look for the presence or absence of blood. The 3+ blood on a dipstick described for the child in the vignette narrows the differential diagnosis to hematuria, hemoglobinuria, or myoglobinuria.

The dipstick test incorporates an indicator impregnated into the paper strip that, upon contact with free
hemoglobin, myoglobin, or intact red blood cells, oxidizes the indicator to result in a blue color change. This dipstick test is exquisitely sensitive to blood to the level of 5 red blood cells/highpower field. The fewer than 5 red blood cells/high power field on microscopy described for the patient in the vignette eliminates hematuria.

The presence of tachycardia, pale conjunctivae, and a systolic murmur is suggestive of anemia, and scleral icterus supports a possible hemolytic anemia. Accordingly, a complete blood count to assess for anemia is the most appropriate next laboratory test to obtain for this boy.

The absence of musculoskeletal complaints and normal musculoskeletal and neurologic examination results make myoglobinuria (usually related to rhabdomyolyis) unlikely. If myoglobinuria was suspected, measurement of creatine phosphokinase would be useful.

Renal/bladder ultrasonography is helpful in evaluating patients who have bright red urine,with clots and red blood cells noted on urinalysis. Such findings are suggestive of a structural cause for the red urine, such as renal or bladder mass or stones.

Red urine caused by bacterial or viral infections is due to hematuria. Thus, culture of the urine for bacteria or viral culture for adenovirus is inappropriate because this boy does not have hematuria.

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Q5 - 6:


Q 5:

A 5-year-old boy has a history of bed-wetting about four to five times a week. He has recently begun to attend kindergarten. He was toilet trained (dry during the day) by age 3 but has never been consistently dry at night. He denies any dysuria or frequency. There is no history of increased thirst or frequent urination. The urinalysis is negative for blood, protein, glucose, or ketones; there are no white cells or bacteria; the specific gravity is 1.020. Which of the following is the most likely diagnosis?

(A) a urinary tract infection (UTI)
(B) primary nocturnal enuresis
(C) secondary enuresis caused by stress of the new school
(D) diabetes mellitus
(E) diabetes insipidus



Q 6:

 The parents request some treatment for thiscondition. Which of the following is the most appropriate treatment for a child of this age?

(A) bladder stretching exercises
(B) intranasal DDAVP (desmopressin acetate)
(C) imipramine
(D) conditioning therapy with a bed-wetting alarm
(E) reassurance of the parents and restriction of fluids before bedtime

Answers :

Q 5:

(B)

 Enuresis may be primary (75%) where nocturnal control was never achieved; secondary enuresis (25%) is when the child was dry at night for at least a few months.

 Nocturnal enuresis is more common in boys, and family history is positive in at least 50%. This may affect as much as 20% of children at age 5 years, and it spontaneously stops in at least 15% of affected children every year. Psychological factors are often involved in secondary enuresis.

 A careful history should be obtained to rule out such organic factors as UTI (dysuria, frequency, urgency). Children with diabetes insipidus or diabetes mellitus have polydipsia and polyuria.

Urinalysis should be considered to rule out an organic cause. In diabetes mellitus, urinalysis may reveal glycosuria and ketonuria. Aurinespecific gravity of >1.015 makes diabetes insipidus unlikely.


Q 6:

(E)

Active treatment should be avoided in children under age 6 years, as nocturnal enuresis is common. Parents should be reassured that the condition is self-limited. Fluid intake 1 hour before sleep should be restricted. Simple behavioral reinforcement, such as a star or sticker chart to record dry nights, may be helpful. Punitive or humiliating measures should be discouraged.

Bladder-stretching exercises and encouraging children to hold urine for longer periods during the day are usually not helpful. Pharmacologic therapy is not curative. DDAVP is a synthetic analog of antidiuretic hormone. It reduces urine production overnight. Hyponatremia has been reported with use of this drug. If used, it should only be for a limited time. Imipramine is a tricyclic antidepressant which was used more often
in the past. It is effective in 30–60% of children, but side effects include anxiety, insomnia, and dry mouth.

There is a poisoning risk, especially for younger children. Conditioning therapy may be considered in children older than 6 years. Success rates range from 30 to 60%. It involves the use of an alarm attached to electrodes in the underwear, which sounds when the child voids.

Consistent use of the device is often helpful; it is more effective in older, more motivated children. A common complaint is that the alarm wakes up other family members but not the affected child.

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Q 7:

An 11-month-old girl presents to your office with a fever of 39°C she has had for 2 days. She has also
vomited frequently and had decreased fluid intake. She looked tired and ill but on examination, had no
apparent source of infection. She appeared to be 5–10% dehydrated.

You decide to obtain a urine specimen for analysis and culture. Which of the following is the best method?

(A) Collect a midstream “clean catch” specimen.
(B) Collect a catheterized specimen.
(C) Place an adhesive bag to collect urine.
(D) Obtain urine from a diaper.
(E) Collect urine after she urinates in a potty chair

Q8:

Her urinalysis shows a urine specific gravity of 1.030, trace blood, and protein. Nitrite and
leukocyte esterase are both positive. Microscopic examination of unspun urine shows >100 white
blood cells (WBCs) and 0–5 red blood cells (RBCs) per high-power field, as well as many bacteria. Aurine culture is sent. Which of the following is the most appropriate management plan?

(A) Treat only if the culture is positive.
(B) Admit for intravenous (IV) hydration and IV antibiotics.
(C) Treat with intramuscular ceftriaxone and have her follow-up in the office the following day.
(D) Treat with trimethoprimsulfamethoxazole, and have her followup
in the office the following day.
(E) Prescribe amoxicillin and start oral hydration.

Q 9:

 Her urine culture is positive at 24 hours. Which of the following is the most likely organism?

(A) Klebsiella
(B) Escherichia coli
(C) Staphylococcus saprophyticus
(D) Proteus
(E) Enterococcus

Q 10:

 After the infection has been treated, which one of the following tests should be considered?

(A) no tests are needed
(B) renal ultrasound
(C) voiding cystourethrogram (VCUG)
(D) renal ultrasound and a VCUG
(E) radionucleotide renal scan


All

B

Urine for urinalysis and culture must be properly obtained. Catheterization is the most reliable method of the choices offered. Suprapubic tap is considered the “gold-standard” but is not always technically feasible, especially in an outpatient office setting.

Amidstream, clean catch specimen would be acceptable in an older, toilet-trained child. “Bagged” specimens are not recommended because of possible skin or fecal contamination of the specimen. Similarly,
obtaining a sample from a diaper or potty would be unacceptable. Urinalysis includes dipstick
method and microscopic examination.

Leukocyte esterase (an enzyme in WBC) and nitrites suggest probable infection. Microscopic analysis of unspun urine for WBC (>10/highpower field) or bacteria is also predictive of infection. RBCs are often present in a UTI.

The patient is vomiting and dehydrated;this may indicate possible pyelonephritis. The most appropriate course would be IV hydration and empiric treatment with antibiotics (ceftriaxone) while awaiting cultures. Children with pyelonephritis are at increased risk of renal scarring, especially younger children, and should be
treated early. E. coli is the most common organism cultured; others include Proteus, Klebsiella, S. saprophyticus, and Enterococcus. The occurrence of a UTI in a girl under age 3–5 years and in a
boy of any age may be a marker for an underlying congenital anatomic abnormality, in particular,
vesicourethral reflux. Radiologic investigation with renal ultrasound and VCUG is recommended.

الأحد، 5 مايو 2013

MCQs In Genetic Disorders

Q 1- 2:

A 5-week-old baby girl was seen in clinic, with concerns about short limbs. Born at term by spontaneous vaginal planned home delivery, following an uneventful pregnancy with normal antenatal scans. Bottle feeding well and thriving. One of six children with three half siblings and three full siblings. Family history includes a paternal aunt with Apert syndrome. On examination, she is alert and responsive with social smiles. She has a relatively large head and short limbs, close to the body with resultant extra skin creases. Muscle
tone is slightly reduced. Facial features showed downward slant of the eyes and flat nasal bridge. Left-sided preauricular tag. Short and broad hands. Normal spine and joints. Systemic examination is otherwise normal.

( Q 1) What is the most likely diagnosis given the examination findings ?

A- Familial short stature
B-  Apert syndrome
C-  Down’s syndrome
D-  Osteogenesis imperfecta
E-  Achondroplasia

(Q 2) What is the genetic inheritance pattern?

A-  Trisomy
B-  Autosomal dominant
C-  Autosomal recessive
D-  x-linked
E-  Multivariate

Answer

1 : E

2: B

Achondroplasia is an autosomal dominant disorder, most cases arise as the result of a new mutation that can be associated with increasing paternal age. It can be suspected on antenatal ultrasound scan, with polyhydramnios or a large foetal head. Postnatally, characteristic physical findings include disproportionate head circumference to length or weight, short limbs e most markedly the proximal
limbs, short and broad hands, and a saddle-shaped nasal bridge. There is currently no treatment available.
Co-morbidities include hydrocephalus and spinal stenosis.

Adult height potential is markedly reduced and trials are ongoing regarding the use of growth hormone. Intelligence is not impaired.


Familial short stature is a diagnosis of exclusion after a period of observation. It can be predicted using parental heights; and ascertaining normal growth velocity with bone age equivalent to chronological age.

Apert syndrome is an autosomal dominant congenital acrocephalosyndactyly with anomalies of the skull, face, hands and feet. Typical hand deformities distinguish it from other acrocephalosyndactyly syndromes.

Down’s syndrome is caused by trisomy 21 and is associated with well-recognized dysmorphic features.
Osteogenesis imperfecta, OI, is mainly an autosomal dominant disorder with autosomal recessive variants.
There are eight types of OI, each with their own pattern of symptoms.




الجمعة، 3 مايو 2013

MCQs In Pediatric Neurology Part II

Question from 1 till 3 :

A 6-month-old girl presents with episodes of brief flexion of her limbs. These episodes have increased in frequency and intensity over the last 3e4 weeks. Initially she had occasional, slight head nods with blinking of eyes whilst going to sleep. She would be irritable at the end of the episodes but would settle
after some time. Her parents feel that she is otherwise well but has lost interest in playing with her toys and
is not smiling as often as she used to. She is the first child of unrelated parents with an uneventful antenatal
and perinatal period. The child has seen the GP twice, where she was diagnosed with colic.
1. What would be most useful course of action at thea bedside?

(a) Blood investigations and urine dipstix for inflammatory markers
(b) Wood’s lamp examination
(c) Lumbar puncture to rule out meningitis
(d) Review of video footage of the episodes
(e) Review of pregnancy and birth records
(f) Reassure parents

2. Which investigation is most likely to reveal the diagnosis for the episodes?

(a) Standard EEG
(b) MRI brain and spine
(c) Sleep EEG
(d) Degenerative brain disorders investigations.
(e) Chromosomal studies.

3. What is the most useful investigation to find an underlying cause for the child

(a) MRI brain
(b) Genetic investigations
(c) Metabolic investigations
(d) CT brain
(e) TORCH screen.

Answers:

1 : D


The child is having infantile spasms (IS), which are usually intermittent and may not be evident at the time of assessment. Parental videos of the events are becoming readily available with increasing use of smartphones.

Reviewing video footage of the events would be most helpful in establishing a diagnosis of clinical spasms.
The spasms usually start in a subtle fashion with slight head nods, upward eye deviation, elevation of shoulders usually in clusters. These evolve to symmetrical or asymmetric (rare) flexor, extensor, or mixed axial jerks.

The most common time for clusters to appear is at the sleepewake interfaces. The clustering or repetitive character is usually the key in considering the diagnosis.

Other clinical features, which may also be seen include change in breathing pattern, crying at the end of a cluster, laughing, facial flushing, eye deviation or smiling. Spasms are variable in frequency and intensity, can be subtle and easily missed. Unfortunately the diagnosis is often delayed for weeks or sometimes months.

Apart from clinical spasms the defining features of IS include hypsarrhythmia on EEG and developmental
regression. The developmental regression may be subtle and not appreciated at the onset. There is often relative plateauing of the behaviour and developmental skills
followed by regression. Parents often report the child to have lost their social smile and become apathetic.

Examination of skin under Wood’s lamp is a simple and useful bedside examination to look for hypopigmented macules. These occur in 90e95% of children having Tuberous sclerosis complex (TSC). TSCwould account for up to 10% of cases as an underlying cause for infantile spasms. Blood, CSF and urine examination for an infective cause are unhelpful and would only delay the diagnosis.

2. C

EEG features are essential to make a diagnosis of IS. Hypsarrhythmia is the characteristic feature of interictial
EEG in IS. Classic hypsarrhythmia is described as having a chaotic background with random, high-voltage, slow waves and spikes in all cortical areas that vary from moment to moment in duration and location.

The hypsarrhythmic pattern is most frequent during nonerapid eye movement (non-REM) sleep, followed by
waking and arousal, and it does not occur or is greatly reduced during REMsleep. It is therefore recommended that EEG evaluation should be inpatient, overnight, 24 EEG preferably with a video record. If this is unavailable, a prolonged EEG during a waking and sleep period may be sufficient. EEG evaluation hence should not only capture a full sleepewake cycle but should also capture an ictal event.

3. A

MRI brain is the most useful investigation to find an underlying cause. After completing a detailed evaluation of history, examination and analysis of MRI and EEG, diagnosis can be established in 70% of the patients.
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Questions : 4- 6

Case 2: 


An 8-year-old boy presents with a 2 week history of abnormal behaviour. He is alternately affectionate and
loving, or aggressive. He is withdrawing from his family and appears to be scared of something and low in mood. He is episodically confused both at school and at home and not sleeping well at night. There is no history of head injury, toxin ingestion, illness or travel. He has a fever of 38 C on admission.

Q 4. The most appropriate initial treatment would be:

(a) Intravenous Ceftriaxone and Acyclovir
(b) Intravenous Ceftriaxone
(c) Intravenous Benzylpenicillin and Gentamicin
(d) Intravenous Dexamethasone and Ceftriaxone
(e) Intravenous Ceftriaxone and Phenytoin

A diagnosis of acute confusional state, possibly encephalitis, is made and he undergoes baseline blood tests including an FBC, renal, liver and thyroid function tests, glucose, blood gas, ammonia all of which were normal. He is commenced on antibiotics and Acyclovir. Urine toxicology is negative. On day two of admission he develops staring episodes followed by right sided focal seizures, and choreiform movements of his left arm and face. He is very agitated and not vocalizing as much as the previous day. CT head is normal,
followed by a cerebrospinal fluid (CSF) sampling for herpes simplex virus (HSV) PCR, microscopy, protein and glucose. On day three of admission he becomes mute and develops autonomic instability with hypertension and hyperpyrexia. An EEG is reported as ‘mildly encephalopathic with no seizure activity’. He continues to have focal seizures, hemichorea and a persisting encephalopathy with mutism and autonomic
dysfunction. He becomes catatonic. An MRI head is normal.

Q 5. With regards to acyclovir treatment in encephalitis, when would it be considered safe to stop the acyclovir?

(a) if CSF taken on day 2 of illness is negative for HSV 1 and 2 PCR
(b) if CSF taken greater than 72 h following the onset of illness and before treatment with antivirals is
      negative for HSV 1 and 2 and the MRI shows bilateral oedema in the temporal lobes
(c) if there is documented history of chicken pox exposure but the blood PCR is negative
(d) if CSF taken greater than 72 h following the onset of illness and before treatment with antivirals is
     negative and there are no focal signs on MR or EEG
(e) if intravenous (iv) access becomes difficult in order to preserve iv line for antibiotics or seizure
     management

Q 6. What is themost likely cause of encephalitis in this patient?

(a) Anti N Methyl D Aspartate Receptor antibodies
(b) Anti Basal Ganglia Antibodies
(c) Voltage Gated Potassium Channel antibodies
(d) Herpes simplex virus infection
(e) Post streptococcal infection

Answers :


4 : (a) ceftriaxone and acyclovir

This patient has symptoms that are suggestive of encephalitis. If a child presents with a febrile encephalopathy they should be treated with broad spectrum antibiotics and antivirals until infective causes can be ruled out or a non infective cause established. The management of such children should be in concordance with the RCPCH guideline on reduced consciousness. In a viral encephalitis, the CSF usually reveals a mononuclear cell pleocytosis with slightly high protein and normal glucose.

Encephalitis is inflammation of brain parenychyma, there are many aetiologies and differential diagnoses. Broadly speaking, encephalitis may be divided into those with infective aetiology and those with inflammatory aetiology. However, a cause is not identified for many cases.

The typical presentation of encephalitis is with a brief ‘flulike prodrome, headaches, nausea, vomiting, altered
consciousness, meningism, seizures, focal neurological signs. Presentation may be more subtle without fever and with behavioural changes or speech and language disturbances. MRI brain excludes many non-infectious causes such as stroke, abscess and space occupying lesions. However MRI is not often acutely available or may be technically difficult requiring anaesthesia so CT head is often performed first. This may be normal but there may be abnormalities in the frontotemporal region with loss of the gyral pattern in herpes simplex encephalitis (HSE). EEG is often non-specific with diffuse high amplitude slow waves of encephalopathy, typically lateralizing to the temporal lobe with slow wave complexes in HSE.

5 : (d)

HSV is the most common known cause of viral encephalitis. It can affect all age groups and occurs throughout the year without a seasonal predominance. Symptoms may include headache, language and behaviour abnormalities, memory impairment and seizures which are usually focal. The decision to stop acyclovir in this setting can be very difficult. HSV PCR is the gold standard for diagnosis of HSV type 1 and 2 but PCR early in the illness may be negative therefore samples taken on day 1 or 2 may not be reliable. If there is strong clinical suspicion that HSV is the cause the lumbar puncture should be repeated several days into the illness. CSF PCR remains positive for HSV DNA in the majority of patients even
after one week of antiviral therapy.

Early recognition and treatment lead to better outcome. Without treatment mortality is high, and delayed treatment following altered conscious level is unlikely to have a good clinical outcome. Chronic seizures, cognitive and memory impairment and motor deficits are common post HSE.



6 : (a) Anti N Methyl D Aspartate (NMDA) Receptor antibodies

There is an emerging group of encephalopathies caused by autoantibodies. These are becoming increasingly recognized in clinical settings. This boy has typical features of Anti NMDAR antibody encephalitis. This is a recently described autoimmune encephalitis with antibodies to the NR1 or NR2 subunit of the NMDA receptor. It is most commonly seen as a paraneoplastic phenomenon particularly in Japanese women with ovarian teratoma.

 It is becoming increasingly diagnosed in men and children in whom there is a low risk of tumour occurrence. A chest X-ray looking for mediastinal widening and testicular examination or abdominal ultrasound scan in females should be performed to help rule out tumours.

Initially there are prominent psychiatric features such as emotional disturbance which may sometimes be preceded by mild viral illness. Patients then typically become less responsive or unresponsive with altered conscious level.

There is then a hyperkinetic phase with seizures, dyskinesias and choreiform movements usually of face and
limbs. Autonomic dysfunction follows with hypertension, tachycardia and hyperpyrexia. Neuroimaging and CSF examination are usually normal or have non-specific findings. EEG may show diffuse slowing. Diagnosis is with confirmation of NMDA Receptor antibodies on blood and/or CSF following clinical suspicion.

Treatment is immunomodulation with immunoglobulins and/or intravenous steroids. If these therapies are unsuccessful then plasma exchange may be considered. If a tumour is present then this should be surgically removed. Prognosis is generally good although recovery may take up to


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Q 7-11


A 5-year-old girl is referred to the emergency department by her GP. She has recently had a viral upper respiratory tract infection and presented to her GP that day as her mother was concerned that her mouth appeared to droop on the right side and her smile was asymmetrical. On further history-taking, you discover that the symptoms were only noted today and are not causing her any problems. She has previously been fit and well. She has never had chicken pox and is fully immunised. She is afebrile with normal observations. On examining her face, you see that when she smiles her mouth droops on the right, she is unable to squeeze her right eye shut, and she is also unable to raise her right eyebrow. Further examination of the remaining cranial nerves is normal.

7. What is the diagnosis?

(a) Left lower motor neurone lesion of the facial nerve
(b) Left-sided Bell’s palsy
(c) Left upper motor neurone lesion of the facial nerve
(d) Right lower motor neurone lesion of the facial nerve
(e) Right upper motor neurone lesion of the facial nerve

8. The facial nerve is responsible for which of the following?

(a) Hearing
(b) Lateral eye gaze
(c) Innervation to the muscles of mastication
(d) Parasympathetic supply to the lacrimal gland
(e) Taste sensation to the posterior one-third of the tongue

9. When examining a child with a facial nerve palsy, it is important to think about the course of the facial nerve as this directs clinical examination. Which one of the following structures does the facial nerve not pass
through?

(a) External auditory canal
(b) Internal auditory canal
(c) Parotid gland
(d) Stylomastoid forame


10. What is the name given to a recurrent unilateral or bilateral facial nerve palsy associated with chronic facial oedema?

(a) Bell’s palsy
(b) Guillain–Barre´ syndrome
(c) Melkersson syndrome
(d) Moebius syndrome
(e) Ramsay–Hunt syndrome

11. In a child with Bell’s palsy, what is the most important treatment?

(a) Artificial tears
(b) Gentamicin ear drops
(c) Ibuprofen
(d) Oral aciclovir
(e) Prednisolone

Answers :



7. (d) Right lower motor neurone lesion of the facial nerve An upper motor neurone lesion will affect the contralateral side; as the lesion occurs above the level of decussation of the tracts, and only involves the lower face; this is due to the fact that the forehead receives bilateral innervation.

A lower motor neurone lesion, i.e. one involving the facial nerve nucleus in the brainstem or anywhere along the facial nerve itself, will cause symptoms on the same side of the face and involve the forehead. A Bell’s palsy is an isolated facial nerve lower motor neurone lesion.

8. (d) Parasympathetic supply to the lacrimal gland The facial nerve (VIIth cranial nerve) is composed of a
motor, a sensory and a parasympathetic division. The motor division supplies all the muscles of facial expression. Asymmetry of the face therefore indicates a unilateral lesion, and this may present as loss of the nasolabial fold, drooping of the mouth and drooling. On further examination, a loss of forehead wrinkling and an inability to raise the eyebrow and close the eye tight may be seen.


The sensory division supplies taste to the anterior two thirds of the tongue. The parasympathetic division supplies the lacrimal gland. The glossopharyngeal nerve supplies taste fibres to the
posterior third of the tongue.

Lateral eye gaze is brought about by the lateral rectus muscle, which is supplied by the abducens nerve.
Branches of the mandibular portion of the trigeminal nerve supply the muscles of mastication.

Hearing is supplied by the vestibulocochlear nerve. A branch of the facial nerve supplies the stapedius muscle
in the tympanic cavity. The stapedius responds to high-intensity sounds and acts by damping down vibrations
before they reach the internal ear, but is not responsible for hearing.

9. (a) External auditory canal

The facial nerve arises near the pons. On emerging from the brain, the facial nerve enters the internal acoustic
meatus. It then passes from the lateral end and enters the facial canal before descending to the stylomastoid foramen. Emerging from here, it runs forward in the parotid gland, crosses the styloid process and divides behind the neck of the mandible into branches that further distribute to the facial muscles.

10. (c) Melkersson syndrome

Ramsay–Hunt syndrome is herpes zoster infection of the geniculate ganglion of the facial nerve. It is usually
unilateral. Examination may reveal vesicles on the tympanic membrane. It should be treated with aciclovir.

Moebius syndrome is a congenital condition characterised by a bilateral asymmetrical lower motor neurone facial nerve palsy associated with VIth nerve palsies. It is thought to be caused by underdevelopment of the cranial nerve nuclei.

Guillain–Barre´ syndrome is characterised by an ascending symmetrical flaccid paralysis. It generally occurs after a viral illness.

Bell’s palsy is an isolated facial nerve palsy of unknown pathology.

Melkersson syndrome is a rare disorder involving recurring facial paralysis, swelling of the face and lips, and the development of folds and furrows in the tongue. There may be a genetic predisposition.

11. (a) Artificial tears

More evidence is needed before antiviral medication can be recommended as being effective in aiding recovery from Bell’s palsy.

Artificial tears are important to prevent corneal ulceration. In cases in which the eye will not close at night, a lubricant gel or patch should be worn.

Gentamicin ear drops are not indicated.

Ibuprofen could be used for its anti-inflammatory properties, but there is no evidence to support its routine use.


The prognosis for recovery in children is good . Most children do not need drug therapy. 

A number of drugs have been used, particularly steroids. Surgical decompression has been recommended
in some patients when progressive paralysis and thus nerve degeneration occur.

 Prednisone is the most widely used drug; it is given in high dosage for 1 week, followed by slow withdrawal of the drug in the second week.

It should be started within 1 week of disease onset. The degree to which steroid therapy can alter the natural history of Bell’s palsy is unknown, although it appears to be more helpful in
completely paralyzed than paretic individuals .

 Most children recover completely without treatment. Recovery usually begins within 2–4 weeks, reaching its maximum within 6–12 months.