MCQs in Pediatric asthma

Q1 :

A 12-year-old female is brought to the emergency department. She is breathing 30 times per minute,

is unable to speak in full sentences, and has a peak expiratory fl ow rate (PEFR) 50% predicted.

Th e preferred firs tline therapy for her asthma exacerbation is :

(A) Aminophylline IV.

(B)  B-agonist nebulization.

(C) Hydrocortisone IV.

(D) Magnesium sulfate IV

(E) B and D

(F) B and C

Answer

F


Patient is obviously in respiratory distress. Aggressive treatment with oxygen, systemic steroids, and shortacting bronchodilators is indicated. Ipratropium could also be added to the albuterol in the acute setting.

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Q 2:

A 12-year-old boy who has mild persistent asthma is brought to the emergency department
because of increased work of breathing of 1 day’s duration. He reports a low-grade fever and
nonproductive cough for the past 4 days, but this morning he developed difficulty breathing and
a cough that produced a small amount of yellowish sputum. His respiratory rate is 24
breaths/min, heart rate is 80 beats/min, and temperature is 99.0°F (37.3°C). He appears in no
respiratory distress, but his lung examination reveals bilateral rales and occasional wheezes. A
chest radiograph shows bilateral diffuse infiltrates with no effusions.
Of the following, the MOST likely etiologic agent causing his symptoms is

A. Haemophilus influenzae
B. Mycobacterium tuberculosis
C. Mycoplasma pneumoniae
D. Staphylococcus aureus
E. Streptococcus pneumoniae

Answer

C

Mycoplasma pneumoniae is a common cause of community-acquired pneumonia in school-age
children and adolescents, but it is rare in infants and toddlers. Other clinical manifestations of M
pneumoniae infection include upper respiratory tract infection, pharyngitis, bullous myringitis, and
bronchitis. Occasionally, systemic symptoms such as malaise and fever are present. Among
the rarer clinical presentations are hemolytic anemia, aseptic meningitis, and Stevens-Johnson
syndrome.

 M pneumoniae is responsible for many cases of pneumonia and acute chest syndrome in children who have sickle cell disease.

 Infection also may precipitate an exacerbation of asthma, as described for the boy in the vignette. A recent study showed that children of different ages may respond differently to infection with M pneumoniae.

Children younger than 5 years of age were more likely to experience coryza, vomiting and diarrhea, and
tachypnea than were older children.

Typical radiographic findings are bilateral, diffuse infiltrates, but occasionally a
lobar infiltrate or pleural effusion may be seen. The diagnosis frequently can be made clinically,
but serologic testing is available.

The complement fixation test and, more recently, immunofluorescence and enzyme immunoassay can be used to measure levels of immunoglobulin M (IgM) and IgG antibodies to M pneumoniae. High concentrations of IgM may be present for months after acute infection.

 Comparing acute and convalescent IgG titers allows for more accurate diagnosis, although this may be impractical. Serum cold hemagglutinin titers also may be positive in patients who have acute infection but have limited sensitivity and specificity.

 Direct polymerase chain reaction is both sensitive and specific for the diagnosis but is not widely available. Macrolide antibiotics generally are used for treatment, although many infections are self-limited, and a recent review found no conclusive evidence that antibiotics are effective in reducing symptoms

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Q 3:

You are evaluating a 12-year-old girl during her biannual asthma follow-up visit. She has a
history of mild persistent asthma that is well-controlled on a low-dose inhaled corticosteroid. You
review the asthma guidelines and recommend that she receive the influenza vaccine. Her
mother immediately replies, "Oh no, my daughter has a severe egg allergy and was told to never
get the influenza vaccine."
Of the following, the vaccine that is contraindicated in a patient who has a severe immunoglobulin E-mediated egg allergy is

A. human papillomavirus vaccine
B. measles-mumps-rubella
C. tetanus diphtheria
D. varicella
E. yellow fever

Pediatric Cases

Case 1:

A 4 year old girl presented with recurrent seizures since 1 year of age which are generalized tonic clonic convulsions with clenching occurring once in 2-3 months. Mother had appendicitis in first trimester of pregnancy. A milestone in form of speech is delayed. The child is a full term normal delivery with birth weight of 2.2 kg. On examination, the child has microphthalmia, microcornea, low set ears, microcephaly {head circumference = 44 cm}. There was an ejection systolic-murmur in pulmonary area. Other systems are normal.

Question :

What is the possible diagnosis?

This child has presented with recurrent seizures. In addition, the child has dysmorphic features such as microphthalmia, microcornea and microcephaly suggestive of either an intrauterine infection or genetic disorder. The commonest IU infection in this child would be congenital rubella and seizures could be due to brain calcifications, malformations. In this child, urine for rubella was positive suggestive of diagnosis of Congenital rubella. Echocardiography was normal. ECG showed sinus bradycardia. 

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Case 2


A 14 months old boy born of third degree consanguineous marriage presents with sudden inability to stand or sit since 15 days. There is no restriction of movement in upper limb. There is no convulsion, bladder or bowel complaints and no trauma. The child has fever since 3 days. His milestones and immunization history is adequate. There is no history of TB contact. On examination, the child has hypertonia in both lower limbs with decreased power and brisk reflexes in both knees. There is bilateral sustained ankle clonus and planter reflex was extensor. Cremasteric and Abdominal reflexes were absent. Upper limb reflexes were present. Pain and touch sensation appears intact. Other systemic examination is normal. 


Questions :

Mention 4 possible causes.


What is the most likely diagnosis.



Mention a useful informative test.


Answer

This child has presented with sudden onset paraplegia. One may consider possibilities such as poliomyelitis, trauma, GBS, transverse myelitis and spinal tumor which may have bled suddenly leading to intraspinal edema. Since the paralysis is symmetrical and the child has been immunized upto date, poliomyelitis seems unlikely. Trauma and vertebral facture is also unlikely as no history of trauma is available. Since the paralysis has remained static, GBS also seems unlikely as GBS is usually an ascending polyneuropathy. A sudden onset paraplegia can be a manifestation of transverse myelitis but it usually leads to a band of dermatomal involvement with band like pain at the level of the lesion and complete motor, sensory as well as bladder and bowel involvement below the upper level of involvement. In this child, bladder and bowel involvement cannot be commented upon as the child has still not achieved continence. However, pain and touch sensation are intact thus making a diagnosis of transverse myelitis less likely. Spinal tumors usually have an insidious onset of paraparesis. However, they may be totally asymptomatic and can present as sudden onset paraplegia if there is bleeding inside the tumor. Thus, one would consider a possibility of spinal tumor in this child. An MRI spine in this child was suggestive of right paravertebral soft tissue mass at the level of T1 to T5 spinal vertebrae extending into the spinal canal through T1 and T2 neural foramen with marked extradural compression of spinal cord suggestive of intraspinal tumor

MCQs In Pediatric GIT Disorders

Q1:

Which laxative should not be used to treat acute constipation because of its slow onset of action?

(A) glycerin

(B) bisacodyl suppository

(C) psyllium

(D) milk of magnesia

Answer

C


Glycerin and the bisacodyl suppository all produce stools in 30 mins to a few hours, whereas psyllium, a
bulk-forming laxative, produces stool in 24 to 72 hrs in the same manner as a normal bolus of food or fi ber.

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Q 2- 4 :



An 8-year-old girl presented with a 6-month history of fresh PR blood on the toilet paper and clearly mixed in with stools. She occasionally has pain on defecation, and intermittent, generalized sharp abdominal pain that resolves spontaneously. She denies any significant constipation. There is no vomiting, diarrhoea or weight loss. She has a normal diet and is growing well. On examination, her abdomen was soft and mildly
tender over the right side with stool palpable in her ascending colon. In the perianal region, there is a sentinel
skin tag but no evidence of a fissure. Urea, electrolytes and creatinine, liver function tests, Creactive
protein, erythrocyte sedimentation rate and full blood count were all within normal limits.




(Q2 ) What is the most likely diagnosis given this history?

A-  Constipation
B- Inflammatory bowel disease
C-  Campylobacter enterocolitis
D-  Meckel’s diverticulum

Abdominal X-ray revealed no faecal loading and a 99mTc pertechnetate scintigraphy (Meckel’s scan) showed no evidence of functional ectopic gastric tissue. An upper endoscopy and colonoscopy were done with biopsy of the intestinal mucosa. Histology showed no active inflammation, normal crypt architecture, no granulomas, no evidence of epithelial dysplasia nor evidence of malignancy. There was however raised mucosal eosinophil density with basophilic blush and positive Steiner staining.

(Q 3) This is diagnostic of

A-  Coeliac disease
B-  Helicobacter pylori infection
C-  Crohn’s disease
D-  Intestinal spirochaetosis
E-  C. enterocolitis

(Q 4) Treatment should be with

A-  Gluten exclusion diet
B-  Triple agent therapy: omeprazole, amoxicillin and metronidazole
C-  Elemental diet
D-  Metronidazole
E-  Symptomatic relief only

Answers

Q 2: A

Q 3: D

Q 4: D


PR bleeding has a number of different aetiologies. A comprehensive history and examination should be obtained to help direct the most appropriate investigations and in order to make an accurate diagnosis. Intestinal spirochaetes, IS, are difficult to diagnose because of non-specific symptoms. The causative organisms are Brachyspira aalborgi or Brachyspira pilosicoli.

Biopsy specimens obtained during endoscopy, can be suggestive of infestation when there is basophilic blush and positive Steiner staining with eosinophilic infiltration.

Definitive diagnosis is with electron microscopy that shows spirochaetes attached to epithelial cells However, if histology-staining is suggestive of IS, it may be pertinent to treat with a 7e10 day course of oral metronidazole, rather than proceeding to expensive confirmatory testing.

Inflammatory bowel disease, IBD, includes Crohn’s disease, CD, and ulcerative colitis, UC. They can present with abdominal pain, diarrhoea, bloody stools and weight loss. Weight loss is more common in CD, and blood loss in UC. CD can affect any part of the gastrointestinal tract whereas, by definition, UC will only affect the colon.

Diagnosing and differentiating IBD requires clinical assessment in correlation with biochemistry, radiology, endoscopy and histology investigations. UC is diagnosed by clinical history supported with colonoscopy findings. CD is diagnosed by history and the demonstration of focal lesions on colonoscopy with histology showing transmural inflammation and granulomas.

Constipation can be diagnosed on history and examination alone. Bleeding is often the result of an anal fissure. Abdominal X-ray can show faecal loading. Campylobacter enterocolitis can cause dysentery with
severe, crampy abdominal pain. It is transmitted mainly via infected food and its course is usually self-limiting over a few days.


Most children infected with Helicobacter pylori, are asymptomatic.


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Q 5:


A 12-year-old girl has had intermittent periumbilical abdominal pain for the past 4 years.
Sometimes the pain worsens when she drinks a glass of milk. A lactose breath hydrogen test
demonstrates a breath hydrogen of 40 ppm after 1 hour (normal, <20 ppm).
Of the following, the food that this girl is MOST likely to tolerate is

A. buttermilk
B. cheddar cheese
C. ice cream
D. skim milk
E. whole milk

Answer

B

Lactose intolerance (lactose maldigestion) is a common cause of pediatric recurrent abdominal
pain. Lactase is a digestive enzyme located on the intestinal villi that converts the disaccharide
lactose to the monosaccharides glucose and galactose. The monosaccharides can be
absorbed across the intestinal epithelial cells. In an individual who has low intestinal lactase
(lactose intolerance), the lactose cannot be broken down and passes into the lower intestine and
colon. The malabsorbed lactose can cause osmotic diarrhea or be fermented by bacteria,
resulting in pain, gas, and bloating. Lactose intolerance can either be primary (lactase activity
that gradually declines with aging) or secondary (an infection or enteropathy damages the villi,
resulting in lactose intolerance).

Lactose intolerance may be diagnosed clinically by elimination diet and rechallenge or
through lactose breath hydrogen testing. Breath testing offers the advantage of providing a more
definitive diagnosis, so milk is not withdrawn from the diet unnecessarily. In a breath hydrogen
test, an adult is given approximately 50 g of lactose (the equivalent of 4 cups of milk) as a single
dose. Patients who cannot digest and absorb this amount of lactose have the lactose fermented
to hydrogen by intestinal bacteria, which can be measured in the breath. Because intestinal
bacterial fermentation is essential for an accurate test, patients should not receive antibiotics for
at least 2 weeks prior to the test.

Many patients who have lactose intolerance diagnosed on breath test can tolerate small
amounts of lactose in their diet. Specifically, hard cheeses, such as cheddar, which often have
very little lactose (<0.5 g/serving), can be eaten by many patients who have lactose intolerance.
Other products, such as whole or skim milk, ice cream, or buttermilk, have more lactose
(approximately 10 g/serving) and are less likely to be tolerated

MCQs In Pediatric Emergencies

Q 1:

Parenteral calcium is used as an antidote for which of the following situations?

(A) Verapamil overdoses

(B) Hyperkalemia

(C) Cocaine intoxication

(D) Verapamil overdoses and hyperkalemia


Th e correct answer is :

 D

Parenteral calcium is used to reverse the cardiac effects of calcium-channel blocker overuse and hyperkalemia.

Q 2:



A 4-year-old girl is brought to the emergency department after sticking a hair pin in a household
electrical outlet. The mother reports that she heard the child scream, and when she investigated,
smoke was coming from the outlet and the child was crying, holding her right hand. There was a
black imprint on her fingers in the shape of the hair pin. She washed the fingers with soap and
water and drove the child to the emergency department for further evaluation. On physical
examination, the child is tearful but awake and alert. Her right index finger and thumb have
erythematous burn imprints with small blisters surrounded by soot. She has no other burns or
other findings of note on the remainder of her examination.
Of the following, it is MOST important to evaluate this patient for

A. arrhythmias
B. compartment syndrome
C. immunization status
D. myoglobinuria
E. skin grafting

Answer

C


The girl in the vignette has a surface thermal burn related to contact with the heated hair pin,
and the presence of soot on her finger is evidence of flash contact. She has no clinical features
or risk factors for rhabdomyolysis, myoglobinuria, compartment syndrome, or arrhythmias. The
wound is small and should not require skin grafting. Therefore, other than ascertaining her
tetanus immunization status and providing wound care, no further evaluation is indicated


Pediatric electrical injuries typically are related to contact with household, low-voltage sources such as
electric cords or wall outlets. The primary determinant of tissue damage following electrical
exposure is current strength, which is directly proportional to voltage and inversely related to
tissue resistance. Because voltage is the only variable commonly known, electrical exposures
are classified as low- (<1,000 V) and high- (>1,000 V) voltage. Standard household electricity in
the United States is 110 V; utility power lines carry in excess of 14,000 V.

The most common injury following contact with electricity is burns. Excluding lightening
injuries, electrical burns may occur from any of the following mechanisms: electrothermal
heating from direct contact with the electrical source, arc exposure in which the body becomes
part of the electrical circuit, flash contact in which the current arc strikes the skin but does not
enter the body, and flame burns that result when clothing or other objects combust in the
presence of electrical current. Oral burns due to chewing on an electrical cord
usually are electrothermal. Arc exposure can be associated with deep tissue burns and internal
organ involvement as the current flows through body; the extent of injury may be
underestimated by the appearance of the skin wounds. Flash contact is characterized by
surface burns accompanied by soot, as described for the girl in the vignette.

Although both high- and low-voltage exposures can lead to injuries in a variety of organ
systems, high-voltage exposures are responsible for most significant injuries. The most
commonly affected organ is the skin, with burns resulting as described previously. Arrhythmias,
including asystole and ventricular fibrillation, may occur, usually at the time of contact. Deep
thermal injuries to bone and muscle may occur after arc exposure and lead to compartment
syndrome or rhabdomyolysis with subsequent renal damage. Risk factors for these more
serious injuries include extensive full-thickness burns, cardiac arrest, or high-voltage exposure.
It is rare for children exposed to household current to sustain injuries other than burns.

MCQs In Pediatric Endocrinology Part II

Q 1:

You are evaluating a 13-year-old girl who complains of malaise, fatigue, and occasional

abdominal discomfort. You diagnosed hypothyroidism due to chronic lymphocytic thyroiditis

(Hashimoto thyroiditis) 6 years ago. She has normal serum immunoglobulin A concentrations. A

tissue transglutaminase antibody study was negative 1 month before this visit, and free

thyroxine and thyroid-stimulating hormone (TSH) values were normal at that time. She reports that she has been eatinAg poorly and has lost 5 lb since you saw her at the beginning of the summer.

Of the following, the MOST important laboratory studies to obtain at this time are

A. complete blood count and erythrocyte sedimentation rate

B. duodenal biopsy for cryptic celiac disease

C. measurement of cortisol and adrenocorticotropic hormone

D. measurement of free thyroxine and TSH

E. mononucleosis spot test and liver function study

Answer

C

The malaise, fatigue, weight loss, abdominal discomfort, and tanned skin reported
for the girl in the vignette are signs of Addison disease. Adrenal insufficiency causes an
elevation in serum potassium concentrations, decrease in serum sodium concentrations, and
shifts in muscle electrolyte concentrations that result in weakness, myalgias, and
gastrointestinal symptoms. Skin pigmentation is increased by high concentrations of
adrenocorticotropic hormone. The presence of both autoimmune hypothyroidism and suspected
adrenal insufficiency in this girl suggests the diagnosis of autoimmune polyglandular syndrome
type 2. The genetic defect in this disorder is not yet known, but the girl is at risk for other
endocrine autoimmunities, including ovarian failure and diabetes.

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Q 2-3


A 12-year-old girl with a past medical history of brittle asthma presents with a history of loss of weight, dizziness and palpitations over the past few weeks. Her maternal grandmother had ‘thyroid problems’. On examination she looks flushed with warm peripheries, pulse rate 110 bpm. She has a smooth goitre 5 6 cm with an audible bruit.

2. What ONE investigation would be MOST useful in establishing a diagnosis? 

a- Thyroid stimulating antibodies
b- Ultrasound scan of the neck
c- Thyroid function tests (TSH & Free T4)
d- Fine needle biopsy of the goitre
e- Antithyroid peroxisomal antibodies

3- As part of your management plan which ONE of the following would you recommend: 

a- Radioactive iodine treatment
b- Surgical removal of the thyroid gland
c- Pharmacotherapy with carbimazole
d- Beta blockade with propanolol
e- Lugol’s iodine

Answers


2. c. Thyroid function tests
3. c. Pharmacotherapy with carbimazole

Graves’ disease: Graves’ disease describes a form of thyrotoxicosis caused by the presence of thyroid stimulating antibodies resulting in excess thyroid hormone secretion.

Graves’ disease is much more common in females (between 5:1 and 10:1 F:M ratio) and is associated with a strong family history of thyroid disease.

Typically Graves’ disease presents with weight loss, heat intolerance, sweatiness, palpitations, diarrhoea, anxiety and psychosis e all signs of a hyper-metabolic state. The initial investigation is a thyroid profile to include free thyroxine (FT4) and thyroid stimulating hormone (TSH) levels.

The FT4 will typically be elevated with suppressed TSH levels confirming thyrotoxicosis.

Other routine investigations include an USS of the neck (to rule out any “hot” nodules), and TSI (thyroid stimulating immunoglobulins).

Radio-iodine scans or fine needle biopsies should only be requested in the light of unusual clinical findings such as a nodule.

Free triiodothyronine (FT3) may be useful in diagnosing rare ‘T3 toxicosis’. Antithyroid antibodies
may be strongly positive (often seen in Down syndrome), and lead to eventual spontaneous resolution of
the disease to the hypothyroid state e “Hashitoxicosis”.

First line treatment is pharmacotherapy with a thionamide drug e.g. carbimazole/methimazole or propylthiouracil (PTU). 

PTU is recommended as a second-line treatment if side effects prevent the use of carbimazole.

The two treatment options are :

 (1) ‘block and replace’ to reduce the hormone production with large doses of carbimazole until the patient is rendered ‘hypothyroid’ followed by added thyroxine tablets versus

(2) the ‘titration’ method which effectively titrates the amount of thionamide given to maintain euthyroidism.

There is currently a national trial to establish the relative benefit of these two regimens. In any case close attention to the full blood count during treatment is required, to detect agranulocytosis, and all families are
given instructions to attend urgently if unexplained fever and sore throat occurs on treatment.

Beta-blockade in the first 6 weeks reduces the symptoms of thyrotoxicosis but is contraindicated in the presence of asthma.

 Lugol’s iodine can produce rapid reduction in thyroxine levels in thyrotoxiccrisis. It is important to discuss all later definitive treatment options (radio-iodine/surgery) with the patient.

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Q : 4-6


A 5-year-old Asian boy is referred to the paediatric endocrinology. He has previously been well however 10 months earlier he was noticed to have developed pubic hair, which has been increasing steadily. He has an adult type body odour, and he has developed acne on his face. On examination you note pubic hair and penis Tanner stage 3, testicular volumes of 5 ml bilaterally. Abdominal and neurological examinations are normal.

Q6. How would you proceed with this patient? Select ONE answer only please.

a Perform a gonadotrophin-releasing hormone (GnRH) test and measure testosterone levels
b Reassure parents that this is likely to be a variant of normal as some Asian children can be quite hirsute
     and appear more virilized


c Arrange to see the family back in outpatients in 6 weeks to review the child and calculate his growth
     velocity before requesting any tests
d Perform an HCG test with androgen levels before and after stimulation
e Perform a short Synacthen test with measurement of adrenal androgens and 17 alpha hydroxyprogesterone

5. Which TWO of the radiological tests below would you perform? Select TWO answers only please.

a X-ray head
b Testicular ultrasound scan
c MRI hypothalamus and pituitary
d CT chest
e X-ray of the hand and wrist for bone age
f Ultrasound scan of the adrenal glands

6. All the following are possible causes of precocious puberty EXCEPT: Select ONE answer only please.

a McCuneeAlbright syndrome
b Anorexia nervosa
c Hypothyroidism
d Hyperthyroidism
e Neurofibromatosis type 1

Answers:


4 a. Perform a GnRH test and measure testosterone levels
5. c. MRI Head, f. Ultrasound scan (USS) of the adrenal
glands
6. b. Anorexia nervosa

Precocious puberty in males: precocious puberty refers to the onset of puberty outside of the lower limit of the normal age range. For boys this is considered as puberty at an age less than 9 years.

The first sign of progression into puberty is the enlargement of the testicles, and a volume of 4 ml heralds the onset of puberty.

It is important to consider premature adrenarche/pubarche which is considered a variation of normal but where testicular enlargement is not seen.

 Clinicians should also be aware of virilizing conditions which result in gonadotrophin-independent
precocity such as non-salt-losing congenital adrenal hyperplasia, androgen producing tumours where testicles may be smaller than normal, familial testotoxicosis and McCuneeAlbright syndrome with polyostotic fibrous
dysplasia of bone and caf e au lait patches.


Precocious puberty is classified into gonadotrophindependent precocious puberty (GDPP) sometimes called
‘true’ or central precocious puberty, and gonadotrophinindependent precocious puberty (GIPP) pseudo-precocious puberty, In GDPP puberty progresses in a concordant manner and is driven by the activation of the hypothalamic-pituitary axis, while GIPP tends to progress in a discordant manner.

GDPP in boys is rarely idiopathic and as such all boys should be investigated appropriately by a qualified clinician to rule out an underlying cause. Investigations should
include:

Blood: testosterone, FSH/LH in response to GnRH stimulation
Radiology: Bone age, MRI Head.

It is important to determine the underlying cause and treat this as appropriate. Depending on the age of presentation it may be important to stop the progression of puberty to reduce psychological distress and to allow longer to grow before epiphyseal fusion.

Treatment may be given with long-acting GnRH analogues (in combination with cyproterone acetate initially) until the family and child are psychologically prepared for puberty and a reasonable final
height likely to be achieved.

Anorexia nervosa causes delayed puberty as the low body mass index (BMI) does not allow for a normal progression of puberty.

 Patients with anorexia nervosa have multiple hormone disturbances including low levels of FSH and LH.


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Q 7, 8:


You review a 6-year-old girl in your clinic with delayed motor milestones and mild learning disability. She was born at term, weighing 3.3 kg, to a 29-year-old mother following an uncomplicated pregnancy. She reports that the child had problems with feeding for the first few years of life, and in particular
needed nasogastric tube feeds for the first 18 months of life.

This has now settled and she is feeding very well. On examination the child is overweight with a weight on the 91st centile and a height on the 9th centile. She has short stubby fingers, one caf e-au-lait birthmark on her abdomen and almond shaped eyes. You suspect the child has Pradere Willi Syndrome.

7. What is the likely underlying genetic cause of this condition? 

a Triploidy on chromosome 21
b Maternal uniparental isodisomy of chromosome 7
c Deletion of paternal copies of genes on chromosome 15
d Monosomy X
e Duplication of the long arm of the X chromosome

8. Which ONE of the following would you NOT recommend as part of the therapy for this child?

a Dietician review
b Physiotherapy
c Speech and language therapy
d Growth hormone therapy
e Cardiology review


Answers:


7. c. Deletion of paternal copies of genes on chromosome 15

8. e. Cardiology review

PradereWilli Syndrome (PWS): PWS is a rare genetic disorder involving chromosome 15. The underlying genetic cause is loss of the paternal PWS region on chromosome 15 (15q11e13) either by deletions, maternal uniparental disomy (UPD) or translocations. The incidence of PWS is
approximately 1 in 20,000.

During pregnancy mothers may report decreased foetal movement and a breech presentation. Most babies have a good birth weight, but are noted to have the following features: hypotonia, difficulty establishing respiration, poor feeding, hypogonadism. Babies with PWS are classically described as having short stubby fingers, and almond shaped eyes. Problems relating to poor feeding persist through infancy, often manifesting as poor weight gain. In early childhood delayed milestones become evident. By the age of about 3 years children with PWS usually begin to display signs of hyperphagia and exaggerated food seeking behaviour.
If unchecked this results in an excessive weight gain.

A significant number of patients go on to develop complications including obstructive sleep apnoea, poor sleep patterns, scoliosis, short stature, poor coordination, and delayed milestone with possible mild to moderate learning difficulties.

Management of PWS patients and their families involves a multi-disciplinary team involving: geneticists, endocrinologists, physiotherapists, occupational therapists, dieticians, community physicians, speech and language therapists. Endocrine management of patients with PWS focuses on preventing excessive weight gain, and optimizing body composition in childhood; and addressing
hypogonadism and infertility issues in adolescence and as
a young adult.

Growth hormone (GH) therapy is used primarily for the improvement of body composition. The increase in muscle mass improves body tone, and helps overcome the delay in developmental milestones, and this helps with weight control. Height velocity is also sometimes noted to improve, particularly in the first year of therapy. Some unexpected deaths have been reported in patients with PWS on GH. As part of the pre-treatment work-up it is advised to perform an antero-posterior (AP) spinal X-ray to assess for scoliosis
and a polysomnograph, however abnormal results would not be an absolute contraindication to treatment, though more stringent follow up may be prudent. The other genetic disorders listed above include Down
Syndrome (Trisomy 21) which can present like PWS in the neonatal period, with a floppy infant with poor feeding.

These children usually have other features characteristic of Down Syndrome, including a single palmer crease and upslanting palpebral fissures. They have a tendency to gain weight as they grow older, but not to the same degree as children with PWS.

Maternal uniparental disomy on chromosome 7 results in RusselleSilver Syndrome, which presents with a small baby with intra-uterine growth retardation. These babies usually have small triangular faces, and clinodactyly (incurving) of the 5th finger. They tend to remain small throughout their lives.

Monosomy X results in Turner Syndrome (karyotype X0), which presents phenotypically as a girl with short
stature, webbing of the neck and a wide carrying angle. Duplication of the long arm of the X chromosome will result in a phenotype quite similar to Turner Syndrome, with short stature, webbing of the neck, but in addition there are other associated features like development delay, microcephaly, and seizures.

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Q 9:

You are asked to see an 8-year-boy in whom medulloblastoma was diagnosed at age 3 years. Treatment at that time consisted of chemotherapy and craniospinal irradiation. During the past year, he grew 2 cm, although he is eating normally, and his weight is appropriate for height. Despite spinal irradiation, the upper-to-lower segment ratio is normal for his age.

Of the following, the MOST likely diagnosis is

A. acquired growth hormone deficiency
B. chemotherapy-induced renal failure
C. Cushing syndrome
D. irradiation-induced epiphyseal fusion
E. tumor recurrence

Answer:

A

Cranial irradiation has gradual deleterious effects on pituitary hormone secretion due to damage
to hypothalamic releasing factors. Growth hormone, thyroid-stimulating hormone (TSH), and the
gonadotropins tend to be affected most, with adrenocorticotropic hormone (ACTH) relatively
protected, although all neuroendocrine function can be disturbed by cranial irradiation. The boy
described in the vignette has a normal upper-to-lower segment ratio, indicating that his spine still
is growing despite radiation. This suggests that his growth attenuation is due to an acquired
endocrine deficiency of either growth hormone or thyroid hormone. Early in the deficiency
process, if this child were tested with standard stimuli to growth hormone release, he might be
able to release growth hormone, but if continuous nocturnal growth hormone sampling were
performed, diminished and disorderly spontaneous growth hormone release might be
documented. With time, secretory function to stimuli also would be lost.

Renal failure from chemotherapy would be expected to have manifested earlier and been
recognized by this time. Cushing syndrome is a possible but rare cause of growth attenuation
caused by adrenal or pituitary oversecretion of cortisol or ACTH, respectively, and is not
associated with cranial irradiation. Irradiation-induced epiphyseal fusion at the level of the spine
is common following spinal irradiation. The epiphyseal fusion of the spine results in an increased
lower segment (measured from the pubic symphysis to the heel) compared with the upper
segment because the legs continue to grow while the spine does not. This results in an
increased lower segment-to-upper segment ratio. Tumor recurrence has more obvious
manifestations than statural growth attenuation

MCQs In Hepatobiliary Diseases

Q 1:

A 13-year-old girl presents with a 4-month history of right upper quadrant abdominal pain. The

pain occurs at different times, but seems to strike primarily after meals, more frequently after

she eats fatty foods. In your office, she complains of intermittent pain to deep palpation of the

right upper quadrant. Complete blood count, alanine aminotransferase, alkaline phosphatase,

serum bilirubin, amylase, and lipase findings are normal. Abdominal ultrasonography shows no

evidence of stones or gallbladder thickening. Upper endoscopy and biopsy results are normal,

with no evidence of ulcers or gastritis.

Of the following, the MOST appropriate next step is

A. abdominal computed tomography scan

B. endoscopic retrograde cholangiopancreatography (ERCP)

C. nuclear medicine gallbladder emptying scan with fatty meal

D. psychiatric consultation to rule out depression or anxiety

E. referral to an acupuncturist for chronic pain management

Answer

C


The colicky abdominal pain in the right upper quadrant after the ingestion of fatty foods
described for the patient in the vignette is strongly suggestive of gallbladder disease. However,
results of laboratory studies and abdominal ultrasonography are within normal limits. Because of
the symptom profile, the possibility of chronic acalculous cholecystitis with gallbladder dysmotility
should be considered, and the test of choice to evaluate for this condition is a radionuclide
gallbladder emptying scan. If the patient has markedly delayed gallbladder motility, consideration
should be given to performing a cholecystectomy.

Classically, cholecystitis occurs when the gallbladder is inflamed and irritated by gallstones.
Such gallstones typically are classified as cholesterol stones and pigment (bilirubin) stones. Risk
factors for cholesterol stones include older age, female sex, pregnancy, and overweight. Risk
factors for pigment stones include parenteral nutrition and hemolysis (as seen in children who
have sickle cell disease). For patients who have stones, cholecystitis commonly presents with
pain in the right upper quadrant, epigastrium, and back. Fever, jaundice, and abnormal liver
enzyme values also may be present, especially if a gallstone is in the biliary tree
(choledocholithiasis).

MCQs In Pediatric Hypertension

Q1:

You are evaluating a 16-year-old boy whom you have known since early childhood. He is

complaining of headaches over the past 2 weeks. He has a history of asthma, which has been

well controlled, and he is an otherwise healthy member of the varsity football team at school. He

has had a significant weight gain of 30 lb (13.5 kg) since his visit to you 1 year ago. He denies

using illicit or prescription drugs. On physical examination, he appears very muscular and has a

blood pressure of 180/120 mm Hg. You repeat the measurement using a leg cuff to ensure

adequate cuff size and obtain the same result.

Of the following, the BEST management plan is

A. angiotensin-converting enzyme inhibition as an outpatient

B. beta blocker therapy as an outpatient

C. diuretic therapy as an inpatient

D. repeat blood pressure measurement in 1 to 2 weeks

E. vasodilator therapy as an inpatient

A nswer

E



The patient described in the vignette has a significantly elevated blood pressure that
involves marked and reproducible systolic and diastolic hypertension. The best management
plan is to monitor his blood pressure while the cause is ascertained and treatment begun, which
involves admission to the hospital and initial treatment with an intravenous antihypertensive
agent. The goal of such therapy is to reduce the blood pressure by 25% or less over the first 8
hours and gradually normalize it over the next 48 hours to avoid complications (eg,
cerebrovascular accident).

The choice of chronic antihypertensive therapy depends, in part, on the cause of the
hypertension, but for immediate short-term management, vasodilators (eg, calcium channel
blockers, hydralazine, nitroprusside) are useful. These agents reduce the afterload against
which the left ventricle pumps, thereby reducing its work and oxygen consumption. Alternatively,
short-acting beta blockers could be used in the acute setting. When using beta blockers,
however, the clinician must bear in mind their potential complications, including exacerbation of
underlying asthma. Of importance, pharmacologic management of severe hypertension and
hypertensive crisis should use medications that can be titrated to effect readily and have a fast
onset of action. Diuretics, particularly the thiazide class, often are used as first-line
antihypertensive agents for those who have mild or moderate hypertension that can be
controlled on an outpatient basis. These may be used in combination with other agents, including
but not limited to angiotensin-converting enzyme inhibitors or angiotensin receptor blockers, if
adequate control is not obtained with a single agent. The significant hypertension reported for the
boy in the vignette requires immediate action; repeating the blood pressure measurement in 1 to
2 weeks is not appropriate.


Q2 :


Before antihypertensive therapy begins, secondary causes of hypertension should be ruled out.
Laboratory findings that suggest an underlying cause of hypertension include:

A. a decreased serum potassium level.
B. an increased urinary catecholamine level.
C. an increased blood cortisol level.
D. All of the above.

Answer

D

All these investigations are needed.


Low serum potassium levels in a hypertensive patient suggest primary aldosteronism. Elevated urinary catecholamines suggest a pheochromocytoma; other signs and symptoms of this tumor include weight loss, episodic flushing, and sweating. Elevated serum cortisol levels suggest Cushing syndrome; the patient is also
likely to have a round (moon) face and truncal obesity.

Secondary hypertension requires treatment of the underlying cause; supplementary antihypertensive drug
therapy may also be needed.

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

Q2- 3:


A 12-year-old boy presented with a 2-year history of intermittent tachycardia. More recently he had developed headaches, hot flushes and weight loss. He denies any drug misuse. He was hypertensive with a blood pressure of 218/ 134 mmHg. Investigations showed a normal cardiac ECHO
and ECG showed sinus tachycardia of 130/minutes and ventricular ectopics.

Full blood count, Thyroid function and LFTs were normal. Urinary normetadrenaline levels were raised.
Abdominal ultrasound scan showed an abdominal mass. CT scan identified this as a 5 cm 4 cm vascular mass arising from Organ of Zuckerkandl. Meta-iodobenzylguanidine (MiBG) scan showed increased uptake in an isolated avid lesion at the bifurcation of the aorta.

(Q 2) What is the most likely diagnosis?

A- Grave’s disease
B- Phaeochromocytoma
C-  Cushing’s disease
D-Neuroblastoma

(Q 3) What is the prognosis?

A- Good outcome but requires lifelong hormone replacement
B- 5-year survival rates of <10%
C-  Potentially curable with surgical resection
D- Invariably fatal, no known cure

Answer :

2 : B
3: C


Phaeochromocytoma is a tumour of the sympathetic nervous system that presents with episodes of tachycardia/ palpitations, headaches, sweating and pallor. These are precipitated because of catecholamine-releasing properties of this tumour. Symptomatic relief can be achieved with the use of alphaand
betablockers, such as bisoprolol and phenoxybenzamine respectively. Doses should be titrated up to effect
.
Tumours are most commonly located in the adrenal glands, but as in this case, have a number of extra-renal
sites where they may be found. The Organ of Zuckerkandl is not normally visualized on scanning, and if seen, is suggestive of pathology such as neuroblastoma or phaeochromocytoma.

In this age group, phaeochromocytoma is a much more likely diagnosis. Undiagnosed, the tumour can be fatal due to the cardiovascular risk. Early diagnosis lends itself to curative treatment by surgical resection.

Approximately 4% of paediatric tumours are malignant, they can be locally invasive or metastazise to lung, bone, liver and brain. It is more common in boys than girls with a ratio of 2:1.

The differential diagnosis should include primary hypertension, thyrotoxicosis, co-arctation of the aorta and
neuroblastoma. Investigations should be performed in order to make a comprehensive diagnosis, to include blood pressure monitoring, cardiac assessment, radiological imaging with ultrasound or CT and urinary catecholamines.