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:
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
-----
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.
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
-----
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.
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