PEDIATRIC NEUROLOGY

1. PEDIATRIC NEUROLOGY Harvey Bennett, M.D. GORYEB CHILDREN’S HOSPITAL Anita L. Belman, M.D. SUNY STONY BROOK MEDICAL CENTER ANSWERS ARE IN BOLD &/or underlined

2. Mrs. Smith brings her 5 yr old son Billy to see you because on two separate occasions (2 mo interval) Billy had a severe pounding headache associated with photophobia & vomiting. The headache was finally relieved by sleep. All of the following are appropriate questions to ask EXCEPT 1) Are there any family members with a hx of intermittent headache ? 2) Were there any particular foods that seem to act as triggers ? 3) Were there any visual symptoms ? 4) Were there any recent psychic stressors ? 5) Was there sensitivity to loud noises at the time of the headache ?

3. (continued) Mrs. Smith brings her 5 y o son Billy to see you because on two separate occasions (2 mo interval) Billy had a severe pounding headache associated with photophobia & vomiting. Headache was relieved by sleep. The best work-up for this patient includes: 1) Lumbar Puncture 2) Computed Tomography 3) Electrolytes and CBC 4) MRI scans 5) None of the above The preferred treatment for the above patient is: 1)Depakote 2)Topamax 3) Imitrex 4) Ibuprophen 5) None of the above

4. Mrs. Stone brings her 10 mo old child in for a well baby check up. She tells you on two separate occasions Jonnie had started to cry (because of frustration or discomfort) and “passed out”. Although she was worried the 1st time, her neighbor reassured her not to worry. Now that it has happened a 2nd time she is concerned and asks you for advice on this condition. The baby’s examination is normal. You should: 1) Get Neurology Consult 2) Get an EEG 3) Get an MRI scan 4) Electrolytes and Liver Function Tests 5) None of the above All of the following are considered reasonable treatment EXCEPT: 1) Reassurance 2) Leave child in lateral recumbent position 3) Ferrous Sulfate 4) Phenobarbital 5) Altering discipline for child’s frustration or anger

5. Which of the following is a FALSE statement about Neurofibromatosis type I • It is an autosomal dominant disorder • At least three café au lait spots are required for diagnosis • It can be a multi-system disorder with skin, bone, visceral & nervous system involvement • Lisch nodules are pigmented hamartomatous lesions of the iris that are not present at birth but become more frequent after puberty

6. All of the statements below about Tuberous Sclerosis are true EXCEPT: • A very common cause of Infantile Spasms • Autosomal dominant transmission • Associated with adenoma sebaceum and hypopigmented lesions • The presence of seizures early in life is not a predictor of Mental Retardation • The earliest seen lesions are usually hypo- pigmented macules (ash leaf spots) which can be seen in the newborn period

7. In Sturge Weber Syndrome (Encephalofacial angiomatosis) all of the following are true EXCEPT: • The facial lesion is usually unilateral • The underlying cortex is often affected from a leptomeningeal angioma • Seizures & hemiparesis are common manifestations • Glaucoma is often a concomitant problem • The CNS findings are always present at birth

8. Mrs. Williams brings her two sons, Evan, age 8y, & Robert, age 5y, for their first visit to your office. Mrs. Williams states, Evan has been to different pediatricians in the past. He has also seen numerous specialists over the years because of his “problems” ( habits ). An Ophthalmologist because of eye blinking. An ENT specialist because of throat clearing. An Allergist because of nasal sniffing. An Orthopedist because of neck stretching. Now they are seeing a behavioral psychologist to deal with unusual behaviors such as lining things up, evening things out etc.Robert, just a few months ago, had some eye blinking but it totally resolved in two months.Bydefinition Evan has:1) Tourette Syndrome2) Transient tics of Childhood 3) Chronic Motor Tic Disorder 4) Sydenham’s Chorea 5) None of the above

9. By definition Evan has: 1) Tourette’s Syndrome 2) Transient tics disorder of Childhood 3) Chronic Motor Tic Disorder 4) Sydenham’s Chorea 5) None of the above By definition Robert has: 1) Tourette Syndrome 2) Transient Tics of Childhood 3) Chronic Motor Tic Disorder 4) Sydenham’s Chorea 5) None of the above The two most common associated behavioral S & S of Tourette syndrome are: 1) ADD and OCD 2) OCD and Rage attacks 3) ADD and sleep disturbances 4) ADD and Learning disabilities

10. Joey is seen in your office because of a 2 day hx of difficulty walking. A few days prior to the onset of gait problems he had some vague muscle pains. About 2-3 weeks before he had a URI. On your examination you find he has a wide-based gait and areflexia. He no longer has muscle pain. The best diagnostic procedure would be: 1) CSF examination 2) Electromyography and nerve conduction times 3) MRI scan of Brain 4) CT or MRI of Spine The most likely diagnosis is: 1) Acute inflammatory Myositis 2)Guillan Barre Syndrome 3) Cord compression syndrome 4) Acute Cerebellar Ataxia

11. Mrs. Williams brings her 5 y o daughter, Dawn, to your office because for the past day Dawn has had problems walking. At first she seemed clumsy and had difficulty with balance, but by this morning she was unable to stand. Mrs. Williams also says Dawn is having problems reaching for objects. Dawn has been healthy except for a recent URI. The diagnostic procedure that needs to be done: 1) MRI of the brain 2) CSF examination 3) Drug toxicology 4) All of the above The most likely diagnosis is: 1) Drug intoxication 2) Acute cerebellar ataxia 3) A posterior Fossa mass 4) Complicated Migraine

12. A 5 year old boy uses this maneuver to stand Where is his weakness ? What is maneuver called ? What is his diagnosis ?

13. The following statements are true about Duchenne’s muscular dystrophy (DMD) and Becker’s Muscular Dystrophy (BMD) EXCEPT: 1) Both are X linked 2) Both have defects in Dystrophin 3) Both have early age of onset 4) Both respond to Steroids The best way to make a diagnosis in a young male with myopathic symptoms and a myopathic examination is: 1) Muscle Biopsy 2) MRI of Muscle 3) Mutation Analysis 4) CPK

14. A 12-month-old previously healthy infant develops fever to 39.5ºC (103.1º1F) and suffers a 2-minute generalized tonic-clonic seizure. Physical examination reveals an alert child who has no abnormal neurological findings. The likelihood that this child will develop epilepsy is CLOSEST to 1) 1% 2)10% 3) 25% 4) 33% 5) 50%

15. A 13-month-old girl has had several brief febrile seizures. Although the parents would like their child to receive prophylactic treatment, they do not want you to prescribe phenobarbital or valproic acid. Among the following, the BEST alternative home treatment is • An antibiotic, given orally once daily for prophylaxis • Diazepam, given every 8 to 12 hours during fever • Midazolam, given intramuscularly during fever • Phenytoin, given orally twice daily for prophylaxis • Synergistic use of aspirin, acetaminophen, and ibuprofen, given orally during fever

16. A 25 month old developmentally delayed girl has a prolonged generalized tonic-clonic seizure lasting >20 minutes. Her temperature is 39ºC (102.2ºF); there is no evidence of meningismus. Her siblings are also sick (fever and URI). Her brother and maternal aunt have epilepsy. The risk that this child will develop epilepsy is CLOSEST to • 2 to 4%, twice the usual risk • 9 to 15%, because she has three risk factors • 30%, because she experience a prolonged seizure • 50%, because she has Down syndrome • 90%, because she sustained brain damage during the prolonged seizure

17. A 1 year old boy had a generalized tonic -clonic seizure that lasted 5 minutes. History includes non-bloody diarrhea and upper respiratory tract symptoms for several days. Findings on physical examination are normal except for a temperature of 39.6ºC (103.3ºF) and nasal congestion. Of the following, the MOST likely cause of this boy’s seizure is • Bacterial meningitis • Fever • Hyponatremia • Idiopathic epilepsy • Shigellosis

18. A 7 month old boy has clinical & electroencephalographic evidence of infantile spasms. Extensive investigation uncovers no cause. The condition is regarded as idiopathic. Of the following, the BEST advice to the parents is: • A treatable cause will be found eventually • Since no etiology was found, immunization is the most likely cause • The prognosis is more favorable in idiopathic cases than in those caused by an underlying disorder • Treatment with Phenobarbital is indicated when the cause is unknown • Tuberous sclerosis is likely to become evident in the future

19. According to her teacher, an 8 year old girl “spaces out” at school. Lately, the parents have seen similar spells at the dinner table. At times they have also noted associated eye blinking or lip smacking. Of the following, the finding that would be MOST suggestive of absence (petit mal) rather than partial complex seizures is • Aura prior to spells • Incontinence during spells • Isolated spikes on electroencephalography • Prompt recovery after spells • Spells that last 15 to 30 seconds

20. 1. Dawn’s EEG shows a 3 per second spike and wave pattern 2. The most likely diagnosis is absence seizures 3. The anticonvulsant medication(s) of choice would be either phenobarbital or phenytoin since they are not expensive and have a long half-life. 4. Dawn’s prognosis for “outgrowing” this seizure disorder is excellent. All of the following statements are trueEXCEPT

21. A 3 month old boy who has diarrhea is fed only apple juice for 3 days. Because of increasing lethargy, he is brought to the hospital where he has a generalized tonic-clonic seizure lasting 10 minutes. He is treated with Lorazepam and Phenobarbital and intubated for apnea. He is noted to be well hydrated and afebrile. All other findings are normal. The serum glucose level is 80 mg/dl.Of the following, the MOST likely diagnosis is • Bacterial meningitis • Fructose intolerance • Hypocalcemia • Hyponatremia • Viral meningoencephalitis

22. In which of the following situations would discontinuation of prophylactic anticonvulsant therapy be MOST justified ? • Absence seizures in remission for 1 year • Adolescent-onset myoclonic epilepsy in remission for 3 years • Hypertensive seizures with hemiparesis in remission for 2 weeks • Major motor seizures in remission for 2 years • Partial complex seizures in remission for 6 months

23. The parents of a 4 year old girl report that several nights per week she comes into their bedroom. While standing next to their bed, she exhibits right facial jerking and difficulty swallowing and talking. A cousin has absence seizures.Of the following, the MOST likely diagnosis is • Absence seizures • Benign rolandic epilepsy • Conversion reaction • Night terrors • Panic attacks

24. 10 y o girl presents to the ER with history of loss of consciousness. The girl had been in church, singing in the choir. She remembers feeling hot and “dizzy” and was sweating. The members of the choir said she fell to the ground and was notably pale. She “came to” within a few minutes. By the time EMS arrived, she had regained consciousness but was a little confused. In the ER, she was fully oriented with a normal exam. What is the likely cause of her sudden loss of consciousness? • Seizure • Migraine • Psychogenic • Syncope • Cardiac arrhythmia

25. A 2-month-old boy has episodes of hypotonia and pallor with feedings. You suspect gastro-esophageal reflux. The parents, however, are worried that their child has epilepsy. The BEST way to rule out epilepsy would be to document • A negative family history of epilepsy • Abnormal pulse oximetry during a spell • Normal findings on EEG during a spell • Normal findings on an imaging study of the brain • Normal findings on an interictal electroencephalogram

26. A 12-year-old boy had well-controlled epilepsy until recently (generalized tonic-clonic seizures). He now has developed seizures characterized by opisthotonic posturing, jerking of one leg then the other, and writhing. Seizures are frequent, occurring several times per week. An electroencephalogram obtained 2 years ago revealed epileptiform discharges. His parents are in the process of getting divorced.The BEST explanation for this boy’s “spells” is 1. Acute psychosis 2. Adverse drug reaction 3. Complex partial seizures 4. Paroxysmal choreoathetosis 5. Pseudoseizures

27. A 7-year-old boy is evaluated in the ER for unsteady gait. 2 weeks ago, he had a flu-like illness. On examination, he is unable to abduct his eyes – has bilateral esotropia. He also appears to have a flat affect and decreased facial movements. His power is 4/5 in all extremities. His DTR’s are depressed and he walks holding on. The MOST LIKELY diagnosis is • Transverse myelitis • Myasthenia gravis • Myotonic dystrophy • Miller-Fisher syndrome • Moebius syndrome

28. An 8-year-old girl is admitted to the hospital for difficulty swallowing. She had a sore throat 2 weeks ago. On examination, she has left 6th nerve palsy, with bilateral facial weakness and absent gag reflex. There is bilateral lower extremity hyper-reflexia and upgoing (toes) plantar reflex.The MOST LIKELY diagnosis is • Myasthenia gravis • Syringomyelia • Guillain-Barre syndrome • Bell’s palsy • Brainstem glioma

29. A 6 mo old boy is seen in clinic for his routine check-up & immunization. His regular PMD is away. You are covering the clinic. Your examination shows his head circumference is >98th %and has been steadily crossing percentiles since birth. He has tachycardia and hyperdynamic circulation.- Mom reports there was concern about poor feeding and congestive heart failure in the neonatal period however his echocardiogramwas normal and he gradually improved. • The MOST LIKELY cause for your concern 1. Bilateral subdural collections 2. Soto’s syndrome 3. Congenital aqueductal stenosis 4. Vein of Galen malformation5. Familial megalencephaly

30. (continued) 6 mo old boy comes to clinic for routine check-up and immunization. Head circumference (HC) is > 98th %. Since birth his HC has been crossing percentiles. He is tachycardia and has hyperdynamic circulation. Your concern is the possibility of a Vein of Galen malformation • What physical finding will be helpful ? • 1. Sunset sign • 2. Dysmorphic features • 3. Cranial bruit • 4. Retinal hemorrhage • 5. Cherry red spot

31. A 15-year-old boy is brought to the ER by his family. They have been unable to arouse him and get him ready for school. He has a history of seizures and mental retardation. He is on anticonvulsant medication. For the past one week, he has been complaining of headache and vomiting. Which of the following is UNLIKELY to be a cause of his coma? • Increased intracranial pressure • Migraine • Post-ictal state • Toxic encephalopathy • Herpes encephalitis What test will be helpful in his immediate management? • CT scan • EEG • MRI brain • Lumbar puncture • Liver function tests

32. A 3-year-old boy is reported by the baby sitter to be staggering and confused. EMS was called. By the time the child arrives in the ER, he is unresponsive. He is noted to have 4 mm sluggishly reactive pupils. His vital signs are stable. His grandmother is a diabetic and is on oral hypoglycemic agents. His mother is on treatment of depression.Which of the following test would you request? • CT scan of the head • Lumbar puncture • EEG • EKG • CBC

33. A 7-year-old boy is evaluated in the Emergency Room for progressively worsening headache with vomiting and unsteady gait. Which of the following is NOT suggestive of increased intracranial pressure? • Papilledema • Diplopia • Paresthesias • Hemiparesis • New onset strabismus Which of the following brain tumors is NOT likely to cause early increased intracranial pressure? • Brain stem glioma • Cerebellar astrocytoma • Medulloblastoma • Ependymoma • Choroid plexus papilloma

34. A 15-year-old teenage girl presents with new onset double vision. She is obese and reports being fatigued easily. Her vital signs are stable. Her left eye does not abduct fully, pupils are equal and reactive.The MOST LIKELY cause of her double vision is • Pseudotumor cerebri • Myasthenia gravis • Migraine • Depression • Miller-Fisher syndrome What diagnostic procedure will confirm your diagnosis? • CT scan • MRI brain • Tensilon test • Lumbar puncture • EEG

35. On routine school eye exam, a 15 yr old adolescent boy is noted to have decreased vision in the left eye. His neurological exam is normal without focal deficit. His secondary sexual characteristics are delayed. Imaging study is LIKELY to show which of the following? • Astrocytoma • Ganglioglioma • Pinealoma • Glioblastoma • Craniopharyngioma The most appropriate treatment options for this patient are? • Surgery only • Surgery with chemotherapy • Surgery and radiotherapy • Chemotherapy and radiation • Observation only

36. Mrs. Jones brings Anne, age 9, to your office for a consultation. She is concerned Anne may have to repeat 4th grade. Anne had been an excellent student but this year her school performance deteriorated. In addition, Anne has become clumsy. She even has trouble tying her shoe-laces. Her older sister is now in a wheel-chair. (She developed trouble walking one year ago. Mom reports that both girls are adopted.) Mom is quite persistent in reporting that Anne is different compared to her sister. On examination, Anne has mild spasticity with diminished reflexes and difficulty with tandem gait.Which of the following is MOST LIKELY ? • Adrenoleukodystrophy • HIV encephalopathy • Neuronal ceroid lipofuscinosis • Metachromatic leukodystrophy • Krabbe disease

37. A 17-month-old boy is referred for evaluation of developmental delay. His birth and neonatal history are normal. Presently he can sit with support. His visual tracking is poor. He developed seizures – myoclonic jerks at 11 months of age. He is taking Keppra and Topamax. On examination, he has significant spasticity with depressed reflexes.Which of the following does he NOT have? • Mitochondrial encephalopathy • Fragile X syndrome • Ceroid lipofuscinosis • Leigh’s disease • Alpers disease

38. A 4 year-old girl with obvious “developmental delay” is seen in the office for evaluation of seizures. Birth history was normal as was early development. She was walking at 15 months, but slowly her gait deteriorated. She now walks holding on or prefers to sit in the stroller. Seizures began when she was 11 months old. Since then she has been on Phenobarbital. Examination shows: microcephaly (although her head circumference at birth was normal). She does not reach for toys. Instead she keeps her hands clasped often with a wringing movement. She tends to “breathe heavy”. Which of the following is her MOST LIKELY diagnosis? 1. Cornelia de Lange syndrome 2. Hellers syndrome 3. Rett syndrome 4. Mucopolysaccharidosis 5. Alexander disease