Neurology

Question 1

What is Duchenne Muscular dystrophy?

Answer 1

• X-linked recessive trait leading to a neuromuscular disease
• Results from congenital absence of dystrophin

Question 2

What are the typical manifestations of Duchenne Muscular dystrophy?

Answer 2

• Proximal muscle weakness particularly affecting the hip girdle
• calf psuedo hypertrophy due to infiltration with fat and proliferation of collagen
• Gower’s sign: unable to stand from floor without using hands

Question 3

What are the systemic manifestations with Duchenne muscular dystrophy?

Answer 3

• Cardiomyopathy (typically dilated), tachycardia, arrhythmias
• Pulmonary failure with respiratory insufficiency
• GI delayed gastric motility
• Mild intellectual disability
• Usually wheelchair bound by age 12 years and get contractures and scoliosis

Question 4

What is the treatment for Duchenne Muscular Dystrophy?

Answer 4

Steroids initiated during gross motor function plateauing to slow down progression

Question 5

What are infantile spasms and what is their epidemiology?

Answer 5

Peak incidence is between 4-6 months and it is characterized by frequent clusters of flexor, extensor or mixed spasms. EEG pattern shows hypsarrhythmia

Question 6

What is the treatment of Infantile spasms?

Answer 6

ACTH or Vigabitran (retinal toxicity and effects on vision biggest side effect). In tuberous sclerosis want to use Vigabitran

Question 7

What is West Syndrome?

Answer 7

Triad of infantile spasms, hypsarrhythmia and arrest of psychomotor development (developmental delay)

Question 8

What is the prognosis of infantile spasms?

Answer 8

• 25% spontaneous resolve (spasms and hypsarrhythmia) by 1 year
• 50% by 2 years
• Almost 100% by 5 years
• 50-90% will develop other seizures
  NF1, down syndrome, preterm infants with PVL, etc associated with good outcome

Question 9

What are febrile seizures?

Answer 9

Occur in children 6 months to 6 years during a fever. Potential triggers include fever raising core temperature and making neurons more excitable, hyperventilation during fever decreases CO2 and lowers blood pH making neurons more excitable, cytokines interleukin-1B released by WBC enhances NMDA receptors triggering receptors and causing seizures

Question 10

What is a simple and complex febrile seizure?

Answer 10

Simple febrile seizures occurs in a developmentally normal child, lasts <15 min, is generalized and occurs once in 24 hours. Complex is focal, >15mins, reoccurs in 24 hours and/or occurs in developmentally delayed child

Question 11

What are breath holding spells associated with?

Answer 11

Iron deficiency anemia

Question 12

What do you see on EEG in childhood absence epilepsy?

Answer 12

3 Hz spike and wave

Question 13

What is the best treatment for childhood absence epilepsy?

Answer 13

Ethosuxamide and Valproic acid

Question 14

What is benign rolandic epilepsy?

Answer 14

nocturnal focal seizures of the hemi-face lasting 1-2 minutes with no loss of consciousness. May progress to GTC. Peak onset 8-9 years.

Question 15

What do you see on EEG in benign rolandic epilepsy?

Answer 15

EEG shows centro-temporal spikes

Question 16

What is juvenile myoclonic epilepsy?

Answer 16

Onset in late childhood/early adolescence. Usually present with jerking (myoclonus) in the morning and later can have GTC and absence seizures.

Question 17

What is the best treatment for juvenile myoclonic epilepsy?

Answer 17

Valproic acid or Lamotrigene

Question 18

What are the side effects of valproic acid?

Answer 18

Weight gain, PCOS, hair thinning, hepatitis, pancreatitis, thrombocytopenia, tremor, effects on bone health

Question 19

What is the diagnostic criteria for migraines?

Answer 19

At least 5 or more attacks that are moderate to severe headaches, unilateral, pulsating/throbbing quality, aggrevated by physical activity and associated with N/V and/or photosensitivity/phonophobia

Question 20

What are the features of NF -1?

Answer 20

CROP LAND
C - 6 or more cafe au lait macules
R - Relative with NF
O - Optic nerve glioma
P - Pseudoarthosis 

L - Lisch nodules
A - Axillary/inguinal freckling
N - neurofibromas (>1 typical or 1 plexiform)
D - Dysplasia of the sphenoid

Question 21

What are the features of tuberous sclerosis?

Answer 21

• Major Criteria mnemonic - “a la grass hut”
  
  • A - Adenoma sebaceum
  • L - lymphangiomyomatosis
  • A - Ash leaf spots —> 3 hypopigmented macules
  • G - giant cell subependymal astrocytomas
  • R - rhabdomyoma in heart
  • A - angiomyolipoma of the kidney
  • S - shagreen patch
  • S - subependymal nodules
  • H - hamartomas of the retina
  • U - ungual fibromas
  • T - tubers