Neuro 2

Question 1

Causes of ophistiotonus

Answer 1

Severe hyperextension and spasticity. head, neck and spinal column enters a complete arching position. Due to extrapyramidal effect–> spasms of axial muscles along spinal column
causes: meningitis, teatnus, tetani, kernicterus, SAH, lithum intox

Question 2

def of CP

Answer 2

nonprogressive disorder of movement and posture that result from a lesion of the developing brain (before 2 YOL), it is a chronic disorder that continues throughout life.

Question 3

top 5 causes of CP

Answer 3

periventricular leucomalacia, intrapartum asphyxia, cerebral dysgenesis, intracranial hemorrhage, vascular infarction

Question 4

Postnatal causes of CP

Answer 4

stroke, trauma, kernicterus, infection of nervous system

Question 5

prenatal factors/causes of CP

Answer 5

intrauterine infection, prematurity, placental hemorrhage, multiple gestations

Question 6

clinical features of neuromuscular disorder

Answer 6

weakness, floppiness, delayed motor milestones, abnomrla gait, fatiguability, muscle cramps.

Question 7

gowers sign: normal range

Answer 7

Normal until age 3

Question 8

Spinal muscular atrophy

Answer 8

AR mutation in SNR gene causing degeneration of ant. horn cells –> progressive weakness of wasting of skeletal muscles. 2nd most common neuromuscular disease, after duchenne. 4 ypes

Question 9

SMA type 1: werdnig- hoffmann

Answer 9

most sever form
becomes evident in early infancy (0-6 months), with generalized hypotonia and weakness, absent DTR, intercostal rescession, fasciculation of tonuge. death from resp resp failure within 12 months

Question 10

SMA type 2: dubowitz

Answer 10

can sit but never walk independently., pseduohypertrophy of gastrocnemius. 6-18 months, resp failure from 2 yrs-3 decade

Question 11

type 3 SMA

Answer 11

Kugelberg-Welander: presenting >18 months, can stand and walk alone but have trouble with complex motor skills. near normal life expectancy

Question 12

diagnosis of SMA

Answer 12

molecular markers in blood (SMN gene), EMG, muscle biposy

Question 13

poliomyelitis

Answer 13

ASYMMETRICAL,
clinical, 10 % symptomatic: 5 % minor illness: fever headache, sore throat, vomiting, 2 % CNS involvement with meningitis , 1 % paralytic polio.

Question 14

hereditary motor sensosry neuropathies

Answer 14

group of disorder typically leading to symmetrical progressive muscular wasting, which is DISTAL. eg type 1 charcot-marie-tooth disease (MC ) AD

Question 15

charcot-marie-tooth disease

Answer 15

AD
affected nerves may be hypertrophic due to demyleination followed by attemps of remyelination: ONION BULB FORMATION on biopsy.
onset: first decade, distal atrophy: legs>arms –> inverted champange bottle of legs. initial symptoms: foot drop and hammer toe. pes cavus

Question 16

Guillain-Barre syndrome

def

Answer 16

rapid onset muscle weakness as a result of damage to peripheral nervous system( autoimmune mediated demyelination of peripheral nerves). present typically 2-3 w after an URTI or campylobacter gastorenteritis.

Question 17

clinical manifestations of Guillain -BS

Answer 17

Ascending symmetrical weakness, loss of reflexes and autonomic involvement (inc BP and HR), can involve bulbar muscles leading to difficulty with eating and swallowing –> inc risk of aspiration. resp depression may require mechanical ventilation.

Question 18

diagnosis and managment of Guillan BS

Answer 18

Dx: nerve conduction veolcity are reduced, inc protein in CSF , normal WBC
managment; supportive, Ig infusion, plasma exchange. full recovery i 95 % after 2 yrs

Question 19

Duchenne muscular dystrophy
def + presentation

Answer 19

XLR–>lack of dystrophin. muscle fiber friability –> breakdown –> necrosis and regeneration.
presentation: proximal weakness, and gowers sign, waddling gate and toe walking by age 3. loss of reflexes and pseudohypertrophy. wheelchair by age 10. daath by 20s due to resp failure or HF. average age of diagnosis: 5 yrs

Question 20

Congenital Myasthenia gravis

Answer 20

12 % of newborn born to MG mothers. auto Ach-ab cross placenta. Present: ophtalmopleia, limb weakness, weak sucking/cry, resp depression (may need ventilation), lasting days to weeks. treatment: neostigmine, prednisolon, plasmapheresis.

Question 21

Duchenne muscular dystrophy

Answer 21

high CK-MM and lactase dehydogenase. EMG/biopsy

treatment: ventilation support: physiotherapy, b2 agonist, prednisolon, digoxin for HF.

Question 22

Backer muscular dystrophy

Answer 22

XLR mutation in gene producing dystrophun. milder form of duchenne, with some functional dystrophin still produced. Milder, later and slow progression, average age of presentation i 11 yrs, wheelchair by 20s, death 40s. managment: prednisolon, IVIG

Question 23

diff diagnosis of facial nerve palsy

Answer 23

Bells´s: post infetious (HSV, swelling in ear canal), lyme (usually bilateral), Ramsyhunt syndrome 2 (shingels), melkersson tosenthal syndrome (reccuring facial paralysis, swelling of lip and development of fold in tongue.

Question 24

Acute cerebellar ataxia

Answer 24

MCC of ataxia: due to medication, post viral (vzv, coxsackie), medulloblastoma. clinical: vomitingm dysarthria, nystagmus, ataxia.

Question 25

neurofibromatosis type 1 (von reklinghausen disease )

Answer 25

AD mutation on chromosome 17. clinical diagnosis, characterized by > 6 cafe-au lait spots, have inc risk for optic pathway gliomas and other gliomas in CNS. Associated with seizures, learning disability, renovascular htn, scoliosis.

Question 26

neurofibromatosis type 2

Answer 26

AD
bilateral acoustic neuroma –> hearing loss and vestibular disorientation. associated with neurofibromas, meningiomas, schwannomas, astrocytomas.

Question 27

Tuberous sclerosis

skin lesions

Answer 27

AD (but sporadic cases are more common than inherited)
skin lesions: ash-leaf spots (flat hypopigmented lesions, detected under wood lamp examination), shargreen patches (areas of abnormal skin thickening), sabaceous adenomas and ungual fibromas

Question 28

Tuberous sclerosis
tumors
treatment

Answer 28

kidney, heart (cardiac rhabdomyoma) and retina
seizures and MR
antiepileptic thearpy and surgical resection of tumors