12 Jan 24

Question 1

REM sleep behavior disorder association

Answer 1

Alpha synuclein neurodegenerative dx
Parkinsons
LEwy body dementia
Multiple system atrophy

Question 2

Huntingtons Dx loss of which neurotransmitters

Answer 2

GABA

Question 3

Imaging finding in huntington dx

Answer 3

Atrophy of caudate and putamen

Question 4

C/F of huntingtons dx

Answer 4

Psych:

  Depression. 
  Irritability 
  Psychosis 

Cognitive:

  Cognitive screen 24/30
  Missing deadlines
  Forgetting imp things 

Neurologic

  Chorea 
  Restlessness and fidgeting 
  Abrupt facial exp changes 
  Motor impersistence (unable to maintain firm grasp)


  CAGED Caudate Autosomal dominant  GAbA Executive dysfunction  Delayed saccades

Question 5

Pt in 20s with SNHL
Mother had SNHL in 20s too

Answer 5

NF2

Question 6

NF-2 C/F

Answer 6

🚘B/L vestibular schwannomas (acquired are U/L)
🚘Intracranial meningiomas
🚘Spinal tumors (schwannomas, ependymomas)
🚘Cataracts
🚘Cutaneous tumors and skin plaques

Question 7

Tumor surveillance for NF2

Answer 7

Audiogram
Ophthalmologic evaluation
MRI brain and spine

Question 8

Rett syndrome C/P

Answer 8

Onset 6m to 18m
Girls mostly
Initially normal development then;

🛵 regression of speech 
🛺 loss of purposeful hand use, stereotypical movements (twisting of fingers, rocking back n forth) 
🛞 gait abnormalities 
🚨 breathing abnormalities (alternating hyper and hypoventilation during periods of heightened emotion and ass with stereotypical movements) 
🚠 deceleration of head growth (microcephaly )
🎯 autistic behavior 
🎳 seizures

Question 9

Rett syndrome stages

Answer 9

Stage 1: Early onset 6m to 18m :

    Loss of interest in play 
    No longer maintain eye contact 

Stage 2: Rapid deterioration 1-4y :

   Regressed speech & motor skills
   Repetitive hand movements 
   Hyperventilation & breath holding 

Stage 3: Plateau(pseudostationary) 2-10y :

   Inc attention span 
   Eye contact 
   Communicate 
   Seizures 
   Apraxia 

Stage 4: Late motor deterioration
10y -lifetime :

   Progressive muscle weakness , rigidity & spasticity 
   Scoliosis
   Cognitively stable

Question 10

Rett syndrome genetics

Answer 10

MECP 2 mutations
Decreased amount of MECP2 leads to decreased brain developement

Question 11

NF1 and intracranial neoplasms

Answer 11

Optic pathway glioma (childhood tumour)
Causes headache and dec visual acuity in children
Signs of inc ICP
Morning headache

Astrocytomas

Brainstem Gliomas

Question 12

NF1 C/F

Answer 12

Cafe au leit spots
Clustered freckles axilla and inguinal
Lisch nodules (iris hamartomas
Neurofibromas
Optic glioma
Pseudoarthrosis
Scoliosis

Question 13

VHL C/P

Answer 13

👹Cerebellar and retinal hemangioblastomas
👹Pheochromocytoma
👹Renal cell carcinoma-clear cell type

Retinal and CNS hemanioblastomas are initial neoplasms and can cause dec visual acuity , glaucoma , vision loss.

HARPPE
Hemangioblastoma retina
Angiomatosis
RCC
Pheochromocytoma
Pancreatic tumor
Endolymphatic sac tumor

Question 14

Management of VHL

Answer 14

🧠 surveillance for cancers
Eye retinal exam
Plasma and urine metanephrines
MRI brain and spine
MRI abdomen
🧠 Tumour resection

Question 15

Niemann Pick dx enzyme

Answer 15

Sphingomyelinase def

Question 16

Niemann pick C/F

Answer 16

Picks liver leaves reflexes

Hepatospleenomagaly
Areflexia
Hypotonia
Feeding difficulty
Loss of motor milestones
Cherry red spot in macula

Question 17

Tay sach enzyme and C/F

Answer 17

B hexosaminidase A def

C/F ;
Same as neimann

Hyperreflexia
Normal liver

Question 18

Friedreich ataxia c/f

Answer 18

GAA repeats in frataxin gene

Ataxia (spinocerebellar tract)
Loss of position and vib ( dorsal coulmn and dorsal root)
Spastic weakness. (lateral CS tract)
Dysarthria
Loss of DTR
Pes cavus (high arched feet)
Kyophoscoliosis
HOCM death by age 40

Question 19

Microcephaly def

Answer 19

Head circumference < 3 percentile for age

Question 20

Benign familial microcephaly features

Answer 20

🧑🏼‍🦲Absence of dysmorphic features
🧑🏼‍🦲Normal dev
🧑🏼‍🦲Normal head shape and neuro exam
🧑🏼‍🦲Absence of rapidly decling growth percentiles

Ttt: measure parents HCs

Question 21

Pathological microcephaly c/f

Answer 21

Neurological abnormalities
Dysmorphic features
Rapidly declining HC percentiles

Ttt: MRI brain (to detect cause of inadequate brain growth)

Question 22

Malignant hyperthermia C/F and ttt

Answer 22

Generalized rigidity
Sinus tachycardia
Hypercarbia (does not improve with inc minute ventilation)
Rhabdomyolysis
Myoglobinuria
Hyperkalemia
Hyperthermia (late feature)

Ttt: resp support
Cessation of anesthetic
Dantrolene

Question 23

NF1 common tumors

Answer 23

Neurofibromas ( peripheral nerve sheath tumors ) involving skin and soft flesh colored nodules or papules that appear in adolescence and increase in number with age.

Optic pathway gliomas

CNS tumors

Pheochromocytoma