Syndromes

Question 1

Progressive neuro dysfunction
Variable sx: ataxia, dementia, dysarthria, dysphasia, sz (gelastic, atonic), psychosis, supra nuclear vertical gaze palsy, hepatosplenomegaly

Answer 1

Auto recessive lysosomal storage disorder

Niemann-Pick Disease, type C

Question 2

Spasmus Nutans

Triad

Answer 2

Nystagmus
Head shaking
Torticollis

Question 3

Gradenigo Syndrome

Triad

Answer 3

Otitis media, suppurative
Abducens palsy
Facial pain in trigeminal distribution

Typically affecting petrous apex of temporal bone ( in contact with CN, dura, brain, vessels plus communicates with middle ear)

Question 4

Unverricht-Lundborg disease

Answer 4

Progressive myoclonic epilepsy type 1
   Neurodegenerative
   Auto recessive
  Onset 6-16
  Stimulus sensitive myoclonus
  GTC
  Yrs--> ataxia, intention tremor, dysarthria

Question 5

Barth syndrome

Answer 5

X-linked, almost all males.  Tafazzin gene
Cardiomyopathy
Hypotonia infancy
Neutropenia
Growth delay
Muscle weakness 
Cardiolipin Abn. Mitochondrial probs
Labs: incr 3-MGA in urine

Question 6

Ramsey Hunt Syndrome

Answer 6

Peripheral facial nerve palsy
+ zoster oticus (erythematous vesicular rash)
Or in the mouth.

May have: tingling, hearing loss, n/v, vertigo, nystagmus

Assoc with VZV

Question 7

Respiratory alkalosis
Normal serum glucose
Normal anion gap
High ammonia

Answer 7

Urea Cycle defect

Question 8

Niemann Pick Type C

Answer 8

Hepatosplenomegaly
Gait probs, falls, clumsiness 3-5 years
Lang delay
Vertical supra nuclear Gaze Palsy - almost always present
Cataplexy (gelastic)
Dysphagia, dysarthria, dementia

Question 9

Lennox Gastaut triad

Answer 9

Multiple sz types
Slow spike wave on EEG
Intellectual disability

Question 10

Progressive Myoclonic Epilepsies

5 main disorders

Answer 10

Unverricht-Lundborg disease
MERRF
Lafora body disease
Neuronal ceroid lipofuscinosis
Sialidosis (cherry red spot myoclonus syndrome)
All lysosomal (except lafora peroxisomal)

Question 11

Failure to thrive
Photosensitivity
Intermittent ataxia
Nystagmus
Tremor
  Variable presentation during infancy

Answer 11

Hartnup Disease = pellagra like dermatosis
Altered absorption of nonpolar AA (tryptophan) –> poor B complex vitamins
Auto recessive
Urine organic acids

Question 12

Smith Lemli Opitz

Answer 12

7 dehydro-cholesterol low (10% have Nml)
Microcephaly, ID, autism
Malform heart, lungs, kidney, GI, genitals hypospadias
Hypotonia, feeding probs, slow growth
Syndactyly, polydactyly postaxial, cleft palate
Caucasians

Question 13

Allan Herndon Dudley Syndrome

Answer 13

Mct8 deficiency
thyroid hormone transporter CNS
X linked
High T3, low normal T4, high normal TSH
Congenital hypotonia progress to spastic and dystonic
Open mouth, tented upper lip
Muscular hypoplasia, ID

Question 14

Ataxia-Telangectasia

Answer 14

before age 5:
Cerebellar ataxia, Oculomotor apraxia, Choreoathetosis, Telangectasias (conjunctival and cutaneous)
Recurrent infx and leukemia/lymphoma
Labs: incr AFP, CEA, low Ig
Hypersensitive to radiation
ATM gene fx in DNA repair
Life expectancy ~20

Question 15

Nystagmus
Hypotonia
Tremors
Titubation
Ataxia
Spasticity
Athetosis
Cog impairment

Answer 15

Pelizaeus-Merzbacher Disease

Leukodystrophy with hypomyelination

Question 16

Most common hereditary ataxia

Answer 16

Friedreich ataxia
Triplet expansion repeat disorder of frataxin gene
Nuclear encoded mitochondrial disorder
Iron accumulates in mitochondria
Progressive ataxia, no LE reflexes, babinski, sensory neuropathy
Cardiomyopathy, diabetes mellitus

Question 17

PHACE syndrome

Answer 17

Posterior fossa malformation
Hemangioma
Arterial anomalies
Coarctation Aorta or other Cardiac Abn
Eye Abn

Incr risk Stroke

Question 18

Simpson Golabi Bemel Syndrome

Answer 18

Macro -somia, -cephaly, -stomia, -glossia
Coarse facial features
Mild to severe ID w/wo structural Abn
Incr risk for embryonal tumors
X linked

Question 19

Septo Optic Dysplasia

Answer 19

2 of 3:
Optic nerve hypoplasia
Hypopit with pituitary hypoplasia
Midline forebrain defects

Mutation in homeobox gene HESX1

Question 20

Nystagmus, hypotonia
Tremors, titubation
Ataxia, athetosis, spasticity
Cognitive impairment

Answer 20

Pelizaeus-Merzbacher Disease
X-linked proteolipid protein 1 gene PLP1
MRI: diffuse hypomyelination

Question 21

Adolescent:
Action myoclonus, slowly progressive ataxia,
Tonic clinic seizures, vision loss

Answer 21

Type I Sialidosis. Cherry red spot fundoscopic
Auto recessive Neu1 Chr 6p
Def of alpha-neuraminidase
Urine metabolites high

Question 22

Myoclonus
Coarse facial features
Hepatomegaly
Skeletal Dysplasia
Corneal clouding
Learning disabilities

Answer 22

Type II Sialidosis (progressive myoclonic epilepsy)
  def of N-acetyl neuraminidase and Beta galactosialidase. 
  Onset 0-20
  auto recessive Chr 6
  Urine sialyloligosaccharides

Question 23

Seizures: myoclonic, atypical absence, atonic, complex partial, occipital with transient blindness and visual hallucinations
Dysarthria, Ataxia
Emotional disturbance
Cognitive decline --> dementia 
Age 12-17 yrs

Answer 23

Lafora body disease
Progressive myoclonic epilepsy
Auto recessive EPM2A gene on Chr 6q
EEG: spike wave dc evolves into occipital prom Abn and generalized bursts
Skin biopsy: intracellular lafora bodies
Death within 10 yrs onset

Question 24

Usher Syndrome

Answer 24

Retinitis pigmentosa (night v, peripheral)
Hearing loss  - at birth
Balance probs - delayed sit, walk (18 mos)

Question 25

Parinaud syndrome

Answer 25

< mass effect on tectum
Failure of upgaze
Pupillary dilation
Poor pupillary response to light
Retraction convergence nystagmus