Syndromes Flashcards
Progressive neuro dysfunction
Variable sx: ataxia, dementia, dysarthria, dysphasia, sz (gelastic, atonic), psychosis, supra nuclear vertical gaze palsy, hepatosplenomegaly
Auto recessive lysosomal storage disorder
Niemann-Pick Disease, type C
Spasmus Nutans
Triad
Nystagmus
Head shaking
Torticollis
Gradenigo Syndrome
Triad
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)
Unverricht-Lundborg disease
Progressive myoclonic epilepsy type 1 Neurodegenerative Auto recessive Onset 6-16 Stimulus sensitive myoclonus GTC Yrs--> ataxia, intention tremor, dysarthria
Barth syndrome
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
Ramsey Hunt Syndrome
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
Respiratory alkalosis
Normal serum glucose
Normal anion gap
High ammonia
Urea Cycle defect
Niemann Pick Type C
Hepatosplenomegaly Gait probs, falls, clumsiness 3-5 years Lang delay Vertical supra nuclear Gaze Palsy - almost always present Cataplexy (gelastic) Dysphagia, dysarthria, dementia
Lennox Gastaut triad
Multiple sz types
Slow spike wave on EEG
Intellectual disability
Progressive Myoclonic Epilepsies
5 main disorders
Unverricht-Lundborg disease
MERRF
Lafora body disease
Neuronal ceroid lipofuscinosis
Sialidosis (cherry red spot myoclonus syndrome)
All lysosomal (except lafora peroxisomal)
Failure to thrive Photosensitivity Intermittent ataxia Nystagmus Tremor Variable presentation during infancy
Hartnup Disease = pellagra like dermatosis
Altered absorption of nonpolar AA (tryptophan) –> poor B complex vitamins
Auto recessive
Urine organic acids
Smith Lemli Opitz
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
Allan Herndon Dudley Syndrome
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
Ataxia-Telangectasia
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
Nystagmus Hypotonia Tremors Titubation Ataxia Spasticity Athetosis Cog impairment
Pelizaeus-Merzbacher Disease
Leukodystrophy with hypomyelination
Most common hereditary ataxia
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
PHACE syndrome
Posterior fossa malformation Hemangioma Arterial anomalies Coarctation Aorta or other Cardiac Abn Eye Abn
Incr risk Stroke
Simpson Golabi Bemel Syndrome
Macro -somia, -cephaly, -stomia, -glossia Coarse facial features Mild to severe ID w/wo structural Abn Incr risk for embryonal tumors X linked
Septo Optic Dysplasia
2 of 3:
Optic nerve hypoplasia
Hypopit with pituitary hypoplasia
Midline forebrain defects
Mutation in homeobox gene HESX1
Nystagmus, hypotonia
Tremors, titubation
Ataxia, athetosis, spasticity
Cognitive impairment
Pelizaeus-Merzbacher Disease
X-linked proteolipid protein 1 gene PLP1
MRI: diffuse hypomyelination
Adolescent:
Action myoclonus, slowly progressive ataxia,
Tonic clinic seizures, vision loss
Type I Sialidosis. Cherry red spot fundoscopic
Auto recessive Neu1 Chr 6p
Def of alpha-neuraminidase
Urine metabolites high
Myoclonus Coarse facial features Hepatomegaly Skeletal Dysplasia Corneal clouding Learning disabilities
Type II Sialidosis (progressive myoclonic epilepsy) def of N-acetyl neuraminidase and Beta galactosialidase. Onset 0-20 auto recessive Chr 6 Urine sialyloligosaccharides
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
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
Usher Syndrome
Retinitis pigmentosa (night v, peripheral) Hearing loss - at birth Balance probs - delayed sit, walk (18 mos)
