Syndromes: Neurologic Flashcards
Microcephaly vera
ASPM, WDR62
Periventricular heterotopia (AD)
FLNA
Periventricular heterotopia (AR)
ARFGEF2
Band heterotopia (XD)
DCX
Band heterotopia (XR)
ARX
Lissencephaly (AD)
LIS1, TUBA1A
Lissencephaly (XL)
DCX, ARX
Posterior lissencephaly
DYNC1H1, CEP85L
Lissencephaly with cerebellar hypoplasia (AR)
RELN, VLDLR
Type 2 Lissencephaly/Walker-Warburg
POMT1/2, Fukutin
Type 2 Lissencephaly/Muscle-Eye-Brain disease
POMGnT1
Polymicrogyria + macrocephaly
mTOR pathway (PIK3CA, PIK3R, mTOR, AKT3, CCND2)
Polymicrogyria + microcephaly
ASPM, WDR62, RAP3GAP2
Polymicrogyria + normocephaly
Tubulinopathies (TUBB2B), ion channels (SCN3A)…
Order of myelination
Projection before association, peripheral before central, sensory before motor (proprioception, vision, then auditory). Pyramidal tract myelination occurs with developmental milestones.
0-6mo with hyperirritability, arching, hyporeflexia. Rapid decline to seizures and death. MRI: Posterior demyelination without contrast enhancement.
Classic infantile Globoid cell leukodystrophy/Krabbe disease; GALC
3-8yo with spasticity, abnormal gait with frequent falls, rarely ocular abnormalities. MRI: posterior demyelination without contrast enhancement.
Juvenile onset Globoid cell leukodystrophy/Krabbe disease; GALC
<18mo, progressive macrocephaly, poor head control, delayed sitting, hypotonia, nystagmus. MRI: edematous white matter esp. basal ganglia demyelination & subcortical U-fibers, high NAA on MRS.
Canavan disease: N-acetylaspartoacylase
Newborn with respiratory distress, poor feeding, fluctuation in tone, and refractory seizures. MRI: cavitation of posterior white matter.
Sulfite oxidase deficiency; detectable with + urine sulfite dipstick or elevated urine thiosulfate and sulfocysteine
6-15mo with arrest in development, pain with minimal passive movement of limbs. Diffuse (butterfly) demyelination with sparing of subcortical U-fibers.
Late infantile onset Metachromatic leukodystrophy: ARSA/arylsulfatase A
3-8yo behavioral changes, tremor, gait difficulties, and seizures. MRI: diffuse (butterfly) demyelination with sparing of subcortical U fibers.
Juvenile onset Metachromatic leukodystrophy: ARSA/arylsulfatase A