Pedi Neuropath

Malformations

NTDs

Anencephaly

Spina bifida occulta

Meningocoele

Myelomeningocoele

Forebrain

D/O of Cell migration

Convolutions

Too many

Polymicrogyria

Too little

Lissencephaly (agyria)

Volume

Large

Megalencephaly

Small

Microencephaly

D/O of Organogenesis

Holoprosencephaly

Incomplete separation of hemispheres

Absent olfactory nerves

Fused basal ganglia

"Horseshoe" brain

Poikilothermia

Agenesis of corpus callosum

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Brain halves don't communicate

"Batwing" X-ray

Posterior fossa

Posterior fossa

Small

Arnold-Chiari

Herniated vermis, foramen magnum

Lumbar myelomeningocoele

Hydrocephalus

Enlarged

Dandy-Walker

Absent vermis

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cyst protrudes from 4th ventricle

Leukodystrophies / Lysosomal

Leukodystrophy

Krabbe's

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Die before 1 yeargalactocerebroside beta-galacctocerebrosidase

Hyperirritable

Psychosine toxicity

Path

Myelin loss in CNS & PNS

Multinucleated globoid cells around blood vessels

Metachromatic leukodyst

Arylsulfatase deficiency

Cerebroside sulfate toxicity

Myelin loss, spared subcortical u-fibers

Turns black on toluidine blue

Adrenoleukodyst

Fatty acyl-CoA ligase

Needle-like cells

Symptoms

Spastic paraplegia

Adrenal insufficiency

Lysosomal

Tay-Sachs

Blindness

Hexosaminidase defic

GM2 ganglioside toxicity

Neuronal Ceroid lipofuscinosis

Autofloresces green

Seizure, blindness frequent

Lipofuscin-like pigment in neurons, leukocytes

MPS

MPS 1

Hurler

MPS 2

Hunter

Ganglioside buildup, "Zebra bodies"

Neimann-Pick

Sphingomyelinase defic.

Gaucher

Gaucher cells in Virchow-Robin spaces

No abnormal lipid storage

Pompe's

Acid maltase deficiency

Myopathic

Symptoms

HF, Muscle weakness, Fatigue

Elevated CPK

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Pompe = Think Pump