Pedi Neuropath

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Lysosomal Storage Diseases

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การบีบตัวของหัวใจระยะ Systole

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Pedi Neuropath

Leukodystrophies / Lysosomal

Lysosomal

Pompe's

Elevated CPK

Pompe = Think Pump

HF, Muscle weakness, Fatigue

Myopathic

Acid maltase deficiency

Gaucher

No abnormal lipid storage

Gaucher cells in Virchow-Robin spaces

Neimann-Pick

Sphingomyelinase defic.

MPS

Ganglioside buildup, "Zebra bodies"

MPS 2

Hunter

MPS 1

Hurler

Neuronal Ceroid lipofuscinosis

Lipofuscin-like pigment in neurons, leukocytes

Seizure, blindness frequent

Autofloresces green

Tay-Sachs

Hexosaminidase defic

GM2 ganglioside toxicity

Blindness

Leukodystrophy

Adrenoleukodyst

Symptoms

Adrenal insufficiency

Spastic paraplegia

Needle-like cells

Fatty acyl-CoA ligase

Metachromatic leukodyst

Turns black on toluidine blue

Myelin loss, spared subcortical u-fibers

Arylsulfatase deficiency

Cerebroside sulfate toxicity

Krabbe's

Die before 1 year

galactocerebroside beta-galacctocerebrosidase

Path

Multinucleated globoid cells around blood vessels

Myelin loss in CNS & PNS

Psychosine toxicity

Hyperirritable

Malformations

Posterior fossa

Enlarged

Dandy-Walker

Absent vermis

cyst protrudes from 4th ventricle

Arnold-Chiari

Hydrocephalus

Lumbar myelomeningocoele

Herniated vermis, foramen magnum

Forebrain

D/O of Organogenesis

Agenesis of corpus callosum

Brain halves don't communicate

"Batwing" X-ray

Holoprosencephaly

Poikilothermia

"Horseshoe" brain

Fused basal ganglia

Absent olfactory nerves

Incomplete separation of hemispheres

D/O of Cell migration

Volume

Small

Microencephaly

Large

Megalencephaly

Convolutions

Too little

Lissencephaly (agyria)

Too many

Polymicrogyria

NTDs

Myelomeningocoele

Meningocoele

Spina bifida occulta

Anencephaly