af R G 15 år siden
295
Elevated CPK
Pompe = Think Pump
HF, Muscle weakness, Fatigue
Myopathic
Acid maltase deficiency
No abnormal lipid storage
Gaucher cells in Virchow-Robin spaces
Sphingomyelinase defic.
Ganglioside buildup, "Zebra bodies"
MPS 2
Hunter
MPS 1
Hurler
Lipofuscin-like pigment in neurons, leukocytes
Seizure, blindness frequent
Autofloresces green
Hexosaminidase defic
GM2 ganglioside toxicity
Blindness
Symptoms
Adrenal insufficiency
Spastic paraplegia
Needle-like cells
Fatty acyl-CoA ligase
Turns black on toluidine blue
Myelin loss, spared subcortical u-fibers
Arylsulfatase deficiency
Cerebroside sulfate toxicity
Die before 1 year
galactocerebroside beta-galacctocerebrosidase
Path
Multinucleated globoid cells around blood vessels
Myelin loss in CNS & PNS
Psychosine toxicity
Hyperirritable
Enlarged
Dandy-Walker
Absent vermis
cyst protrudes from 4th ventricle
Arnold-Chiari
Hydrocephalus
Lumbar myelomeningocoele
Herniated vermis, foramen magnum
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
Volume
Small
Microencephaly
Large
Megalencephaly
Convolutions
Too little
Lissencephaly (agyria)
Too many
Polymicrogyria
