NeuroLearn NeuroHelp Metabolic @ Lysosomal storage disorders, classification
Background Gross Pathology Histopathology & Immunohistochemistry
BACKGROUND AND CLINICAL INFORMATION:
Head
Mucosulfatidosis
(Multiple sulfatase deficiency, Austin disease):
This is a childhood onset lysosomal storage disease
with combined features of mucopolysaccharidosis such as typical facial features,
hepatosplenomegaly, cornea opacities, and X-linked ichthyosis with those of
metachromatic leukodystrophy. Diagnosis is suggested by excess urine
mucopolysaccharides and Alder-Reilly granules in white blood cells.
Biochemistry: There is an absence of arysulfatase A, B, and C and
of mucopolysaccharide sulfatase activity. There is accumulation of sulfatides,
mucopolysaccharides and cholesterol sulfate in CNS and viscera,
Clinical: This disease has combined features of
mucopolysaccharidosis such as typical facial features, hepatosplenomegaly,
cornea opacities, and X-linked ichthyosis with those of metachromatic
leukodystrophy. Onset is around 1 years of age and by 4-5 years, the child is
profoundly retarded. Death usually occur between 3 to 10 years of age.
There is cerebral and cerebral atrophy and thickened meninges which may lead to obstructive hydrocephalus.
HISTOPATHOLOGY AND IMMUNOHISTOCHEMISTRY:
Head
Histology: Abundant deposits of metachromatic
sulphatides in white matter of the brain an dperipheral nerves. Ballooned
neurons with gangliosidic-like storage substances are also found. There is also
storage of water-soluble mucopolysaccharide deposition and sulphatide deposition
in the liver, spleen and kidney.
NeuroLearn NeuroHelp Metabolic For Comment: KarMing-Fung@ouhsc.edu
Background Gross Pathology Histopathology & Immunohistochemistry