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Sanfilippo B syndrome. A case report

K Shimamura, H Hakozaki, K Takahashi

Acta Pathologica Japonica

|November 1, 1976

Summary

This study details a Sanfilippo B syndrome case in a child, revealing widespread cellular changes and enzyme deficiency. Findings highlight the accumulation of specific substances in affected organs, offering insights into the disease pathology.

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Area of Science:

Biochemistry
Cell Biology
Pathology

Background:

Sanfilippo B syndrome is a rare genetic disorder.
Characterized by the deficiency of alpha-N-acetyl-D-glucosaminidase.
Leads to the accumulation of heparan sulfate in tissues.

Observation:

Autopsy of a 9-year-old girl diagnosed with Sanfilippo B syndrome.
Generalized cytoplasmic swelling and vacuolization observed in various organs.
Accumulation of acidic glycosaminoglycans and lipids in vacuolated cells and neurons.

Findings:

Biochemical confirmation of heparan sulfate excess and enzyme deficiency.
Ultrastructural analysis revealed two types of cellular inclusions.
Enzyme cytochemistry showed acid phosphatase activity in cellular inclusions.

Implications:

The case presents more generalized morphological changes than previously reported.
Discusses the pathogenesis of observed cellular alterations.
Contributes to understanding the histochemical and ultrastructural features of Sanfilippo B syndrome.

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