Mucopolysaccharidosis Type Iii (Sanfilippo's Syndrome)

Abstract

In a clinically diagnosed case of Sanfilippo's syndrome (Mucopolysaccharidosis type III) histopathological examination of the eyes revealed accumulation of a granular material mainly in the sclera and to a lesser degree in the cornea and ciliary body. Similar scleral changes have previously been reported in various types of mucopolysaccharidosis in six cases only, and ciliary body changes in two cases only. It is emphasized that ocular involvement including corneal changes may be found histopathologically even if not clinically detected. The main histopathological findings in the cerebrum and cerebellum were ballooning of ganglion cells similar to the findings in other types of storage disease. By applying a battery of histochemical methods to the ocular and cerebral material, the findings indicated 1) a difference between the stored material in the brain and in the eyes, 2) that the stored material in the ganglion cells of the brain was probably of a ganglioside nature and 3) that the material in the eyes was consistent with an acid mucopolysaccharide, undoubtedly sul‐phated and probably rich in heparitin sulphate. These findings are compared with the suggested biochemical changes and the correlation between these and the morphology is discussed. The writer is in favour of the theory of a basic enzyme defect leading to accumulation of the granular material in the cells. Addition of normal and pathological cytoplasmic constituents are probably responsible for the difference in histochemical findings, especially in fibrocytes and ganglion cells, as revealed by the present study. The eyes have not previously been histopathologically or histochemically examined in Sanfilippo's syndrome.

Temporospatial Development of Neuropathologic Findings in a Canine Model of Mucopolysaccharidosis IIIB

“…4 Gross pathologic findings in the CNS consist of bilateral ventriculomegaly, cerebral atrophy, and variable degrees of meningeal thickening. 21,23,30,56 Grossly, dogs with MPS IIIB demonstrated a similar ventriculomegaly and atrophy of the cerebrum and cerebellum at an advanced stage of the disease (4-5 years of age). 12…”

“…4 Gross pathologic findings in the CNS consist of bilateral ventriculomegaly, cerebral atrophy, and variable degrees of meningeal thickening. 21,23,30,56 Grossly, dogs with MPS IIIB demonstrated a similar ventriculomegaly and atrophy of the cerebrum and cerebellum at an advanced stage of the disease (4-5 years of age). 12 Histologic features of brains from human MPS IIIB patients are characterized by cytoplasmic vacuolation and distension of neurons and glia due to excessive storage of both HS and gangliosides (GM2 and GM3), and variable degrees of gliosis.…”