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Neuropathology of sanfilippo syndrome
Author(s) -
Ghatak Nitya R.,
Fleming D. Frank,
Hinman Alanson
Publication year - 1977
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410020214
Subject(s) - cerebrum , neuropathology , choroid plexus , cerebellum , ependyma , pathology , anatomy , neuroscience , biology , population , medicine , central nervous system , disease , environmental health
This report describes neuropathological observations in an 11‐year‐old patient with Sanfilippo syndrome (SS). The cerebrum was selectively atrophic, with remarkable sparing of the cerebellum. The existing neurons throughout the cerebrum contained various types of membranous cytoplasmic bodies (MCBs), frequently with special predilection for dendrites. Neuronal population was normal in the cerebellum, with massive accumulation of MCBs in the Purkinje cell dendrites and little or no accumulation in the perkiarya. Synaptic contacts were frequently observed on the distended dendrites. Additional findings included storage of vacuoles and granular material in the pericytes and meningeal cells and finely lamellated inclusions in the ependyma and choroid plexus cells. Preferential involvement of the dendrites might provide a morphological explanation for the severe mental retardation in SS.