Premium
Multifocal glial nodules in a case of Duchenne muscular dystrophy with severe mental retardation
Author(s) -
Itoh Kyoko,
Jinnai Kenji,
Tada Kazuo,
Hara Kiyokazu,
Itoh Hiroshi,
Takahashi Keiichi
Publication year - 1999
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1046/j.1440-1789.1999.00240.x
Subject(s) - pathology , synaptophysin , neurofilament , glial fibrillary acidic protein , giant cell , medicine , biology , immunohistochemistry
A case of Duchenne muscular dystrophy with multifocal hamartomatous glial nodules in the cerebral cortex is reported. The patient had suffered severe mental retardation since boyhood, dying of aspiration pneumonia at the age of 23 years. Post‐mortem examination revealed an atrophic brain with normal gyri. Microscopically, multifocal small nodules composed of bizzare astrocytic cells, multinucleated cells, neuron‐like cells, small astrocytes and glial fibers were found in the first, fifth and sixth layers of the prefrontal cortex. Some of the bizarre cells showed intense immunoreactivity for glial fibrillary acidic protein and moderate to very weak reactivity for ubiquitin, tau protein and αB crystallin but no immunoreactivity for neurofilament and synaptophysin, suggesting that these cells were of astrocytic origin. The nodules were considered to be due to hamartomatous changes that had occurred in the early stage of brain development, and that might have been partly responsible for the pathogenetic mechanisms of mental retardation.