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Marinesco‐Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex
Author(s) -
Sakai Kenji,
Tada Mari,
Yonemochi Yosuke,
Nakajima Takashi,
Onodera Osamu,
Takahashi Hitoshi,
Kakita Akiyoshi
Publication year - 2008
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.2008.00884.x
Subject(s) - cytoarchitecture , pathology , tegmentum , ataxia , atrophy , cerebral cortex , medicine , cerebellar ataxia , microcephaly , neuroscience , biology , genetics , central nervous system , midbrain
Marinesco‐Sjögren syndrome (MSS) is a progressive multisystem disease with autosomal recessive inheritance characterized by cataracts, mental retardation, and cerebellar ataxia. Recently, two causative genes for MSS, SIL1 and SARA2 , have been identified. On the other hand, the histopathologic features of the CNS in this syndrome have not yet been clarified in detail. We report here the features of an autopsy case of MSS with progressive myopathy, in which atrophy of the cerebellum and brain stem tegmentum, retinal degeneration, and dysplastic cytoarchitecture in the cerebral cortex were evident. An elder brother of the patient showed quite similar symptoms, implying an autosomal recessive mode of inheritance. However, we detected no mutations in the available genes. This case appears to represent an unusual example of MSS manifesting widespread developmental anomaly and neuronal degeneration in the CNS.