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Authors
Takeshita, Kenzo
Keywords
L1 cell adhesion molecule
myelination delay
proteolipid protein
spastic diplegia
X-linked mental retardation syndrome
Abstract
We report three boys (4, 6 and 8 years old) in a Japanese family with X-linked (XL) recessive severe mental retardation (MR), rigidospastic diplegia, mild athetotic movement of the upper limbs, delayed myelination and poor weight gain. Neurological manifestations were non-progressive. No deterioration of development, convulsion, cerebellar signs, dysarthria, pseudobulbar signs, or minor anomalies including facial dysmorphism or macro-orchidism were found. Ocular fundus was normal. The patients' mothers and one grandmother were clinically normal. Blood chemistry was within normal limits. Serum anti-human T-cell leukemia virus-I antibody titer was negative. Levels of plasma amino acids and serum very long chain fatty acids, and lysozomal enzyme activities from leukocytes were normal. Brain magnetic resonance imaging scans showed delayed myelination. Fragile X (FRAXA), fragile XE (FRAXE), proteolipid protein and L1 cell adhesion molecule (L1CAM) genes were normal. These findings were not consistent with previously reported 13 XLMR syndromes with paralysis. We conclude that this condition is a distinct and previously undescribed XLMR syndrome.
Publisher
Tottori University Faculty of Medicine
Content Type
Journal Article
ISSN・ISBN
1346-8049
NCID
AA00892882
Journal Title
Yonago Acta medica
Current Journal Title
Yonago Acta medica
Volume
49
Issue
3
Start Page
77
End Page
82
Published Date
2006-09
Text Version
Publisher
Rights
Yonago Acta medica 編集委員会
Citation
Yonago Acta medica. 2006, 49(3), 77-82
Department
Faculty of Medicine/Graduate School of Medical Sciences/University Hospital
Language
English