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Myopathy, Unique Clinical Features, and Brain Malformations Mimicking Fukuyama Congenital Muscular Dystrophy: A Case Report
Author(s) -
Nakayama Hiroshi,
Ando Susumu,
Tomi Hideaki,
Sunohara Nobuhiko,
aka Ikuya,
Eto Komyo,
Satoyoshi Eijiro
Publication year - 1993
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.1440-1789.1993.tb00205.x
Subject(s) - medicine , congenital muscular dystrophy , pachygyria , muscular dystrophy , atrophy , macroglossia , progressive muscular atrophy , autopsy , pathology , anatomy , lissencephaly , disease , tongue , amyotrophic lateral sclerosis , biology , biochemistry , gene
The pathological findings of an adult woman and clinical features of her brothers identified a new type of congenital muscular dystrophy with brain malformation. The 40‐year‐old woman, born to parents who were first cousins, was retarded in both mental and physical development from early infancy. She had a monkey‐like face with macroglossia, dwarfism, decreased subcutaneous fat with hard skin, joint contracture, and muscular atrophy and weakness with myopathic changes, but she was able to walk until the age of 31 years. Two brothers showed clinical features more or less similar to hers, but their mental and physical development was not severely retarded. Autopsy of the patient revealed that the brain malformation consisted of micropolygyria and pachygyria, and the muscular atrophy was of the normal dystrophin type. In addition, presenile occurrence of Alzheimer's neurofibrillary tangles was prominent in the malformed brain. The overall picture was that of congenital muscular dystrophy of the Fukuyama type, demonstrating an adult variant of the disease.