[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases].
Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and atrophy since his birth. Serum CPK was markedly elevated. EMG and muscle biopsy proved dystrophic changes of the skeletal muscles. In addition, he manifested mental retardation and attacks of convulsion. EEG failed to elicit remarkable changes, but PEG represented ventricular dilatation. He died of respiratory insufficiency at age 12. His postmortem examination showed variegated anomalies in the nervous system. Extensive micropolygyria was present in the cerebrum and cerebellum accompanied by adhesions between the bilateral cerebral hemispheres. Assymmetry of the longitudinal fibers was pointed out in the pontine base. Anterior horn cells were atrophic and moderately depopulated. On the other hand, the second patient was an atypical F-CMD case in symptoms, signs and pathology. His grand-mothers on both father's and mother's sides wee first cousins. His three siblings showed no similar disorders. His mother developed slight gestational toxicosis in the sixth and seventh months of pregnancy. His muscle weakness, contracture of the bilateral hip-joints and clubfoot had been observed since his birth. Physical and neurological examinations at age 6 showed deformity of the skull, myopathic face, macroglossia, high-arched palate, pigeon chest, scoliosis of the thoracic spine. In addition, generalized muscular atrophy, hypotonia and areflexia were recognized. Pseudohypertrophy of the muscles was absent. Sensation was intact to all modalities. Serum CPK and LDH were moderately increased.(ABSTRACT TRUNCATED AT 250 WORDS)
D000293:Adolescent; D001921:Brain / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008297:Male; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000145:classification / Q000151:congenital* / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology
D007770:L-Lactate Dehydrogenase; D003402:Creatine Kinase