Infantile spinal amylotrophy Werding-Hoffman disease and congenital contractures.
The authors present a rare case of a male infant aged 5 1/2 months with muscular contractures, hypotonia and areflexia. Two male siblings died with the same clinical picture. The microscopic findings of several spinal cord specimens are typical for Werding-Hoffman amylotrophia spinalis. The microscopical aspects are suggestive for neurogenic atrophy of muscular fibres with interstitial myositic process. It is proposed to include the present case in X-linked form of infantile spinal muscular atrophy.
Institute for Care of Mother and Child, Alfred Rusescu, Bucharest, Romania.
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Ciofu
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Laky
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Craiu
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Abousaad
D003286:Contracture / Q000150:complications / Q000151:congenital*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications*