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.
Ciofu
C
C
Institute for Care of Mother and Child, Alfred Rusescu, Bucharest, Romania.
Laky
D
D
Craiu
I
I
Abousaad
O
O
D003286:Contracture / Q000150:complications / Q000151:congenital*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications*