Two brothers with motor retardation since the first months of life presented waddling ataxic-gait with lumbar lordosis, joint contractures and generalized muscle weakness. Both presented altered cerebellar tests and scanning speech. Creatine kinase, electromyography (EMG) and muscle biopsy pointed to muscular disease while CT scanning and NMR imaging showed cerebellar vermis agenesis. On this evidence we diagnosed the unusual association of vermian agenesis and congenital muscular dystrophy. © 1988 Masson Italia Editori.

Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers

Bongiovanni L. G.;Tomelleri G.;
1988

Abstract

Two brothers with motor retardation since the first months of life presented waddling ataxic-gait with lumbar lordosis, joint contractures and generalized muscle weakness. Both presented altered cerebellar tests and scanning speech. Creatine kinase, electromyography (EMG) and muscle biopsy pointed to muscular disease while CT scanning and NMR imaging showed cerebellar vermis agenesis. On this evidence we diagnosed the unusual association of vermian agenesis and congenital muscular dystrophy. © 1988 Masson Italia Editori.
cerebellar vermis agenesis; Congenital muscular dystrophy;
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/14570
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