CONGENITAL MUSCULAR-DYSTROPHY AND SEVERE CENTRAL-NERVOUS-SYSTEM ATROPHY IN 2 SIBLINGS

Severe degenerative features of the nervous system of a hither-to unkn own kind, associated with a neuromuscular disorder with histopathologi cal features of congenital muscular dystrophy, are reported in two fem ale siblings. The clinical profile was characterized by generalized hy potonia followed by spastic tetraplegia, contractures, polyneuropathy, lack of cognitive development and progressive microcephaly. There was no involvement of the eyes. Neuropathological examination of the brai n of one sibling, who died at the age of 30 months, revealed subtotal loss of neurons in the cerebral and cerebellar cortex and in the ventr al pens, and secondary loss of myelin in the cerebral and cerebellar s ubcortical white matter. Sural nerve biopsy in the other sibling, who had a similar neurological affection, showed a lack of large myelinate d fibers.