CONGENITAL MUSCULAR-DYSTROPHY WITH CEREBRAL WHITE-MATTER HYPODENSITY - CORRELATION OF CLINICAL-FEATURES AND MEROSIN DEFICIENCY

We report clinical and pathological findings in 9 children affected by congenital muscular dystrophy with normal or borderline intelligence and hypodensity of cerebral white matter (CMD-HWM), also frequently ca lled 'occidental or western form of cerebro-muscular dystrophy' (OCMD) , Our patients have uniform, distinct, clinical presentation that incl udes: normal or subnormal intelligence, severe, slowly progressive mot or disability, high rate of facial involvement and dysmorphic aspect, increased creatine kinase levels and variable degrees of abnormal, rad iographic, cerebral white matter pattern, By comparing our cases with previous reports we suggest that this subtype of CMD is not uncommon i n Brazil and it is represented by a particularly severe and homogeneou s clinical picture with important motor disability, The immunohistoche mical staining for merosin, performed on the muscle biopsy of 6 among 9 patients, showed that all are merosin negative.