MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY WITH SEVERE MENTAL-RETARDATION AND NORMAL CRANIAL MRI - A REPORT OF 2 SIBLINGS

The evidence of severe structural brain abnormalities in association w ith severe mental retardation is characteristic in congenital muscular dystrophy (CMD) forms other than the 'classical' form. However, it se ems that the nosology of CMD is not complete yet, as we have clinical, immunohistochemical and genetic data suggesting that there are other unclassified forms. Here we report two CMD siblings from a consanguine ous family with partial merosin-deficiency in muscle biopsies, severe mental retardation and normal MRI of the brain. The disease was not li nked to the LAMA2 gene (6q22-23) or to Fukuyama congenital muscular dy strophy (FCMD) (9q31-33). To our knowledge, such an association may co nstitute a new entity within the broad clinical spectrum of CMD. (C) 1 998 Elsevier Science B.V.