DYSTROPHINOPATHY IN A BOY WITH CHEDIAK-HIGASHI-SYNDROME

Chediak-Higashi syndrome (CHS) is a hereditary, biphasic immunodeficie ncy syndrome which usually leads to early death, during the first deca de. The second phase is characterized by a lymphoproliferative syndrom e with histiocytic infiltrations in various tissues. Recently the gene has been identified on chromosome 1q43. In the patient presented here , a mutation within codon 3197 was found, resulting in a frame-shift. Additionally, Duchenne muscular dystrophy (DMD) was diagnosed by immun ostaining of the muscle. Unusual for both CHS and DMD muscle weakness and hypotonia became evident during the first months of life. Compared to typical DMD cases we found an increased histiocytic infiltration i n the muscle. The underlying muscular dystrophy probably predisposes t o the affection of muscle in the second phase of CHS. This patient is presented as an example of modification of the phenotype by a second g enetic disease. (C) 1998 Elsevier Science B.V. All rights reserved.