title: Dystrophinopathy in a boy with Chediak-Higashi syndrome.
abstract: Chediak-Higashi syndrome (CHS) is a hereditary, biphasic immunodeficiency syndrome which usually leads to early death, during the first decade. The second phase is characterized by a lymphoproliferative syndrome 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 immunostaining 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 in the muscle. The underlying muscular dystrophy probably predisposes to 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 genetic disease.
authors.affiliation: Department of Neuropediatrics, HU Berlin, Germany. arpadmoe@ukrv.de
authors.forename: A
authors.initials: A
authors.lastname: von Moers
authors.forename: F K
authors.initials: FK
authors.lastname: van Landeghem
authors.forename: R D
authors.initials: RD
authors.lastname: Cohn
authors.forename: E
authors.initials: E
authors.lastname: Baumgarten
authors.forename: J
authors.initials: J
authors.lastname: Bürger
authors.forename: G
authors.initials: G
authors.lastname: Stoltenburg-Didinger
mesh_terms: D002609:Chediak-Higashi Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D016189:Dystrophin / Q000032:analysis / Q000235:genetics; D017809:Fatal Outcome; D016368:Frameshift Mutation; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018908:Muscle Weakness / Q000150:complications / Q000473:pathology; D009132:Muscles / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics / Q000473:pathology*; D011506:Proteins / Q000235:genetics; D033921:Vesicular Transport Proteins
chemical_list: D016189:Dystrophin; C102161:LYST protein, human; D011506:Proteins; D033921:Vesicular Transport Proteins