Progressive muscular dystrophy with congenital adrenal hypoplasia: an unusual autopsy case.
A 3 1/2-year-old child with progressive muscular dystrophy (PMD) and congenital adrenal hypoplasia (CAH) is described. Symptoms and signs of adrenocortical insufficiency appeared shortly after birth. Despite corticosteroid therapy, the muscular weakness and elevated CK level continued. A diagnosis of Duchenne muscular dystrophy was made on the basis of clinical signs and characteristic muscle biopsy. The affection of his older brother suggests an X-linked recessive inheritance. The autopsy revealed a very rare combination of cytomegalic type CAH and PMD. This combination suggests that a small deletion of X-chromosome might be responsible for the two disorders.
D000311:Adrenal Glands / Q000002:abnormalities*; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics / Q000473:pathology; D012729:Sex Chromosome Aberrations; D012867:Skin / Q000473:pathology; D013577:Syndrome; D014960:X Chromosome