PMID: 3766905Jan 1, 1986Paper

Progressive muscular dystrophy with congenital adrenal hypoplasia: an unusual autopsy case

Brain & Development
T ToyofukuH Nagafuji

Abstract

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.

References

Dec 1, 1960·Archives of Disease in Childhood·J F Boyd, A M Macdonald

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Citations

Sep 1, 1991·Journal of the Neurological Sciences·E ArikawaK Arahata
Oct 1, 1993·Journal of the Neurological Sciences·Y K HayashiK Arahata
Apr 1, 1995·Journal of the Neurological Sciences·Q H LeytenH O Thijssen
Nov 1, 1996·Clinical Neurology and Neurosurgery·Q H LeytenH J ter Laak
Sep 1, 1995·Pediatric Neurology·E ParanoW B Dobyns
Jan 1, 1992·Neuromuscular Disorders : NMD·I MahjnehG P Marconi

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