ALSTROM SYNDROME WITH ACANTHOSIS NIGRICANS: A CASE REPORT AND LITERATURE REVIEW


Akdeniz N. , Bilgili S. G. , Aktar S., Yuca S., Calka O., Kılıç A. R. , ...More

GENETIC COUNSELING, vol.22, no.4, pp.393-400, 2011 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 22 Issue: 4
  • Publication Date: 2011
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.393-400

Abstract

Alstrom syndrome with acanthosis nigricans: a case report and literature review: Alstrom syndrome (AS) is a very rare autosomal recessively inherited disorder that can lead to infantile-onset dilated cardiomyopathy, blindness, hearing impairment, obesity, diabetes, hepatic and renal dysfunction. AS is caused by mutations in the ALMS I gene, which is located at chromosome 2p13. The life span of patients with AS rarely goes beyond an age of 40 years. There is no specific therapy for AS, but early diagnosis and intervention may moderate the progression of the disease and may improve the length and quality of the patient's life. We report a 10 year-old boy presenting with Alstrom Syndrome and acanthosis nigricans.