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


AKDENIZ N., Bilgili S. , AKTAR S., YUCA S., CALKA O., KILIC A. R. , ...Daha Fazla

GENETIC COUNSELING, cilt.22, ss.393-400, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 22 Konu: 4
  • Basım Tarihi: 2011
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.393-400

Özet

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.