ALSTROM-SYNDROME - A CLINICAL CASE-REPORT

Citation
D. Agnello et al., ALSTROM-SYNDROME - A CLINICAL CASE-REPORT, Rivista italiana di pediatria, 21(6), 1995, pp. 885-888
Citations number
11
Categorie Soggetti
Pediatrics
ISSN journal
03925161
Volume
21
Issue
6
Year of publication
1995
Pages
885 - 888
Database
ISI
SICI code
0392-5161(1995)21:6<885:A-ACC>2.0.ZU;2-G
Abstract
The Authors report the case of a child, of unrelated parents, with Als trom syndrome, a rare disease inherited as a recessive autosomal trait , which is comprised in genetic obesity group. He showed obesity retin al pigmentary degeneration, neurosensorial deafness, hyperostosis fron talis interna, normal intelligence, hyperuricemia, hypertrigliceridemi a. Diabetes mellitus was not present probably due to the young age at diagnosis (11 years). To our knowledge, our case is the second report ol Alstrom syndrome in Italy.