Alström Syndrome with Portal Hypertension

Ameya S Joshi; Ashok R Mohite; Premlata K Varthakavi; Pravin M Rathi

Alström Syndrome with Portal Hypertension

J Assoc Physicians India. 2016 Oct;64(10):92-93.

Authors

Ameya S Joshi¹, Ashok R Mohite², Premlata K Varthakavi³, Pravin M Rathi⁴

Affiliations

¹ Lecturer, Department of Endocrinology.
² Senior Resident, Department of Gastroenterology.
³ Professor and Head of the Department, Department of Endocrinology.
⁴ Professor and Head of the Department, Department of Gastroenterology, Topiwala National Medical College and BYL Nair Ch Hospital, Mumbai, Maharashtra.

PMID: 27766814

Abstract

Alstrom syndrome is an autosomal recessive multisystem disorder caused by mutation in ALMS1 (2p13). Very few cases of same are reported so far of same. We report a case of Alstrom syndrome (AS) who presented with type II diabetes mellitus and portal hypertension. Unilateral anorchia with hypergonadotropic hypogonadism is another unique feature of our case.

Publication types

Case Reports

MeSH terms

Adolescent
Alstrom Syndrome / complications*
Humans
Hypertension, Portal / complications*
Male