Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.

Abstract:

RATIONALE:Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others. PATIENT CONCERN:A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness. DIAGNOSIS:Alström syndrome. INTERVENTIONS:Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome. OUTCOMES:The patient has retinitis pigmentosa, bilateral hearing loss, double diabetes with weakly positive anti-insulin antibodies and DNA analysis showed novel mutation for Alström syndrome. LESSONS:the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alström syndrome.

journal_name

Medicine (Baltimore)

journal_title

Medicine

authors

Bakar AA,Kamal NM,Alsaedi A,Turkistani R,Aldosari D

doi

10.1097/MD.0000000000006192

subject

Has Abstract

pub_date

2017-03-01 00:00:00

pages

e6192

issue

10

eissn

0025-7974

issn

1536-5964

pii

00005792-201703100-00018

journal_volume

96

pub_type

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