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

Medicine (Baltimore). 2017 Mar;96(10):e6192. doi: 10.1097/MD.0000000000006192.

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.

Publication types

  • Case Reports

MeSH terms

  • Alstrom Syndrome / genetics*
  • Cell Cycle Proteins
  • Child
  • DNA Mutational Analysis
  • Diabetes Mellitus / etiology
  • Female
  • Humans
  • Proteins / genetics*

Substances

  • ALMS1 protein, human
  • Cell Cycle Proteins
  • Proteins