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

Rationale: Alstrom 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: Alstrom syndrome. Interventions: Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alstrom 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 Alstrom syndrome. Lessons: the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alstrom syndrome.