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

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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.

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