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

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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.


Alström syndrome.


Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome.


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.


the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alström syndrome.

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