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Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes
Ayman A Bakar1, Naglaa Mohamed Kamal, Abdulaziz Alsaedi
1Pediatric Endocrinologist, Al-Hada Armed Forces Hospital, Taif, Saudi Arabia Pediatric Hepatologist Faculty of Medicine, Cairo University, Cairo, Egypt Pediatric Hepatologist Al-Hada Armed Forces Hospital Pediatric Resident, Al-Hada Armed Forces Hospital Medical intern, Taif university, Taif, Saudi Arabia.
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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