Alstrom syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.
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ABSTRACT:
SUBMITTER: Bakar AA
PROVIDER: S-EPMC5348158 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
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Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.
Bakar Ayman A AA Kamal Naglaa Mohamed NM Alsaedi Abdulaziz A Turkistani Reem R Aldosari Dima D
Medicine 20170301 10
<h4>Rationale</h4>Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others.<h4>Patient concern</h4>A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness.<h4>Diagnosis</h4>Alström syndrome.<h4>Interventions</h4>Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome.<h4>Outcomes</h4>The pati ...[more]
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