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.
journal_name
Medicine (Baltimore)journal_title
Medicineauthors
Bakar AA,Kamal NM,Alsaedi A,Turkistani R,Aldosari Ddoi
10.1097/MD.0000000000006192subject
Has Abstractpub_date
2017-03-01 00:00:00pages
e6192issue
10eissn
0025-7974issn
1536-5964pii
00005792-201703100-00018journal_volume
96pub_type
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