title: Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.
abstract: BACKGROUND
  Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others.
  
  
  METHODS
  A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness.
  
  
  METHODS
  Alström syndrome.
  
  
  METHODS
  Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alström syndrome.
authors.affiliation: Pediatric 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.
authors.forename: Ayman A
authors.initials: AA
authors.lastname: Bakar
authors.forename: Naglaa Mohamed
authors.initials: NM
authors.lastname: Kamal
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: Alsaedi
authors.forename: Reem
authors.initials: R
authors.lastname: Turkistani
authors.forename: Dima
authors.initials: D
authors.lastname: Aldosari
mesh_terms: D056769:Alstrom Syndrome / Q000235:genetics*; D018797:Cell Cycle Proteins; D002648:Child; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000209:etiology; D005260:Female; D006801:Humans; D011506:Proteins / Q000235:genetics*
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins