Alström syndrome
نویسندگان
چکیده
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.
منابع مشابه
Protection From Clinical Peripheral Sensory Neuropathy in Alström Syndrome in Contrast to Early-Onset Type 2 Diabetes
OBJECTIVE Alström syndrome, with type 2 diabetes, and blindness could confer a high risk of foot ulceration. Clinical testing for neuropathy in Alström syndrome and matched young-onset type 2 diabetic subjects was therefore undertaken. RESEARCH DESIGN AND METHODS Fifty-eight subjects with Alström syndrome (18 insulin-resistant nondiabetic and 40 diabetic; aged 8-43 years) and 30 young-onset d...
متن کاملFull-field electroretinography and marked variability in clinical phenotype of Alström syndrome.
OBJECTIVES To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG). METHODS Three age- and sex-matched patients with Alström syndrome were selected from our retinitis pigmentosa register for repeated ophthalmologic examinations that included tests for co...
متن کاملAlström syndrome with liver cirrhosis: first case from Turkey.
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Alström syndrome is a very rare cause of liver cirrhosis. Postmortem bio...
متن کاملA Role for Alström Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence
Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of the primary cilium. ALMS1 localizes to centrosomes and ciliary basal bodies, but truncation mutations in Alms1/ALMS1 do not preclude formation of...
متن کاملDegeneration and plasticity of the optic pathway in Alström syndrome.
BACKGROUND AND PURPOSE Alström syndrome is a rare inherited ciliopathy in which early progressive cone-rod dystrophy leads to childhood blindness. We investigated functional and structural changes of the optic pathway in Alström syndrome by using MR imaging to provide insight into the underlying pathogenic mechanisms. MATERIALS AND METHODS Eleven patients with genetically proved Alström syndr...
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