Alström Syndrome with Portal Hypertension.
نویسندگان
چکیده
Alstrom syndrome is an autosomal recessive multisystem disorder caused by mutation in ALMS1 (2p13). Very few cases of same are reported so far of same. We report a case of Alstrom syndrome (AS) who presented with type II diabetes mellitus and portal hypertension. Unilateral anorchia with hypergonadotropic hypogonadism is another unique feature of our case.
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 کاملSURGICAL EXPERIENCE WITH PORTAL HYPERTENSION DUE TO HEPATOPORTAL SCLEROSIS (NONCIRRHOTIC PORTAL FIBROSIS)
Hepatoportal sclerosis or idiopathic portal hypertension has a worldwide distribution with prevalence in developing and temperate countries. Of 64 patients with this disease seen during a twelve year period, 36 underwent splenectomy or a shunt procedure. The indications for surgical intervention were severe hypersplenism and persistent left upper abdominal pain andlorhistory of frequent ep...
متن کاملAlström syndrome
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, hearin...
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 کاملReview Portal hypertensive gastropathy and gastric antral vascular ectasia (GAVE) syndrome
Portal hypertensive gastropathy (PHG) and gastric antral vascular ectasia (GAVE) syndrome are recently characterised entities that can be associated with gastrointestinal blood loss in patients with and without cirrhosis. Up to 65% of patients with portal hypertension from cirrhosis will develop PHG but it can also occur in the setting of non-cirrhotic portal hypertension. In patients with port...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 64 10 شماره
صفحات -
تاریخ انتشار 2016