Clinical masks of orphan diseases: Canavan disease (OMIM 271900): scientific review and case report
نویسندگان
چکیده
منابع مشابه
Alstrom syndrome (OMIM 203800): a case report and literature review
BACKGROUND Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common m...
متن کاملChronic Granulomatous Disease, Case Report and Review of Literature
Chronic granulomatous disease (CGD) is a rare inherited disorder characterized by inability of phagocytes to generate oxygen radicals needed for intracellular killing of phagocytic microorganisms. We report a 2.5-year-old Iranian female with multiple liver abscesses. She was admitted in surgical ward because of abdominal pain and fever for one month duration that had no response to conventio...
متن کاملKimura’s Disease: A Case Report and Review of Literatures
Kimura’s disease (KD) is a chronic inflammatory disorder primarily seen in male Asians during the second and third decades of life. Clinically, it presents as solitary or multiple subcutaneous nodules, predominantly in the head and neck region, typically in the pre auricular region, forehead, and scalp. The etiology of Kimura disease is still unknown. This disorder should be suspected when the ...
متن کاملPrediction of Associations between OMIM Diseases and MicroRNAs by Random Walk on OMIM Disease Similarity Network
Increasing evidence has revealed that microRNAs (miRNAs) play important roles in the development and progression of human diseases. However, efforts made to uncover OMIM disease-miRNA associations are lacking and the majority of diseases in the OMIM database are not associated with any miRNA. Therefore, there is a strong incentive to develop computational methods to detect potential OMIM diseas...
متن کاملHip Joint Trevor Disease: Literature Review and a Case Report
Trevor disease or dysplasia epiphysealis hemimelica (DEH) is an extremely rare condition with incidence of about 1:1,000,000. Male to female ratio of reporting case is 3:1, and usually diagnosed between two and eight years old. It usually affects the medial portion of the joint, but lateral involvement is not uncommon. Hip-joint was affected in less than 4% of existing cases in the literature. ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: INTERNATIONAL NEUROLOGICAL JOURNAL
سال: 2017
ISSN: 2307-1419,2224-0713
DOI: 10.22141/2224-0713.5.91.2017.110856