CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report
نویسندگان
چکیده
منابع مشابه
Large Multiple Sialoliths of Bilateral Submandibular Glands: A Case Report
Introduction: Sialolithiasis is a most common disease of salivary glands most commonly occurs in submandibular gland system. Simultaneous sialolithiasis in more than one salivary gland and multiple stone formations have been reported in only 5% and 3% of cases, respectively. In this article, a rare case of bilateral presence of various stones in different sizes and shapes in the submandibular ...
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Background: Henoch-Schonlein purpura is a common systemic vasculitis in childhood, usually characterized by skin, abdominal, and renal manifestations. Most patients are 4 to 7 years old and are more common in boys. The disease is very rare in adults with multiple symptoms. Case Report: A 20-year-old male patient with final diagnosis of Henoch-Schonlein disease with rare complications was admitt...
متن کاملMultiple endocrine glands insufficiency due to langerhans cell histiocytosis (LCH): a case report
LCH is the rare disease involving clonal proliferation of Langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes. The clinical presentation of LCH may occur in multiple organs: bone, skin, lymph nodes or pituitary gland, but clinical presentation of LCH rarely occurs in multiple endocrine systems. We presented a special case who was diagnose...
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A patient with adenocarcinoma of the stomach and recurrent hypoglycemia is presented. The fasting blood sugar ranged from lOm/100,ml to 35mg/100 and the serum insuline levels ranged from 24 miU/ml to 42 miu/ml. The counterregulatory hormones(growth hormone, cortisol, adrenocorticotropin hormone) levels were within normal limits. No significant hepatic involvement was observed in isotopic live...
متن کاملA New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...
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ژورنال
عنوان ژورنال: International Journal of Environmental Research and Public Health
سال: 2020
ISSN: 1660-4601
DOI: 10.3390/ijerph17124397