825: A Rare Case of Bromide Toxicity in a Patient With Refractory Epilepsy
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چکیده
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A 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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Introduction Biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. We report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. With a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. Rapid treatment was life-savin...
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Eosinophilic cholecystitis is a rare inflammatory condition encountered in surgical cholecystectomy specimens. In terms of histopathology, it is defined by transmural infiltration of eosinophils composing more than 90% of leukocytes. We here report a case of 19-year-old male admitted with thalassemia intermedia and with severe left upper quadrant pain. The patient underwent open splenectomy and...
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Infants of diabetic mothers are significantly at higher risk for major congenital malformations, with cardiovascular anomalies that is the most frequent. In this study, we presented a rare case of dextrocardia and situs inversus totalis (mirror-image dextrocardia) with multiple congenital heart anomalies who was born from a diabetic mother.
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ژورنال
عنوان ژورنال: Critical Care Medicine
سال: 2020
ISSN: 0090-3493
DOI: 10.1097/01.ccm.0000729188.97470.6e