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Τρίτη 25 Ιουνίου 2019

Multiple sites acquired lipodystrophy in two siblings: a rare adverse effect of intramuscular triamcinolone
BMJ Case Reports Last 6 Issues
1h
Rare case of Bing-Neel syndrome treated successfully with ibrutinib
Waldenstrom’s macroglobulinaemia (WM) is a lymphoproliferative disorder of the B cell origin. It is characterised by the presence of IgM paraprotein in the serum and lymphoplasmacytic lymphoma cells in the bone marrow with extranodal involvement relatively uncommon. Bing-Neel syndrome (BNS) is a neurological complication of WM that results from infiltration of the central nervous system by malignant lymphoplasmacytic cells. We present an interesting case of BNS that responded remarkably to ibrutinib...
BMJ Case Reports Last 6 Issues
1h
Unusual cause of airway obstruction: subglottic oncocytic cyst
Oncocytic cysts are rare benign cystic lesions, which are usually seen in the supraglottic region. They usually present with symptoms of hoarse voice or the sensation of a lump in the throat. Management is with complete excision and follow-up to monitor for recurrence. In this unusual case, an elderly woman presenting with shortness of breath following recent treatment for pneumonia developed rapidly worsening stridor during admission. Flexible nasal endoscopy revealed a large pedunculated cystic...
BMJ Case Reports Last 6 Issues
1h
Clonidine suppression testing for pheochromocytoma in neurofibromatosis type 1
Compared with the general population, rates of pheochromocytoma are higher in neurofibromatosis type 1 (NF1) patients. However, pheochromocytoma testing is often plagued by false positive results. Here we present a patient with NF1, elevated urinary metanephrine levels, and an indeterminate adrenal nodule. Clonidine suppression testing aided diagnosis and led to definitive surgical treatment that confirmed a pheochromocytoma. Pheochromocytoma screening and clonidine suppression testing can both aid...
BMJ Case Reports Last 6 Issues
1h
Neonatal diabetes mellitus: remission induced by novel therapy
A female child with deafness was diagnosed to have neonatal diabetes mellitus at the age of 6 months, on routine evaluation prior to cochlear implant surgery. She presented to us at 11 months of age with diabetic ketoacidosis due to an intercurrent febrile illness. Her haematological parameters showed megaloblastic anaemia and thrombocytopenia. Therefore a possibility of Thiamine Responsive Megaloblastic Anaemia (TRMA) syndrome was considered. She was empirically treated with parenteral thiamine...
BMJ Case Reports Last 6 Issues
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