Đang chuẩn bị nút TẢI XUỐNG, xin hãy chờ
Tải xuống
Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report | Journal of Medical Case Reports BioMed Central Open Access Case report Seizures as the first manifestation of chromosome 22qll.2 deletion syndrome in a 40-year old man a case report Adriano RTonelli 1 Kalyan Kosuri1 Sainan Wei2 and Davoren Chick1 Address Department of Internal Medicine Michigan State University East Lansing Michigan USA and 2DNA Diagnostic and Cytogenetics Laboratories Department of Pediatrics and Human Development. Michigan State University East Lansing Michigan USA Email Adriano RTonelli - Adriano.Tonelli@medicine.ufl.edu Kalyan Kosuri - Kalyan.Kosuri@ht.msu.edu Sainan Wei - weisaina@msu.edu Davoren Chick - Davoren.Chick@hc.msu.edu Corresponding author Published 3 December 2007 Received 14 April 2007 -. Accepted 3 December 2007 Journal of Medical Case Reports 2007 1 167 doi l0.ll86 l 752-1947-1-167 This article is available from http www.jmedicalcasereports.cOm content 1 1 167 2007 Tonelli et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http creativecommons.org licenses by 2.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background The microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. It typically presents early in life and is rarely considered in adult patients. As part of the manifestations of this condition patients can have parathyroid glandular involvement ranging from hypocalcemic hypoparathyroidism to normocalcemia with normal parathryroid hormone levels. The first manifestation of the syndrome might be seizures due to profound hypocalcemia. Case presentation A 40-year-old man without significant past medical history presented with a new-onset generalized tonic-clonic seizure. He had no personal history of hypocalcemia or seizures. Physical examination was remarkable for short stature hypertelorism prominent forehead and nasal voice. His
