Dua Jasleen, Jadhav Renuka, Pande Vineeta, Bahal Mridu, Mane Shailaja V
Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, IND.
Cureus. 2024 Jul 26;16(7):e65434. doi: 10.7759/cureus.65434. eCollection 2024 Jul.
Homozygous mutations in the lipopolysaccharide-responsive vesicle trafficking, beach- and anchor-containing () gene lead to a syndrome characterized by early-onset hypogammaglobulinemia, autoimmunity, lymphoproliferation, and inflammatory bowel disease. This report describes a 10-year-old female who experienced three seizure episodes, including two generalized tonic-clonic seizures (GTCS) and one focal seizure, alongside septic shock. The patient had a history of recurrent respiratory tract infections, inflammatory bowel disease, multiple blood transfusions, lymphadenopathy, significant organomegaly, and hematological abnormalities, all consistent with an deficiency. This case highlights the critical need for prompt recognition and identification of gene mutations to enable timely management and improve patient outcomes.
脂多糖反应性囊泡运输、含海滩和锚定蛋白（）基因的纯合突变导致一种综合征，其特征为早发性低丙种球蛋白血症、自身免疫、淋巴细胞增殖和炎症性肠病。本报告描述了一名10岁女性，她经历了三次癫痫发作，包括两次全身强直阵挛发作（GTCS）和一次局灶性发作，同时伴有感染性休克。该患者有反复呼吸道感染、炎症性肠病、多次输血、淋巴结病、明显器官肿大和血液学异常的病史，所有这些都与缺陷一致。本病例强调了及时识别和鉴定基因突变为实现及时管理和改善患者预后的迫切需求。
