Nugud Ahmed A, ELkholy Nermeen Mahmoud, Omar Awad Alkarim, Qazi Abid, Tzivinikos Christos, Chencheri Nidheesh, Khan Sabina, Ba'Ath Muhammad Eyad
Al Jalila Children's Speciality Hospital, Dubai, United Arab Emirates.
Department of Clinical Sciences, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.
Front Pediatr. 2021 Apr 27;9:634655. doi: 10.3389/fped.2021.634655. eCollection 2021.
Long QT syndactyly syndrome (long QT syndrome type 8), also known as Timothy Syndrome (TS) was first described in 1994 with still <50 case reported in the literature. The full spectrum of the syndrome is not yet known. Here we report a girl who presented with new onset refractory seizures and an undiagnosed cause of intermittent abdominal distention. She also had syndactyly of her fingers and toes and was found to have prolonged QT. Upon further investigations she was found to have a pathogenic variant in , along with Segmental Ileal Dilatation (SID), and subsequently diagnosed with Timothy syndrome. To our knowledge, the association of Timothy Syndrome with Segmental Ileal Dilatation, was not described before.
长QT并指综合征（长QT综合征8型），也称为蒂莫西综合征（TS），于1994年首次被描述，文献报道的病例仍不足50例。该综合征的全貌尚不清楚。在此，我们报告一名女童，她出现新发难治性癫痫发作且间歇性腹胀病因不明。她还患有手指和脚趾并指，且发现QT间期延长。进一步检查发现她存在致病变异，同时伴有节段性回肠扩张（SID），随后被诊断为蒂莫西综合征。据我们所知，蒂莫西综合征与节段性回肠扩张的关联此前未曾被描述过。
