Bin Majid Ozair, Al Rushud Mohammed A, Al-Zayed Zayed, Alsager Ghadeer, Bhat Jehangir A
Department of Orthopaedic Surgery, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.
Pediatric Critical Care, Dr. Sulaiman Al-Habib Hospital, Riyadh, SAU.
Cureus. 2022 Jan 23;14(1):e21505. doi: 10.7759/cureus.21505. eCollection 2022 Jan.
Monosomy 1p36 deletion is a rare syndrome that consists of developmental delay, intellectual disability, seizures, hearing and vision defects, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, renal anomalies, and scoliosis. We report the case of an eight-year-old boy who presented to the orthopedic clinic with spinal deformity with a background of 1p36 deletion syndrome. The treatment modalities at this age include growing rods, vertical expandable prosthetic titanium rib (VEPTR), or posterior spinal fusion. Keeping in view the challenges in this case due to multi-organ involvement and severe intellectual disability, we decided to manage this patient with a VEPTR device to prevent the progression of scoliosis and allow spinal growth. Vertical expandable prosthetic titanium rib (VEPTR) instrumentation for progressive scoliosis in p36 deletion syndrome is an effective mode of treatment and leads to favorable outcomes.
1p36缺失单体综合征是一种罕见的综合征，包括发育迟缓、智力残疾、癫痫、听力和视力缺陷、脑异常、口面部裂、先天性心脏缺陷、心肌病、肾脏异常和脊柱侧弯。我们报告了一名8岁男孩的病例，他因脊柱畸形就诊于骨科诊所，其背景为1p36缺失综合征。这个年龄段的治疗方式包括生长棒、垂直可扩展人工钛肋骨（VEPTR）或后路脊柱融合术。鉴于该病例因多器官受累和严重智力残疾带来的挑战，我们决定使用VEPTR装置治疗该患者，以防止脊柱侧弯进展并允许脊柱生长。用于p36缺失综合征进展性脊柱侧弯的垂直可扩展人工钛肋骨（VEPTR）器械是一种有效的治疗方式，并能带来良好的效果。
