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一名12岁患者的II型骶骨发育不全:在资源匮乏地区的延迟诊断

Sacral Agenesis Type II in a 12-Year-Old Patient: A Delayed Presentation in a Low-Resource Setting.

作者信息

Ayub Muhammad, La Quang Dai, Baloch Aiman, Ahmed Sobia

机构信息

Radiology, Bolan Medical Complex Hospital, Quetta, PAK.

Surgery, The Innovative STEMagazine, College Station, USA.

出版信息

Cureus. 2025 Jun 28;17(6):e86903. doi: 10.7759/cureus.86903. eCollection 2025 Jun.

Abstract

Sacral agenesis is a rare congenital anomaly with varying severity, from partial sacral hypoplasia to complete absence of the sacrum and coccyx. Often linked to maternal diabetes, it can cause significant neuromuscular and genitourinary complications. We present a 12-year-old female patient from a low-resource setting with lifelong lower limb weakness and urinary incontinence, born to a diabetic mother and diagnosed with sacral agenesis Type II. Financial constraints limited further management. This case highlights the challenges of delayed diagnosis and treatment, underscoring the need for improved healthcare access to ensure timely intervention for congenital disorders, particularly in underserved populations.

摘要

骶骨发育不全是一种罕见的先天性异常,严重程度各异,从部分骶骨发育不全到骶骨和尾骨完全缺失。它常与母亲患糖尿病有关,可导致严重的神经肌肉和泌尿生殖系统并发症。我们报告一名来自资源匮乏地区的12岁女性患者,自幼下肢无力和尿失禁,其母亲患有糖尿病,该患者被诊断为II型骶骨发育不全。经济限制使得进一步治疗受到限制。该病例凸显了延迟诊断和治疗的挑战,强调了改善医疗服务可及性的必要性,以确保对先天性疾病及时进行干预,特别是在服务不足的人群中。

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