Misbah Iffath, Ravula Pranathi, Raja Sam, Mohanakrishnan Arunkumar, Natarajan Paarthipan, Gunasekaran Dhivya
Radiodiagnosis, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Chennai, IND.
Cureus. 2024 Sep 1;16(9):e68415. doi: 10.7759/cureus.68415. eCollection 2024 Sep.
Spinal dysraphism is a spectrum of congenital anomalies caused by incomplete neural tube closure during early development, leading to spine and spinal cord defects. These can be broadly categorized into anomalies of gastrulation (including disorders of notochord formation and integration), anomalies of primary neurulation (such as premature disjunction and nondisjunction), combined anomalies of gastrulation and primary neurulation, and anomalies of secondary neurulation. This case report focuses on a 15-year-old male patient who exhibits a range of congenital spinal anomalies of spinal dysraphism spectrum, each contributing to a complex clinical picture. The primary aim of this report is to highlight the critical role of multimodal imaging in the evaluation of such conditions. Detailed imaging studies, particularly magnetic resonance imaging (MRI), are indispensable in accurately diagnosing, guiding surgical planning, and managing the diverse anomalies associated with spinal dysraphism. In this case, imaging findings were pivotal in identifying multiple congenital abnormalities, including scoliosis, butterfly vertebrae, block vertebrae, spina bifida occulta, and diastematomyelia. These conditions pose significant diagnostic and management challenges due to their varied presentations and complications.
脊柱裂是一组先天性异常疾病，由早期发育过程中神经管闭合不全引起，导致脊柱和脊髓缺陷。这些异常可大致分为原肠胚形成异常（包括脊索形成和整合障碍）、原发性神经管形成异常（如过早分离和不分离）、原肠胚形成和原发性神经管形成联合异常以及继发性神经管形成异常。本病例报告聚焦于一名15岁男性患者，他表现出一系列脊柱裂谱系的先天性脊柱异常，每种异常都导致了复杂的临床表现。本报告的主要目的是强调多模态成像在评估此类病症中的关键作用。详细的影像学检查，尤其是磁共振成像（MRI），对于准确诊断、指导手术规划以及管理与脊柱裂相关的各种异常至关重要。在本病例中，影像学检查结果对于识别多种先天性异常至关重要，包括脊柱侧弯、蝴蝶椎、融合椎、隐性脊柱裂和脊髓纵裂。由于这些病症表现多样且并发症复杂，给诊断和治疗带来了重大挑战。
