Department of Spine Surgery, Ganga Medical Centre and Hospital Pvt Ltd, Coimbatore, India.
Department of radiology, Ganga Medical Centre and Hospital Pvt Ltd, Coimbatore, India.
JBJS Case Connect. 2021 May 10;11(2):01709767-202106000-00061. doi: e20.00821.
We report the first case of a 21-year-old male patient with macrodystrophia lipomatosa (MDL), with local gigantism involving the thoracic spine and progressively worsening neurodeficit. Imaging studies revealed fatty infiltration and hypertrophied intercostal nerves, dextroscoliosis, osseous hypertrophy between C4 and T2, and severe canal stenosis at the T4 to T5 level secondary to lamino-facetal hypertrophy. He underwent debulking of the lesion and posterior instrumented decompression in a staged manner. His neurodeficit improved postoperatively and was ambulant without support at the end of the 2-year follow-up.
Surgery in patients with MDL is technically challenging and fraught with complications such as neurological deficit and significant blood loss.
我们报告首例 21 岁男性患者患有巨大脂肪营养不良症（MDL），局部巨肢症累及胸椎，并逐渐出现神经功能缺损恶化。影像学研究显示脂肪浸润和肥大的肋间神经、右旋脊柱侧凸、C4 到 T2 之间的骨肥大，以及 T4 到 T5 水平继发于椎板-小关节肥大的严重椎管狭窄。他分阶段接受了病变切除术和后路器械减压术。术后他的神经功能缺损得到改善，在 2 年随访结束时无需支撑即可行走。
MDL 患者的手术具有挑战性，并且存在神经功能缺损和大量失血等并发症。
