Eren İlker, Abay Berk, Günerbüyük Caner, Çakmak Özgür Öztop, Şar Cüneyt, Demirhan Mehmet
Koc University, School of Medicine, Department of Orthopaedics and Traumatology.
Koc University, School of Medicine.
Medicine (Baltimore). 2020 Feb;99(8):e18787. doi: 10.1097/MD.0000000000018787.
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, which is associated with facial, shoulder girdle, and paraspinal muscle atrophy. Most of the patients develop hypokyphosis and hyperlordosis in the course of the disease, to preserve standing posture. Corrective fusion is contraindicated in these patients as the surgery results with loss of compensatory hyperlordosis and leads to loss of trunk balance while standing. Although spinal fusion in neuromuscular scoliosis is a known treatment option, there are no studies in the literature on the spinal fusion of this specific patient group.
In this case report we have presented a 66-year-old woman, who was admitted with back and abdominal pain, inability to sit straight, abdominal discomfort, and numbness in the lower extremities after prolonged sitting.
The patient developed severe hyperlordosis causing intra-abdominal disorders, radicular symptoms, and sitting discomfort due to FSHD.
The patient underwent T2-S1 fusion and successful fusion was achieved.
Individualized Neuromuscular Quality of Life Questionnaire (INQoL) was used to assess preoperative and 3 years postoperative functional outcomes. All domains and total score improved at the end of the follow-up period and successful fusion was verified radiologically.
This case suggests that spinal fusion may provide functional improvement in carefully selected patient groups. Patient stratification considering spinal disability is required for further studies in this specific indication.
面肩肱型肌营养不良症（FSHD）是第三常见的肌营养不良症，与面部、肩胛带和椎旁肌萎缩有关。大多数患者在疾病过程中会出现脊柱后凸减少和腰椎前凸增加，以保持站立姿势。这些患者禁忌进行矫正融合手术，因为手术会导致代偿性腰椎前凸丧失，进而导致站立时躯干平衡丧失。虽然神经肌肉型脊柱侧弯的脊柱融合术是一种已知的治疗选择，但文献中尚无关于该特定患者群体脊柱融合术的研究。
在本病例报告中，我们介绍了一名66岁女性，她因背部和腹部疼痛、无法挺直坐姿、腹部不适以及长时间坐着后下肢麻木而入院。
患者因FSHD出现严重的腰椎前凸增加，导致腹腔内疾病、神经根症状和坐姿不适。
患者接受了T2-S1融合术，融合成功。
使用个体化神经肌肉生活质量问卷（INQoL）评估术前和术后3年的功能结果。随访结束时，所有领域和总分均有所改善，并通过影像学检查证实融合成功。
该病例表明，脊柱融合术可能会在精心挑选的患者群体中改善功能。对于该特定适应症的进一步研究，需要考虑脊柱残疾情况进行患者分层。
