Bar-On E, Floman Y, Sagiv S, Katz K, Pollak R D, Maayan C
Hadassah Medical Center, Jerusalem, Israel.
J Bone Joint Surg Am. 2000 Nov;82(11):1563-70.
Familial dysautonomia is a hereditary multisystemic disease primarily affecting people of Ashkenazi Jewish descent. Musculoskeletal problems are related to gait disorders, spinal deformities, foot deformities, fractures, and arthropathies.
The charts and radiographs of 136 patients who ranged in age from three months to forty-six years (mean, sixteen years) were reviewed. Sixty-four patients were available for follow-up examination.
Spinal deformity was the most common orthopaedic problem and was diagnosed in seventy-eight patients starting at the age of four years, with a prevalence of 86 percent (forty-eight of fifty-six) by the age of fifteen years. Forty-one (53 percent) of the seventy-eight patients had scoliosis only, thirty-four (44 percent) had kyphoscoliosis, and three (4 percent) had kyphosis only. Bracing was accompanied by emotional, pulmonary, and skin problems, leading to a high rate of noncompliance and progression of the curve. Twenty-four patients had an operation at a mean age of thirteen years (range, five to eighteen years): twenty patients had posterior spinal arthrodesis, and four had combined anterior and posterior arthrodesis. Fifteen patients had a total of nineteen complications, of which seven were systemic and twelve were related to the spinal fixation. Eight patients had revision surgery. At the time of the surgery, scoliosis was corrected from a mean of 55 degrees to a mean of 35 degrees and kyphosis was corrected from a mean of 69 degrees to a mean of 61 degrees. After a mean duration of follow-up of sixty-five months, scoliosis measured 49 degrees (range, 18 to 62 degrees) and kyphosis measured 67 degrees (range, 30 to 115 degrees). Postoperative progression of the deformity was caused by failure of the instrumentation or progression in unfused segments. Walking was delayed in 72 percent (ninety-four) of the 130 patients who were of walking age. All sixty-four of the patients who were examined had an ataxic gait. Foot deformities were found in sixteen patients, six of whom were treated surgically. Two patients had Charcot joints. Fifty-five patients sustained at least one fracture before skeletal maturity, with a mean of 1.5 fractures per patient. All but one of the fractures was treated nonoperatively, and fracture-healing was often accompanied by profuse callus formation.
Spinal deformity is common in patients with familial dysautonomia. Bracing is of questionable benefit, and surgical intervention should be considered once curve progression is well documented. Arthrodesis should be extended as far proximally as possible to prevent junctional kyphosis. Swelling and warmth in a limb should raise suspicion of an undiagnosed fracture.
家族性自主神经功能异常是一种遗传性多系统疾病，主要影响阿什肯纳兹犹太裔人群。肌肉骨骼问题与步态障碍、脊柱畸形、足部畸形、骨折和关节病有关。
回顾了136例年龄从3个月至46岁（平均16岁）患者的病历和X光片。64例患者接受了随访检查。
脊柱畸形是最常见的骨科问题，78例患者在4岁时被诊断出，到15岁时患病率为86%（56例中的48例）。78例患者中，41例（53%）仅有脊柱侧凸，34例（44%）有脊柱后凸侧凸，3例（4%）仅有脊柱后凸。支具治疗伴有情绪、肺部和皮肤问题，导致不依从率高和侧弯进展。24例患者平均在13岁（范围5至18岁）接受了手术：20例患者进行了后路脊柱融合术，4例进行了前后路联合融合术。15例患者共出现19种并发症，其中7种为全身性并发症，12种与脊柱固定有关。8例患者接受了翻修手术。手术时，脊柱侧凸平均从55度矫正至35度，脊柱后凸平均从69度矫正至61度。平均随访65个月后，脊柱侧凸为49度（范围18至62度），脊柱后凸为67度（范围30至115度）。畸形的术后进展是由内固定失败或未融合节段的进展引起的。在130例达到行走年龄的患者中，72%（94例）行走延迟。接受检查的所有64例患者均有共济失调步态。16例患者发现足部畸形，其中6例接受了手术治疗。2例患者有夏科关节。55例患者在骨骼成熟前至少发生1次骨折，平均每位患者1.5次骨折。除1例骨折外，所有骨折均采用非手术治疗，骨折愈合常伴有大量骨痂形成。
脊柱畸形在家族性自主神经功能异常患者中很常见。支具治疗的益处存疑，一旦侧弯进展得到充分记录，应考虑手术干预。融合术应尽可能向近端延伸以预防交界性后凸。肢体肿胀和发热应怀疑有未诊断出的骨折。
