Viswanathan Vibhu Krishnan, Kanna Rishi Mugesh, Shetty Ajoy Prasad, Rajasekaran S
Department of Spine Surgery, Ganga Hospital, Coimbatore, Tamil Nadu, India.
Indian J Orthop. 2017 May-Jun;51(3):330-333. doi: 10.4103/0019-5413.205682.
Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously.
巴德-比德尔综合征（BBS）是一种罕见的常染色体隐性遗传性致残疾病，可表现出多种全身临床特征，包括视锥视杆营养不良、多指（趾）畸形、弗勒利希样中心性肥胖、智力发育迟缓、性腺功能减退和肾脏异常。受这种异质性疾病影响的患者会出现多种神经肌肉表现，包括共济失调、颈椎和胸椎管狭窄，表现为痉挛性四肢瘫和其他步态障碍。我们报告了一名患有BBS的年轻患者，该患者因严重的原发性腰椎管狭窄出现急性弛缓性截瘫。她立即接受了腰椎减压和椎间盘切除术，术后恢复明显。原发性腰椎管狭窄导致的急性马尾综合征此前尚未作为BBS的临床特征被报道。
