Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet–Biedl syndrome
نویسندگان
چکیده
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.
منابع مشابه
Key Words: Apoplexy in spinal tumors, cauda equina paraganglioma, intradural extramedullary spinal tumor, intralesional hemorrhage in spinal tumors, tumors of the filum terminale
© 2016 Surgical Neurology International | Published by Wolters Kluwer Medknow Abstract Background: Cauda equina paragangliomas (CEPs) are rare spinal tumors that are mostly misdiagnosed preoperatively as ependymomas or schwannomas on magnetic resonance imaging (MRI). Clinically, they usually present with the gradual onset of back pain and radiculopathy rather than an acute cauda equina syndrome...
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