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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.72 no.2 São Paulo Feb. 2014 

Images in Neurology

Tethered cord syndrome resembling Charcot-Marie-Tooth disease in closed spinal dysraphism

Síndrome da medula ancorada mimetizando doença de Charcot-Marie-Tooth no disrafismo oculto da coluna

Paulo Victor Sgobbi de Souza

José Luiz Pedroso

Wladimir Bocca Vieira de Rezende Pinto

Orlando G. P. Barsottini

Acary Souza B. Oliveira

1Department of Neurology, Universidade Federal de São Paulo, Sao Paulo SP, Brazil.

A 23-year-old man presented with progressive difficulty walking since childhood. Examination showed pes cavus, hammer toes, and peroneal atrophy ( Figure 1 ). Electroneuromyography revealed chronic denervation with an axonal pattern, and Charcot-Marie-Tooth disease was suspected. Urinary retention had started 3 years previously. Spinal cord magnetic resonance imaging (MRI) showed a lipomeningomyelocele at the lumbosacral region with spinal cord tethering ( Figure 2 ). The skin of the lumbosacral region was normal. Surgery was performed without immediate improvement.

Figure 1 . Note pes cavus, hammer toes, and peroneal atrophy, resembling features observed in Charcot-Marie-Tooth disease. 

Figure 2 . (A) Sagittal T2-weighted MRI of the spine revealed lumbosacral lipomeningomyelocele with a tethered spinal cord. (B) Sagittal T1-weighted MRI of the spine without contrast showed an expansive hyperintense lesion, typically observed in lipomas. 

Tethered cord syndrome due to occult spinal cord dysraphism is a diverse clinical entity, and cutaneous manifestations may be absent. Pes cavus and hammer toes are rare but can be present and strongly resemble Charcot-Marie-Tooth disease 1 - 3 . The emergence of urinary symptoms is a hallmark for the diagnosis of cauda equina syndrome instead of neuropathy.


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. Hertzler DA II, DePowell JJ, Stevenson CB, Mangano FT. Tethered cord syndrome: a review of the literature from embryology to adult presentation. Neurosurg Focus 2010;29:E1. [ Links ]

. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 2009;8:654-667. [ Links ]

Received: May 23, 2013; Revised: August 16, 2013; Accepted: August 23, 2013

Correspondence : José Luiz Pedroso. Rua Botucatu, 740, Vila Clementino, CEP: 04023-900 São Paulo SP, Brasil. E-mail:

Conflict of interest: There is no conflict of interest to declare.

Creative Commons License This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.