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.
. Note pes cavus, hammer toes, and peroneal atrophy, resembling features observed in Charcot-Marie-Tooth disease.
. (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 11 . Lew SM, Kothbauer KF. Tethered cord syndrome: an update review. Pediatr
Neurosurg 2007;43:236-248.
2 . 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.
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33 . Pareyson D, Marchesi C. Diagnosis, natural history, and management of
Charcot-Marie-Tooth disease. Lancet Neurol 2009;8:654-667. . The emergence of urinary symptoms is a hallmark for the diagnosis of cauda equina
syndrome instead of neuropathy.
References
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1Lew SM, Kothbauer KF. Tethered cord syndrome: an update review. Pediatr Neurosurg 2007;43:236-248.
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2Hertzler 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.
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3Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 2009;8:654-667.
Publication Dates
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Publication in this collection
Feb 2014
History
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Received
23 May 2013 -
Reviewed
16 Aug 2013 -
Accepted
23 Aug 2013