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

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.

References

• ¹
  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.
• ³
  Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 2009;8:654-667.

Publication Dates

• Publication in this collection
  Feb 2014

History

• Received
  23 May 2013
• Reviewed
  16 Aug 2013
• Accepted
  23 Aug 2013