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BMJ Case Reports 2009; doi:10.1136/bcr.04.2009.1811
  • Reminder of important clinical lesson

Meningomyelocele: the tip of the iceberg

  1. Sweety Shinde1,
  2. Shikha Singhal2
  1. 1
    Nair Hospital, Department of Histopathology, Nair Road, Mumbai, Maharashtra, 400008, India
  2. 2
    Royal Sussex County Hospital, Histopathology, Royal Sussex County Hospital, Eastern Road, Brighton, BNQ 5BE, UK
  1. Shikha Singhal, shikha79{at}doctors.org.uk
  • Published 19 August 2009

Summary

Meningomyelocele is one of the commonest neural tube closure defects. A 2-month-old girl presented with meningomyelocele in the lumbosacral region that had been present since birth. She had experienced paraparesis for 1 month. Terminally, she had excessive crying, and died within 1 week of presentation. An autopsy revealed focally infected meningomyelocele with features of Arnold–Chiari II malformation. Associated malformations included polymicrogyria, neuronal heterotopias and neuronal cytomegaly in the brainstem. Cortical malformations may be detected radiologically, thus prompting surgical intervention and reduced mortality. By contrast, the presence of cytomegaly may hinder postsurgical improvement, affecting intellectual outcome in survivors in particular. New genetic revelations also offer a scope for genetic counselling in these conditions.

Footnotes

  • Competing interests: None.

  • Patient consent: Patient/guardian consent was obtained for publication.

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