Open AccessMeningomyelocele: the tip of the iceberg
Author(s) -
Sweety Shinde,
Shikha Singhal
Publication year - 2009
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.04.2009.1811
Subject(s) - polymicrogyria , medicine , neural tube defect , neural tube , presentation (obstetrics) , crying , autopsy , pediatrics , genetic counseling , brainstem , lumbosacral joint , genetic syndromes , surgery , epilepsy , pathology , embryo , genetics , psychiatry , biology , microbiology and biotechnology
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.