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Intracranial hypertension in two cases of craniometaphyseal dysplasia: differing surgical options

Mónica Rivero-Garvía1, F Javier Márquez-Rivas, Antonia García-Iglesias

  • 1Pediatric Neurosurgical Unit, Department of Neurosurgery, Hospital Universitario Virgen del Rocío, Seville, Spain. monicargarvia@msn.com

Neurosurgical Focus
|August 3, 2011
PubMed

Insights

Craniometaphyseal dysplasia (CMD) is a rare bone disorder. This study details two pediatric cases with CMD and intracranial hypertension, highlighting varied treatments based on neuroimaging findings.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder affecting bone development.
  • CMD is characterized by abnormal long bone metaphyses and craniofacial bone sclerosis.
  • Chronic intracranial hypertension is a potential complication in pediatric CMD.

Observation:

  • Two pediatric cases of CMD with chronic intracranial hypertension were analyzed.
  • Genetic analysis revealed a deletion in exon 9 of the human ANK gene (ANKH) in both patients.
  • Neuroimaging identified ventriculomegaly in one patient and Chiari malformation Type I in the other.

Findings:

  • Treatment strategies varied based on individual neuroimaging results.
  • One patient received CSF shunting for ventriculomegaly without Chiari malformation.
  • The other patient underwent cranial expansion and decompressive craniotomy for Chiari malformation Type I.

Implications:

  • Intracranial hypertension in CMD is multifactorial.
  • Accurate diagnosis requires intracranial pressure monitoring and thorough neuroimaging review.
  • Tailored treatment approaches are crucial for managing CMD-associated intracranial hypertension.

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