Obstructive hydrocephalus treated with endoscopic third ventriculostomy in a patient with Hajdu-Cheney syndrome: case report

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  • 1 Department of Neurological Surgery, Carle BroMenn Medical Center, Bloomington, Illinois; and
  • 2 Department of Neurosurgery, Children’s Hospital Colorado, Aurora, Colorado
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Hajdu-Cheney syndrome (HCS) is a rare genetic disorder with autosomal dominant inheritance, although most cases result from de novo mutations. Progressive platybasia and basilar impression (BI) can potentiate obstructive hydrocephalus due to aqueductal stenosis. Limited literature exists on the surgical intervention for hydrocephalus in patients with this condition. The authors present (to their knowledge) the first case of obstructive hydrocephalus due to aqueductal stenosis from BI treated with an endoscopic third ventriculostomy in a patient with the complex anatomy of HCS.

ABBREVIATIONS BI = basilar impression; ETV = endoscopic third ventriculostomy; HCS = Hajdu-Cheney syndrome.

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Contributor Notes

Correspondence Ryan M. Johnson: Carle BroMenn Medical Center, Bloomington, IL. ryanjohnson19891214@gmail.com.

INCLUDE WHEN CITING Published online August 14, 2020; DOI: 10.3171/2020.5.PEDS20218.

Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

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