A rare cause of facial nerve palsy in children: Hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review

M. E. van Egmond*, F. G. Dikkers, A. M. Boot, A. H. J. M. van Lierop, S. E. Papapoulos, O. F. Brouwer

*Bijbehorende auteur voor dit werk

Onderzoeksoutput: Review articlepeer review

10 Citaten (Scopus)


Differential diagnosis of facial nerve palsy in children is extensive. We report on three pediatric cases presenting with facial nerve palsy caused by hyperostosis corticalis generalisata (Van Buchem disease). This autosomal recessive disease is characterized by progressive bone overgrowth, with narrowing of the neuroforamina in the skull causing cranial neuropathies. These three new cases of Van Buchem disease are of interest because of exceptionally early presentation of symptoms. Furthermore, this is the first report describing bilateral papilledema in a child with Van Buchem disease. Head computerized tomography (CT) scan revealed thickened calvarium, skull base and mandible in all three children, with narrowed facial nerve canals. Bone mineral density (BMD) was markedly increased at all measured points and biochemical markers of bone formation were significantly elevated. Diagnosis of Van Buchem disease was genetically confirmed. The cases are unique in that these are the first well-documented pediatric cases of Van Buchem disease. (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Originele taal-2English
Pagina's (van-tot)740-743
Aantal pagina's4
TijdschriftEuropean Journal of Paediatric Neurology
Nummer van het tijdschrift6
StatusPublished - nov-2012

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