title: A rare cause of facial nerve palsy in children: hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review.
abstract: 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.
authors.affiliation: Department of Neurology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Postbus 30 001, 9700 RB Groningen, The Netherlands. m.e.van.egmond@umcg.nl
authors.forename: M E
authors.initials: ME
authors.lastname: van Egmond
authors.forename: F G
authors.initials: FG
authors.lastname: Dikkers
authors.forename: A M
authors.initials: AM
authors.lastname: Boot
authors.forename: A H J M
authors.initials: AH
authors.lastname: van Lierop
authors.forename: S E
authors.initials: SE
authors.lastname: Papapoulos
authors.forename: O F
authors.initials: OF
authors.lastname: Brouwer
mesh_terms: D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D015519:Bone Density; D002648:Child; D002675:Child, Preschool; D005155:Facial Nerve Diseases / Q000209:etiology*; D005158:Facial Paralysis / Q000209:etiology*; D005260:Female; D006314:Hearing Loss, Conductive / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications*; D011241:Prednisone / Q000627:therapeutic use; D012008:Recurrence; D012886:Skull / Q000002:abnormalities; D014057:Tomography, X-Ray Computed
chemical_list: D000893:Anti-Inflammatory Agents; D011241:Prednisone