Department of Neurology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Postbus 30 001, 9700 RB Groningen, The Netherlands.
Eur J Paediatr Neurol. 2012 Nov;16(6):740-3. doi: 10.1016/j.ejpn.2012.03.002. Epub 2012 Mar 22.
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.
儿童面神经麻痹的鉴别诊断范围很广。我们报告了三例因广泛性皮质骨肥厚症（范布吕克病）引起的面神经麻痹的儿科病例。这种常染色体隐性疾病的特征是进行性骨过度生长，颅骨神经孔变窄导致颅神经病变。这三个新的范布吕克病病例之所以有趣，是因为其症状出现得异常早。此外，这是首例描述范布吕克病患儿双侧视盘水肿的报告。头部计算机断层扫描（CT）显示所有三个孩子的颅骨、颅底和下颌骨增厚，面神经管变窄。所有测量点的骨密度（BMD）明显增加，骨形成的生化标志物显著升高。范布吕克病的诊断得到了基因确认。这些病例的独特之处在于，它们是首批有详细记录的儿科范布吕克病病例。
