title: Craniovertebral junction stenosis in Lenz-Majewski syndrome.
abstract: We report a girl with Lenz-Majewski syndrome associated with craniovertebral junction stenosis that led to communicating hydrocephalus and cervical myelopathy. The life-threatening complication was related to progressive craniovertebral hyperostosis that rapidly exacerbated during early childhood. Despite initial success of surgical intervention at 2 years of age, she developed apneic spells and died suddenly at age 5 years. Close monitoring for craniovertebral junction stenosis is essential to reduce morbidity and mortality in children with Lenz-Majewski syndrome.
authors.affiliation: Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, 10-1, Okura 2-chome, Setagaya-ku, Tokyo, 157-8535, Japan, mizuguchi-k@ncchd.go.jp.
authors.forename: Koichi
authors.initials: K
authors.lastname: Mizuguchi
authors.forename: Osamu
authors.initials: O
authors.lastname: Miyazaki
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Akira
authors.initials: A
authors.lastname: Ishigro
mesh_terms: D000015:Abnormalities, Multiple; D001848:Bone Diseases, Developmental / Q000150:complications*; D002675:Child, Preschool; D003251:Constriction, Pathologic; D056424:Decompressive Craniectomy; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications*; D008607:Intellectual Disability / Q000150:complications*; D007564:Japan; D007796:Laminectomy; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D017287:Ventriculoperitoneal Shunt