Nakamura Shintaro, Ibi Kyosuke, Tanaka Hiroyuki, Takami Hirokazu, Okada Keita, Takasugi Nao, Kato Motohiro, Takahashi Naoto, Inoue Takanobu
Department of Pediatrics, The University of Tokyo, Tokyo, Japan.
Department of Neurosurgery, The University of Tokyo, Tokyo, Japan.
Hum Genome Var. 2024 Mar 28;11(1):16. doi: 10.1038/s41439-024-00274-z.
Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear. Here, we describe severe osteogenesis imperfecta in an infant with symptomatic hydrocephalus treated with ventriculosubgaleal shunt placement. Targeted next-generation sequencing revealed novel compound heterozygous CRTAP variants, i.e., NM_006371.5, c.241 G > T, p.(Glu81*) and NM_006371.5, c.923-2_932del. We suggest that ventriculosubgaleal shunt placement is an effective and safe treatment for hydrocephalus in patients with severe osteogenesis imperfecta.
成骨不全症的特征是频繁骨折、骨骼畸形和其他全身症状。严重的成骨不全症可能会发展为脑积水；然而，针对这种并发症的治疗策略仍不明确。在此，我们描述了一名患有症状性脑积水的婴儿，通过脑室-帽状腱膜下分流术进行治疗的严重成骨不全症病例。靶向二代测序揭示了新的复合杂合CRTAP变异，即NM_006371.5，c.241 G > T，p.(Glu81*)和NM_006371.5，c.923-2_932del。我们认为，脑室-帽状腱膜下分流术是治疗严重成骨不全症患者脑积水的一种有效且安全的治疗方法。
