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.

成骨不全症的特点是频繁骨折、骨骼畸形和其他全身症状。严重的成骨不全可能进展为脑积水；然而，这种并发症的治疗策略仍不清楚。在这里，我们描述了一名有症状的脑积水婴儿接受脑室帽状腱膜下分流术治疗后的严重成骨不全。靶向下一代测序揭示了新型复合杂合CRTAP变体，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患者脑积水的一种有效且安全的治疗方法。