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Neuropediatrics 2012; 43(04): 225-228
DOI: 10.1055/s-0032-1324405
Short Communication
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

A Case of Osteogenesis Imperfecta Type II Caused by a Novel COL1A2 Gene Mutation: Endoscopic Third Ventriculostomy to Prevent Hydrocephalus

Yasuo Hachiya
1   Department of Pediatrics, Tokyo Metropolitan Fuchu Medical Center for the Disabled, Tokyo, Japan
2   Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan
,
Masaharu Hayashi
3   Department of Clinical Neuropathology, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
,
Takashi Negishi
4   Department of Ophthalmology, School of Medicine, Juntendo University, Tokyo, Japan
,
Soh Atsumi
1   Department of Pediatrics, Tokyo Metropolitan Fuchu Medical Center for the Disabled, Tokyo, Japan
,
Masaya Kubota
5   Division of Neurology, National Center for Child Health and Development, Tokyo, Japan
,
Tetsuhiro Nishihara
6   Nishihara Clinic, Tokyo, Japan
› Author Affiliations
Further Information

Publication History

04 January 2012

19 July 2012

Publication Date:
21 August 2012 (online)

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Abstract

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder caused by defects in type I collagen synthesis. OI is generally classified into four types (I to IV), and the clinical prognosis varies from a lethal outcome for type II and varying deformities for type III to a normal lifespan for the other types. We describe a female patient with biochemically confirmed OI caused by a novel mutation in the COL1A2 gene. Persistence of blue sclerae supported the diagnosis of OI type II. The case was complicated with obstructive hydrocephalus, for which endoscopic third ventriculostomy (ETV) was performed. The ETV was transiently effective for the obstructive hydrocephalus. The patient subsequently developed brain atrophy, partly through ischemic events after the ETV, which appeared to contribute to maintenance of smooth circulation of the cerebrospinal fluid. We conclude that continuous and adequate medical care including ETV can facilitate long-term survival even in lethal OI type II.

Keywords

osteogenesis imperfecta - hydrocephalus - long survival - type I collagen
 

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