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

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

• References

• 1 Sillence D. Osteogenesis imperfecta: an expanding panorama of variants. Clin Orthop Relat Res 1981; 159 (159) 11-25
• 2 Singer RB, Ogston SA, Paterson CR. Mortality in various types of osteogenesis imperfecta. J Insur Med 2001; 33 (3) 216-220
• 3 Gomez-Lira M, Sangalli A, Pignatti PF , et al. Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation. J Med Genet 1994; 31 (12) 965-968
• 4 van Dijk FS, Cobben JM, Kariminejad A , et al. Osteogenesis imperfecta: A review with clinical examples. Mol Syndromol 2011; 2 (1) 1-20
• 5 Byers PH. Disorders of collagen biosynthesis and structure. In: Scriber CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Metabolic Disease, 8th ed. New York, NY: McGraw-Hill; 2000: 5241-5285
• 6 Persikov AV, Pillitteri RJ, Amin P, Schwarze U, Byers PH, Brodsky B. Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Hum Mutat 2004; 24 (4) 330-337
• 7 Charnas LR, Marini JC. Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta. Neurology 1993; 43 (12) 2603-2608
• 8 Sawin PD, Menezes AH. Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. J Neurosurg 1997; 86 (6) 950-960
• 9 Hansen MA, da Cruz MJ, Owler BK. Endoscopic transnasal decompression for management of basilar invagination in osteogenesis imperfecta. J Neurosurg Spine 2008; 9 (4) 354-357
• 10 Takehira N, Kang Y, Kanemoto M, Nishikawa T, Waga S. Unsuccessful third ventriculostomy for occlusive hydrocephalus. Minim Invasive Neurosurg 2003; 46 (4) 240-242
• 11 Mohanty A, Vasudev MK, Sampath S, Radhesh S, Sastry Kolluri VR. Failed endoscopic third ventriculostomy in children: management options. Pediatr Neurosurg 2002; 37 (6) 304-309
• 12 Grunert P, Charalampaki P, Hopf N, Filippi R. The role of third ventriculostomy in the management of obstructive hydrocephalus. Minim Invasive Neurosurg 2003; 46 (1) 16-21