J Korean Endocr Soc.  2007 Dec;22(6):446-452. 10.3803/jkes.2007.22.6.446.

A Case of Type I Osteogenesis Imperfecta Differentially Diagnosed as a Cause of a Spinal Compression Fracture

• Rhee SY
• Moon SY
• Chon S
• Jeong IK
• Oh S
• Ahn KJ
• Chung HY
• Woo JT
• Kim SW
• Kim YS
• Kim JW

• KMID: 1958910
• DOI: http://doi.org/10.3803/jkes.2007.22.6.446

Abstract

Osteogenesis imperfecta (OI) is a genetic disease that is caused by a synthetic anomaly of type I collagen. It is characterized by such features as low bone density, multiple fractures, bone deformities and chronic bone pain. According to the hereditary pattern and degree of phenotypical expression, it also has various extraskeletal manifestations such as blue sclera, hearing deformities and dentinogenesis imperfecta. Recently, an expanded seven subgroup classification of OI has been suggested by means of its clinical severity and mutational characteristics. However, most of the OI cases reported in Korea have been classified as type II or III that can be diagnosed easily and present with severe clinical manifestations. Only rare type I OI cases have been currently reported in Korea. Herein, we report a case of type I OI that was differentially diagnosed as a cause of a spinal compression fracture.

Keyword

alendronate; bone mineral density; osteogenesis imperfecta; pamidronate

MeSH Terms

Alendronate
Bone Density
Classification
Collagen Type I
Congenital Abnormalities
Dentinogenesis Imperfecta
Fractures, Bone
Fractures, Compression*
Hearing
Korea
Osteogenesis Imperfecta*
Osteogenesis*
Sclera
Alendronate
Collagen Type I

Figure

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  Fig. 1 Blue Sclera which are typical characteristic of osteogenesis imperfect were observed in the patient.

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  Fig. 2 Pedigree of the patient.

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  Fig. 3 Compression Fractures of T12 and L1 bodies with diffuse osteoporotic change were observed in Plain XR images.

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  Fig. 4 Initial bone mineral density findings of the patient.

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  Fig. 5 No special abnormal findings were observed other than compression fractures of T12 and L1 bodies in 99mTc bone scan images

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  Fig. 6 Follow-up bone mineral density findings of the patient after 1 yr of first admission.

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