Journal List > J Korean Endocr Soc > v.22(6) > 1003402

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Rhee, Moon, Chon, Jeong, Oh, Ahn, Chung, Woo, Kim, Kim, and Kim: A Case of Type I Osteogenesis Imperfecta Differentially Diagnosed as a Cause of a Spinal Compression Fracture
Case Report
Journal of Korean Endocrine Society

Journal of Korean Endocrine Society 2007; 22(6): 446-452.

Published online: 20 December 2007

DOI: https://doi.org/10.3803/jkes.2007.22.6.446

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

Sang Youl Rhee1, 2, Soo-Young Moon1, Suk Chon1, 2, In Kyung Jeong1, 2, Seungjoon Oh1, 2, Kyu Jeung Ahn1, 2, Ho Yeon Chung1, 2, Jeong-taek Woo1, 2, Sung Woon Kim1, 2, Young Seol Kim1, 2, Jin-Woo Kim1, 2

1Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Korea.

2Research Institute of Endocrinology, Kyung Hee University School of Medicine, Korea.

Received 11 July 2007       Accepted 21 August 2007

Copyright © 2007 Korean Endocrine Society

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.

Keywords: alendronate, bone mineral density, osteogenesis imperfecta, pamidronate

Figures and Tables

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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Table 1
Laboratory findings of the patient
jkes-22-446-i001

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