Child abuse and osteogenesis imperfecta

How can they be still misdiagnosed? A case report

Patrizia D'Eufemia, Marta Palombaro, Valentina Lodato, Anna Zambrano, Mauro Celli, Pietro Persiani, Maria Pia De Bari, Luca Sangiorgi

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Osteogenesis imperfecta (OI) is a rare hereditary disease caused by mutations in genes coding for type I collagen, resulting in bone fragility. In literature are described forms lethal in perinatal period, forms which are moderate and slight forms where the only sign of disease is osteopenia. Child abuse is an important social and medical problem. Fractures are the second most common presentation after skin lesions and may present specific patterns. The differential diagnosis between slight-moderate forms of OI and child abuse could be very challenging especially when other signs typical of abuse are absent, since both could present with multiple fractures without reasonable explanations. We report a 20 months-old female with a history of 4 fractures occurred between the age of three and eighteen months, brought to authorities' attention as a suspected child abuse. However when she came to our department physical examination, biochemical tests, total body X-ray and a molecular analysis of DNA led the diagnosis of OI. Thus, a treatment with bisphosphonate and a physical rehabilitation process, according to Vojta method, were started with improvement in bony mineralization, gross motor skills and absence of new fracture. In conclusion our case demonstrates how in any child presenting fractures efforts should be made to consider, besides child abuse, all the other hypothesis even the rarest as OI.

Original languageEnglish
Pages (from-to)195-197
Number of pages3
JournalClinical Cases in Mineral and Bone Metabolism
Volume9
Issue number3
Publication statusPublished - Sep 2012

Fingerprint

Osteogenesis Imperfecta
Child Abuse
Diagnostic Errors
Physical Phenomena
Inborn Genetic Diseases
Motor Skills
Metabolic Bone Diseases
Social Problems
Diphosphonates
Rare Diseases
Collagen Type I
Physical Examination
Differential Diagnosis
Rehabilitation
X-Rays
Bone and Bones
Skin
Mutation
DNA
Genes

Keywords

  • Child abuse
  • Neridronate
  • Osteogenesis imperfecta
  • Physical rehabilitation

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Internal Medicine

Cite this

D'Eufemia, P., Palombaro, M., Lodato, V., Zambrano, A., Celli, M., Persiani, P., ... Sangiorgi, L. (2012). Child abuse and osteogenesis imperfecta: How can they be still misdiagnosed? A case report. Clinical Cases in Mineral and Bone Metabolism, 9(3), 195-197.

Child abuse and osteogenesis imperfecta : How can they be still misdiagnosed? A case report. / D'Eufemia, Patrizia; Palombaro, Marta; Lodato, Valentina; Zambrano, Anna; Celli, Mauro; Persiani, Pietro; De Bari, Maria Pia; Sangiorgi, Luca.

In: Clinical Cases in Mineral and Bone Metabolism, Vol. 9, No. 3, 09.2012, p. 195-197.

Research output: Contribution to journalArticle

D'Eufemia, P, Palombaro, M, Lodato, V, Zambrano, A, Celli, M, Persiani, P, De Bari, MP & Sangiorgi, L 2012, 'Child abuse and osteogenesis imperfecta: How can they be still misdiagnosed? A case report', Clinical Cases in Mineral and Bone Metabolism, vol. 9, no. 3, pp. 195-197.
D'Eufemia P, Palombaro M, Lodato V, Zambrano A, Celli M, Persiani P et al. Child abuse and osteogenesis imperfecta: How can they be still misdiagnosed? A case report. Clinical Cases in Mineral and Bone Metabolism. 2012 Sep;9(3):195-197.
D'Eufemia, Patrizia ; Palombaro, Marta ; Lodato, Valentina ; Zambrano, Anna ; Celli, Mauro ; Persiani, Pietro ; De Bari, Maria Pia ; Sangiorgi, Luca. / Child abuse and osteogenesis imperfecta : How can they be still misdiagnosed? A case report. In: Clinical Cases in Mineral and Bone Metabolism. 2012 ; Vol. 9, No. 3. pp. 195-197.
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