Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome

Madhura Bharat Karguppikar; Nikhil Shah; Vaman Khadilkar; Anuradha Khadilkar

doi:10.1136/bcr-2021-242349

Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome

BMJ Case Rep. 2021 Aug 19;14(8):e242349. doi: 10.1136/bcr-2021-242349.

Authors

Madhura Bharat Karguppikar¹, Nikhil Shah¹, Vaman Khadilkar^{1

2}, Anuradha Khadilkar^{3

2}

Affiliations

¹ Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India.
² Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, Maharashtra, India.
³ Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India [email protected].

Abstract

We present a 7-year-old girl with Rubinstein-Taybi syndrome (RTS) and slipped capital femoral epiphysis (SCFE). She underwent bilateral arthroscopy with implant fixation for the SCFE and the symptoms resolved. This was followed by fracture of the femur after minor trauma. Dual energy X-ray absorptiometry (DXA) scan done to evaluate her bone health revealed a low bone mineral density (BMD). Our case highlights the finding of low BMD on DXA and rare association of SCFE in a child with RTS. The conundrum in this case is whether this child can be labelled to have osteoporosis as defined by the criteria given by the International Society for Clinical Densitometry guidelines.

Keywords: calcium and bone; congenital disorders.

Publication types

Case Reports

MeSH terms

Absorptiometry, Photon
Bone Diseases, Metabolic*
Child
Female
Humans
Osteoporosis* / complications
Osteoporosis* / diagnostic imaging
Rubinstein-Taybi Syndrome*
Slipped Capital Femoral Epiphyses* / diagnostic imaging
Slipped Capital Femoral Epiphyses* / surgery