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Medical Science Monitor Basic Research


Balancing Medical and Non-Accidental Causes of Multiple Fractures in a Child with Progressive Familial Intrahepatic Cholestasis

Challenging differential diagnosis, Rare disease

Hisham Abdelrhim, Sami Khan, Paul Heaton, Rajeev Peeka

United Kingdom Department of Paediatrics, Royal Glamorgan Hospital, Cwm Taf University Health Board, Llantrisant, Rhondda Cynon Taf, United Kingdom

Am J Case Rep 2017; 18:1190-1193

DOI: 10.12659/AJCR.905807

Available online:

Published: 2017-11-09


BACKGROUND: All medical practitioners must be vigilant for child abuse and neglect (CAN) so that opportunities to intervene, prevent, and improve outcomes are not missed. However, child abuse is often overlooked in practice, and no sign or pattern of presentation of fractures is absolutely specific for child abuse.
CASE REPORT: Here, we present the case of a 22-month-old girl with progressive familial intrahepatic cholestasis (PFIC) type 2 who presented with “red flag” fractures indicative of child abuse. Biochemistry showed vitamin D deficiency and a skeletal survey revealed rickets and multiple pathological fractures. However, her age, number of differently-aged fractures and their circumstances, and differential diagnosis of CAN prompted adherence to joint Royal College of Radiologists and Royal College of Paediatrics and Child Health guidelines for non-accidental injury.
CONCLUSIONS: This case highlights some important considerations in management of suspected CAN in the context of the pathophysiology of a rare hereditary disorder that can result in pathological fractures.

Keywords: Child Abuse, End stage liver disease, Fractures, Bone