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

Patient: Female, 2 Final Diagnosis: Hepatic rickets Symptoms: Pain Medication: — Clinical Procedure: Skeletal survey Specialty: Pediatrics and Neonatology OBJECTIVE: Rare disease 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.