Congenital indifference to pain mistaken for non-accidental injury

Abstract

Congenital indifference to pain is a rare autosomal recessive inherited condition with cutaneous and skeletal lesions that mimic non-accidental injury(NAI). We present this case to illustrate the difficulty in differentiatingthe two conditions in early childhood and to demonstrate discriminatory features in the older child. The affected boy, born in the UK to Pakistani parents, first came to medical attention aged 6 months. (He had escaped the obstetric profession having been delivered by his father in the family car in the hospital car park!) When admitted to investigate recurrent chest infections, he was noted to have burns on his left hand. His parents explained that he had touched anelectric heater while crawling. He was underweight, but his parents claimedthat he was a poor feeder. Over a 6 month period there were several furtheradmissions with chest infections, mainly affecting the right upper lobe. Nounderlying cause was found. The pneumonias resolved and were retrospectively attributed to episodes of aspiration. A further unexplained feature was recurrent oral and labial ulceration including one deep lesion on the tongue. At 18 months of age he was taken to the Accident Department by his parents who had noticed a boggy mass over his occiput. An occipital fracture was present (Fig. 1). No explana-tion was offered by his parents. Further suspicion of nonaccidental injury (NAI) was raised by burns on the fingers of the right hand, deep cuts to both index fingers and a number of bruises about the trunk and limbs (Fig. 2). One revealing note by the admitting physician was his father's comment that the child was always running into things but never cried. This admission was following by a case conference under the Child Abuse Procedures at which close supervision by his GP and community services were urged.