Congenital Vitamin C Deficiency or Fractures Due to Non-Accidental Injury?

Abstract

It has long been recognised that much of the symptomatology associated with severe vitamin C deficiency in adults and children can be related to the essential role of ascorbic acid in collagen formation. The fractures and the bleeding disorders including bruises, sub-periosteal bleeding and intracranial bleeding can all be explained in this way.

This paper reports an infant boy who at the age of nine weeks was found to have multiple fractures and fracture-like lesions. A confident diagnosis of non-accidental injury was made. However it was later revealed that throughout her pregnancy the mother had prolonged severe nausea and a very limited diet. She had developed sore limbs, swollen bleeding gums and, later, multiple bruises. A diagnosis of severe scurvy was eventually made when the infant was 13 weeks old. She responded to vitamin C supplements.

The paediatricians did not recognise any relevance of the mother’s overt scurvy to the infant’s fractures. It is likely that the mother suffered severe vitamin C deficiency during her pregnancy, adversely affecting fetal bone formation and leading to fractures. Scurvy is now seldom diagnosed but surveys indicate that vitamin C sub nutrition is not uncommon even in western countries. The laboratory investigation of vitamin C status is demanding and not widely available. This paper highlights the need for maternal vitamin C deficiency to be considered in the differential diagnosis of unexplained fractures in infants.