Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation

Intractable diarrhoea of infancy (IDI) can often become life threatening and still poses a major diagnostic challenge. It embraces a diverse group of disorders1 and in a significant number of infants the underlying cause cannot be identified. We describe a child who presented with IDI where routine investigations were unhelpful, but more detailed tests of neutrophil function revealed a congenital defect of neutrophil specific granule formation. A three week old baby girl of Pakistani origin of non-consanguineous parents living in the UK was referred because of pyrexia of unknown origin, as well as vomiting and severe watery diarrhoea associated with failure to thrive. Rhodococcus equi isolated after repeated blood culture responded to treatment with teicoplanin and Co-trimoxazole. The umbilical cord finally separated at five weeks of age. No pathogens were isolated from repeated stool cultures. …