RT Journal Article SR Electronic T1 The usefulness of bone marrow aspiration in the diagnosis of Niemann–Pick disease type C in infantile liver disease JF Archives of Disease in Childhood JO Arch Dis Child FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health SP 841 OP 844 DO 10.1136/adc.2005.088013 VO 91 IS 10 A1 A F Rodrigues A1 R G Gray A1 M A Preece A1 R Brown A1 F G Hill A1 U Baumann A1 P J McKiernan YR 2006 UL http://adc.bmj.com/content/91/10/841.abstract AB Background: Niemann–Pick disease type C (NPC) is a fatal, autosomal recessive lysosomal storage disease which may present in infancy with cholestatic jaundice and/or hepatosplenomegaly. In cholestatic patients with splenomegaly, a bone marrow aspirate has been advocated as a relatively accessible tissue to demonstrate storage phenomena. Typically in patients with NPC, macrophages with abnormal cholesterol storage, so called foam cells, can be detected in the bone marrow.Aim: To review our experience of bone marrow aspiration in children with NPC presenting with infantile liver disease.Methods: A retrospective analysis of 11 consecutive children (8 males) from Birmingham Children’s Hospital with NPC presenting with infantile liver disease was undertaken. The diagnosis of NPC was confirmed in all cases by demonstrating undetectable or low rates of cholesterol esterification and positive filipin staining for free cholesterol in cultured fibroblasts.Results: The median age at presentation was 1.5 months (range 0.5–10). Bone marrow aspirates showed storage cells in only 7/11 cases. Bone marrow aspirates which had storage cells were undertaken at a median age of 11 months while those with no storage cells were undertaken at median age 2.3 months. The overall sensitivity of bone marrow aspirates for detecting storage cells in children presenting with infantile liver disease was 64%; however, for children who had bone marrow aspirates in the first year of life it was only 57%.Conclusions: The sensitivity of bone marrow aspirate for the diagnosis of NPC disease in patients presenting with infantile liver disease was lower than previously reported. Where NPC is suspected clinically, definitive investigations should be undertaken promptly. There is a need to develop sensitive screening methods for NPC in children presenting with infantile liver disease.