Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow.

Mukherjee, Sharmila Banerjee; Pandey, Meenu; Kapoor, Seema; Priya, T Padma

Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow.

Files

ip2012v49n6p490.pdf (45.03 KB)

Date

2012-06

Authors

Mukherjee, Sharmila Banerjee

Pandey, Meenu

Kapoor, Seema

Priya, T Padma

Abstract

Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected.

Keywords

Bone marrow, Niemann pick disease type A, Diagnosis

Citation

Mukherjee Sharmila Banerjee, Pandey Meenu, Kapoor Seema, Priya T Padma. Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow. Indian Pediatrics. 2012 June; 49(6): 490-492.

URI

https://imsear.searo.who.int/handle/123456789/169374

Collections

Indian Pediatrics

Full item page