Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.
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.
Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children Hospital, New Delhi, India. theshormi@yahoo.co.in
Sharmila Banerjee
SB
Mukherjee
Meenu
M
Pandey
Seema
S
Kapoor
T Padma
TP
Priya
D001854:Bone Marrow Cells / Q000473:pathology*; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D052536:Niemann-Pick Disease, Type A / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics
C543066:SMPD1 protein, human; D013108:Sphingomyelin Phosphodiesterase