Is it Gaucher’s Disease or Niemann-Pick’s disease?

Lavina Desai*, Ira Shah**
* Seth G S Medical College, Mumbai, India and **Pediatric Hepatology, Levioza Health Care, Mumbai, India.

Address for Correspondence: Lavina Desai, Seth G S Medical College, India. Email: lavinadesai16@gmail.com


Clinical Problem:
A three and a half-year-old girl, currently bedridden, presented in 2013 with progressive loss of milestones from two years of age. On examination she showed poor oral hygiene, oral thrush over the hard palate, left cervical lymphadenopathy of size 2x2cm, and hepatomegaly (1cm), splenomegaly (10 cm). In 2011, she was diagnosed with Gaucher’s disease and advised regarding enzyme replacement therapy. Bone marrow examination at that time had shown foamy macrophages and a lysosomal enzyme study revealed reduced levels of beta-glucosidase (Patient: 3.7 nmol/m/hr, Control: >13 nmol/m/hr), raised plasma chitotriosidase (4274.8 nmol/m/hr) and normal levels of sphingomyelinase enzyme. She also had pancytopenia. In July 2012, a genetic test for Gaucher’s disease was negative. On presentation to us in 2013 in view of neurological involvement, a repeat beta-glucosidase levels were done which was 3 nmol/m/hr (low), chitotriosidase was 2879 nmol/m/hr and sphingomyelinase was 9.3 nmol/m/hr (normal). A further genetic test showed NPC1 gene mutation and a normal NPC2 gene suggestive of Niemann-pick type C 1 disease.

Is this Gaucher’s disease or Niemann Pick disease?