Grand Rounds

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?


Previous Grand Rounds View All

R
Right Lung Opacification – What is the diagnosis?
Ilechukwu GC, Kollannoor B, Abdulaziz M.
A previously well, 7 week old baby presented to the paediatrics accident and emergency unit with a history of cough and fast breathing of one week duration associated with reduced oral intake of <50%.....
S
Staphylococcus Aureus Infection and Internal Jugular Vein Thrombophlebitis
Shakil Shaikh, Vijay Raut, Ira Shah
Case Report: A 10 month old male child was referred in view of fever, anasarca and respiratory distress. He was treated with ceftriaxone by referring hospital for 3 days. On presentation to us, he had....
I
Infantile Hemangioendothelioma - How to treat?
Amit Dey*, Ira Shah**
A 1 months old boy presented with progressive abdominal distension since 1 month of age and breathlessness for a day. There was no jaundice or pallor. On examination, weight was 3.86 kg. His vital par....
J
Jaundice with triangular facies and pulmonary stenosis
Aditi Joshi*, Ira Shah**
A 2½ years old girl born of third degree consanguineous marriage presented with progressive abdominal distension for one and a half months along with jaundice at onset. There was no bleeding manifesta....
I
Interstitial Pneumonia and Cytomegalovirus Infection in a 2 month old Child
Ira Shah, Drishti Tolani
A 2 month old girl presented with cough and breathlessness. She was ventilated and detected to have bilateral interstitial pneumonia along with hypoglycemia. Her liver function tests were also abnorma....
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.