A 6-year-old male presented with progressive abdominal distension and hepatosplenomegaly since age 3. Investigations found pancytopenia, elevated chitotriosidase and reduced glucocerebrosidase enzyme levels, confirming a diagnosis of Gaucher disease type 1. He was started on enzyme replacement therapy to manage his symptoms and prevent further complications.

1. Dr Sarfaraz R Momin
Under guidance of
Dr Mamta N Muranjan
Genetic clinic
Department of pediatrics
Seth GSMC and KEM Hospital
MUMBAI.

2. History
6 year old, male, 2nd by birth order, BONCM
resident of Turbagaon
Chief complaints:
 Distension of abdomen since 3 years of age,
insidious onset, progressive, painless
 Painless abdominal mass in left upper quadrant
since 3 years of age, increasing in size
 Easy fatigability

3. No history of jaundice
No history of repeated blood transfusion
No history of prolonged fever
No history of neurological complaints
No history of loss of appetite or loss of weight

4.  Past history: Packed cell transfusion for
bleeding per rectum 3years ago
 Birth history: Insignificant
 Early development: Normal
 Family history: Death of female sibling at 5
years of age , had jaundice during that episode
but terminal events are not known

5. Summary
Progressive upper abdominal distension due to a
mass most likely due to organomegaly with easy
fatigability and no transfusion dependency

6. EXAMINATION
Vitals
Euthermic
PR 110/minute,regular
RR 32/minute
BP 110/70mm Hg
 Anthropometry
Measurement Observed Expected
Height 95cm 115cm (less than 3rd centile)
Weight 15kg 20.5kg (less than 3rd centile)
Head circumference 45cm 51.5cm(less than -2SD)

7. General Examination
 Pallor ++
 No icterus ,clubbing
 No lymphadenopathy
 No pedal edema
 No evidence of petechia or ecchymosis
 No evidence of hemolytic facies
 No signs of hepatocellular failure
 No signs of vitamin deficiencies

8. Systemic examination
Per abdomen
 Distended
 Umbilicus stretched and everted
 No visible scars, sinuses or pulsations
 Liver 12cm below right costal margin
firm, irregular sharp margins non tender span 15cm
 Spleen 23cm below left costal margin firm
splenic notch felt
 Bowel sounds heard, No free fluid
 Genitalia normal, Hernial orifices normal

9.  CVS- Heart sounds normal,
no murmur
 RS- Air entry bilaterally equal
no added sounds
 CNS- Normal
Fundus: Normal

11. To summarize
 6 year old, male with progressive massive
hepatosplenomegaly with pallor since 3 years
of age with growth less than 3 rd percentile
 No Jaundice
 Non-Transfusion dependent

12. Anemia with progressive massive
Hepatosplenomegaly
 Storage disorders with hypersplenism
• Gaucher disease or
• Niemann Pick disease

13. INVESTIGATIONS
Hematological
• Hemoglobin : 6.5 gm/dl
• WBC count : 4,000/ mm3
• Differential :P30 L64E1 M5
• Platelet count :30 x 103/cu.mm
• Peripheral smear : malarial parasite absent
• Malaria antigen test :negative
Liver function tests : Normal
USG abdomen : Hepatomegaly with gross
splenomegaly
Hb Electrophoresis : Normal

14. INVESTIGATIONS
Bone Marrow:
• Gaucher cells
Leukocyte β-glucosidase levels:
• 1.5 nmol/hour/mg protein (Normal : 4-14)
Plasma chitotriosidase levels:
• 6327 nmol/hr/ml (Normal : 8-87 nmol/hour/ml)
Spingomyleinase levels:
• 43 nmols/hr/mg (Normal : 5.8-55)

15. Diagnosis
Gaucher Disease Type 1
 Onset of symptoms after infancy
 Massive Hepatosplenomegaly
 Pancytopenia
 Absence of neurological symptoms and signs

16. Treatment
STARTED ON ENZYME REPLACEMENT THERAPY
SINCE JULY 2011
(Age 6years)
Dose: 25 units/kg
Every 15 days.
Received 5 infusions till date

17. Follow up
Periodic measurements of
 Vital parameters
 Anthropometric parameters i.e. Height, Weight
and Head circumference
 Liver size,span,volume
 Spleen size ,span,volume

18. Compelte Hemogram
Liver function tests
Renal function tests
Calcium/Phosphorous/Alkaline Phosphatase levels
Chitotriosidase Levels
Watch for any complications/progress of disease

19. Thank you