Gaucher disease type 1case presentation


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Gaucher disease type 1case presentation

  1. 1. Dr Sarfaraz R Momin Under guidance of Dr Mamta N Muranjan Genetic clinic Department of pediatricsSeth GSMC and KEM Hospital MUMBAI.
  2. 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. 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. 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. 5. SummaryProgressive upper abdominal distension due to amass most likely due to organomegaly with easyfatigability and no transfusion dependency
  6. 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. 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. 8. Systemic examinationPer 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. 9.  CVS- Heart sounds normal, no murmur RS- Air entry bilaterally equal no added sounds CNS- Normal Fundus: Normal
  10. 10. 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
  11. 11. Anemia with progressive massiveHepatosplenomegaly Storage disorders with hypersplenism • Gaucher disease or • Niemann Pick disease
  12. 12. INVESTIGATIONS Hematological • Hemoglobin : 6.5 gm/dl • WBC count : 4,000/ mm3 • Differential :P30 L64E1 M5 • Platelet count :30 x 103/ • Peripheral smear : malarial parasite absent • Malaria antigen test :negative Liver function tests : Normal USG abdomen : Hepatomegaly with gross splenomegaly Hb Electrophoresis : Normal
  13. 13. 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)
  14. 14. Diagnosis Gaucher Disease Type 1 Onset of symptoms after infancy Massive Hepatosplenomegaly Pancytopenia Absence of neurological symptoms and signs
  15. 15. TreatmentSTARTED ON ENZYME REPLACEMENT THERAPYSINCE JULY 2011(Age 6years)Dose: 25 units/kgEvery 15 days.Received 5 infusions till date
  16. 16. Follow upPeriodic measurements of Vital parameters Anthropometric parameters i.e. Height, Weight and Head circumference Liver size,span,volume Spleen size ,span,volume
  17. 17. Compelte HemogramLiver function testsRenal function testsCalcium/Phosphorous/Alkaline Phosphatase levelsChitotriosidase LevelsWatch for any complications/progress of disease
  18. 18. Thank you