Transcript of "Gaucher disease type 1case presentation"
Dr Sarfaraz R Momin Under guidance of Dr Mamta N Muranjan Genetic clinic Department of pediatricsSeth GSMC and KEM Hospital MUMBAI.
History6 year old, male, 2nd by birth order, BONCM resident of TurbagaonChief 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
No history of jaundiceNo history of repeated blood transfusionNo history of prolonged feverNo history of neurological complaintsNo history of loss of appetite or loss of weight
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
SummaryProgressive upper abdominal distension due to amass most likely due to organomegaly with easyfatigability and no transfusion dependency
EXAMINATIONVitals 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)
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
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
CVS- Heart sounds normal, no murmur RS- Air entry bilaterally equal no added sounds CNS- Normal Fundus: Normal
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
Anemia with progressive massiveHepatosplenomegaly Storage disorders with hypersplenism • Gaucher disease or • Niemann Pick disease
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