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for www.dnbpediatrics.com

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  • 1. GOUCHERS DISEASE CASE PRESENTATIONDEPARTMENT OF PAEDIATRICS J.L.N.H.R.C. Bhilai Dr.Sushmita Ghosh DNB final year MODERATOR Dr.Subodh Saha dnbpaediatrics.blogspot.in
  • 2. Case ScenarioAge -13 mthsSex -MAddress - Vill-Chunkatta,Selud,DurgD.O.A - 30/07/2008D.O.D - 08/08/2008 dnbpaediatrics.blogspot.in
  • 3. Chief Complaints- 1) Fever 2)Cough 10 days 3)ColdPast History-Failure to gain weight & delayed milestones sincebirthExfoliation of skin since 2-3 mths of ageCough & cold off & on since 2-3 mths of ageh/o hospitalisation twice beforeReceived BT once dnbpaediatrics.blogspot.in
  • 4. Perinatal History- Delivered at hospital in gorakhpur h/o ?aspiration pneumonia was admitted in NICU for 6 days no h/o delayed cry/bluish discolourationDevelopmental History-partial neck holding, unable to sit social smile at 1 yr recognizes mother dnbpaediatrics.blogspot.in
  • 5. Family History- no h/o consanguinity,h/o 3 spontaneous abortions in motherImmunization History- BCG given DPT 3 doses OPV 3 doses not received measlesTreatment History- On AKT since last 3 mnthsFeeding History- breast feeds since birth top feeds(cow’s milk) with katori & spoon since 3 mths of age along with breast feeds dnbpaediatrics.blogspot.in
  • 6. ExaminationGeneral Examination- -cachexic -Wt-4.125 kgs,<5th centile(age & sex),N-10.6 kgs -Lth-61 cms,<5th centile(age & sex),N-77.5 cms -OFC-39 cms,<5th centile(age & sex),N-47 cms -afebrile -HR-126/min,regular -RR-68/min,regular -mild pallor,generalised lymphadenopathy -no oedema,cyanosis,clubbing -excoriated inflamed skin over neck dnbpaediatrics.blogspot.in
  • 7. Systemic ExaminationRespiratory System- tachypnea,ICR,SCR b/l crepitationsP/A–soft,distension+ liver-firm,3 cms in rt MCL spleen-firm,sharp margins,9 cmsin Lt MCLCVS-HS regular,S1S2 heard no gallop/murmurCNS-Conscious,irritable strabismus+ moving all 4 limbs hypertonia DTR+ Plantar-B/L flexor dnbpaediatrics.blogspot.in
  • 8. Differential DiagnosisTuberculosisPEMHIV infectionIntrauterine infectionsInborn errors of metabolism -glycogen storage disorders -lipidoses -disorders of amino acid metabolism dnbpaediatrics.blogspot.in
  • 9. INVESTIGATIONSHb-10.3 gm/dl,TLC-11,000/cumm,DLC-N34,L59,E04,M02,B01PS for MP- not seenPlatelets-91,000/cummRetics-3.0%RBS-120 mg%RFT,LFT,Electrolytes,Protein,Albumin-WNLBlood C/S- SterileELISA for HIV I & II- non reactive dnbpaediatrics.blogspot.in contd.
  • 10. CXR-B/L Pneumonia (Perihilar)dnbpaediatrics.blogspot.in
  • 11. ABG- wnlCSF- wnlVDRL- non reactivePPD- negativeFNAC(Lt.cervical node)- non specific lymphadenitisHb electrophoresis- wnlFundus- normalOphthalmologic examn- BE convergent squintCoagulation profile- normal dnbpaediatrics.blogspot.in
  • 12. TORCH-Rubella IgM +ve,CMV IgG +veBERA-elevated threshold in rt ear lt ear couldn’t be tested dnbpaediatrics.blogspot.in
  • 13. Splenic aspirate- smears show largehistiocytes with eccentrically placed nuclei andabundant grainy cytoplasm suggestingGaucher’s cells dnbpaediatrics.blogspot.in
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  • 17. Bone Marrow Aspiration- normocellularmarrow, infiltrated by Gaucher’s cells dnbpaediatrics.blogspot.in
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  • 25. Gaucher’s DiseaseMost common lysosomal storage diseaseAutosomal recessiveMultisystemic lipidosisDeficient activity of lysosomal hydrolase,acidβ-glucosidaseAccumulation of undegraded glycolipidsubstrates-glucosylceramideCharacterized by hematologicproblems,organomegaly,skeletal involvement dnbpaediatrics.blogspot.in
  • 26. TYPESType I(adult/non- TypeII(infantile/ Type III(juvenile/neuronopathic) neuronopathic) Norbotten form)Onset-variable Onset-infancy Onset-childhoodBleeding/easy Increased tone Clinical featuresbruisability Strabismus in between type I &Chronic fatigue Organomegaly type IIHepatomegaly Rapid neurodege- Death by age 10-15Splenomegaly nerativecourse yrsBone pain 2 types Failure to thriveErlenmeyer flask 3a-myotonia & stridordeformity of distal dementia Death within 1st 2femur 3b-supranuclear yrs palsy dnbpaediatrics.blogspot.in
  • 27. DiagnosisHallmark of Gaucher’s disease is Gauchercell in reticuloendothelial system,particularly inbone marrow.Confirmed by determination of acid β-glucosidaseactivity in isolated leucocytesIdentification of carriers by enzymatic assayPrenatal diagnosis by determination of enzymeactivity in chorionic villi or cultured amnioticfluid cells dnbpaediatrics.blogspot.in
  • 28. Treatment-Enzyme replacement therapy with recombinantacid β glucosidase(imiglucerase) Dose-60 IU/Kg every alternate week Economic burden-Rs.2.5 Crore/annumMiglustat-synthetic analogue of D-Glucose inhibits enzyme glucosylceramide synthaseOther modalities of treatment- Bone Marrow Transplantation Splenectomy dnbpaediatrics.blogspot.in
  • 29. dnbpaediatrics.blogspot.inTHANK YOU