Goucher's Disease Case Presentation
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This document presents a case study of a 13-month-old male child diagnosed with Gaucher's disease. The child presented with fever, cough, and failure to gain weight. Examination found hepatosplenomegaly, lymphadenopathy, and excoriated skin. Investigations revealed Rubella IgM positivity, elevated bone marrow Gaucher cells, and deficient lysosomal enzyme beta-glucosidase, confirming a diagnosis of type I Gaucher's disease. Treatment involves enzyme replacement therapy with imiglucerase.
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Goucher's Disease Case Presentation
- 1. GOUCHERS DISEASE CASE PRESENTATION DEPARTMENT OF PAEDIATRICS J.L.N.H.R.C. Bhilai Dr.Sushmita Ghosh DNB final year MODERATOR Dr.Subodh Saha dnbpaediatrics.blogspot.in
- 2. Case Scenario Age -13 mths Sex -M Address - Vill-Chunkatta,Selud,Durg D.O.A - 30/07/2008 D.O.D - 08/08/2008 dnbpaediatrics.blogspot.in
- 3. Chief Complaints- 1) Fever 2)Cough 10 days 3)Cold Past History- Failure to gain weight & delayed milestones since birth Exfoliation of skin since 2-3 mths of age Cough & cold off & on since 2-3 mths of age h/o hospitalisation twice before Received 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 discolouration Developmental 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 mother Immunization History- BCG given DPT 3 doses OPV 3 doses not received measles Treatment History- On AKT since last 3 mnths Feeding 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. Examination General 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 Examination Respiratory System- tachypnea,ICR,SCR b/l crepitations P/A–soft,distension+ liver-firm,3 cms in rt MCL spleen-firm,sharp margins,9 cmsin Lt MCL CVS-HS regular,S1S2 heard no gallop/murmur CNS-Conscious,irritable strabismus+ moving all 4 limbs hypertonia DTR+ Plantar-B/L flexor dnbpaediatrics.blogspot.in
- 8. Differential Diagnosis Tuberculosis PEM HIV infection Intrauterine infections Inborn errors of metabolism -glycogen storage disorders -lipidoses -disorders of amino acid metabolism dnbpaediatrics.blogspot.in
- 9. INVESTIGATIONS Hb-10.3 gm/dl,TLC-11,000/cumm,DLC- N34,L59,E04,M02,B01 PS for MP- not seen Platelets-91,000/cumm Retics-3.0% RBS-120 mg% RFT,LFT,Electrolytes,Protein,Albumin-WNL Blood C/S- Sterile ELISA for HIV I & II- non reactive dnbpaediatrics.blogspot.in contd.
- 10. CXR-B/L Pneumonia (Perihilar) dnbpaediatrics.blogspot.in
- 11. ABG- wnl CSF- wnl VDRL- non reactive PPD- negative FNAC(Lt.cervical node)- non specific lymphadenitis Hb electrophoresis- wnl Fundus- normal Ophthalmologic examn- BE convergent squint Coagulation profile- normal dnbpaediatrics.blogspot.in
- 12. TORCH-Rubella IgM +ve,CMV IgG +ve BERA-elevated threshold in rt ear lt ear couldn’t be tested dnbpaediatrics.blogspot.in
- 13. Splenic aspirate- smears show large histiocytes with eccentrically placed nuclei and abundant grainy cytoplasm suggesting Gaucher’s cells dnbpaediatrics.blogspot.in
- 17. Bone Marrow Aspiration- normocellular marrow, infiltrated by Gaucher’s cells dnbpaediatrics.blogspot.in
- 25. Gaucher’s Disease Most common lysosomal storage disease Autosomal recessive Multisystemic lipidosis Deficient activity of lysosomal hydrolase,acid β-glucosidase Accumulation of undegraded glycolipid substrates-glucosylceramide Characterized by hematologic problems,organomegaly,skeletal involvement dnbpaediatrics.blogspot.in
- 26. TYPES Type I(adult/non- TypeII(infantile/ Type III(juvenile/ neuronopathic) neuronopathic) Norbotten form) Onset-variable Onset-infancy Onset-childhood Bleeding/easy Increased tone Clinical features bruisability 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 & stridor deformity of distal dementia Death within 1st 2 femur 3b-supranuclear yrs palsy dnbpaediatrics.blogspot.in
- 27. Diagnosis Hallmark of Gaucher’s disease is Gaucher cell in reticuloendothelial system,particularly in bone marrow. Confirmed by determination of acid β-glucosidase activity in isolated leucocytes Identification of carriers by enzymatic assay Prenatal diagnosis by determination of enzyme activity in chorionic villi or cultured amniotic fluid cells dnbpaediatrics.blogspot.in
- 28. Treatment- Enzyme replacement therapy with recombinant acid β glucosidase(imiglucerase) Dose-60 IU/Kg every alternate week Economic burden-Rs.2.5 Crore/annum Miglustat-synthetic analogue of D-Glucose inhibits enzyme glucosylceramide synthase Other modalities of treatment- Bone Marrow Transplantation Splenectomy dnbpaediatrics.blogspot.in