Galactosemia case presentation

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Galactosemia case presentation

  1. 1. INFANT WITHACUTE LIVER FAILURE
  2. 2. 1.5 months, male, born of non consanguineousmarriage, 1st by birth order, birth weight 2.9kg,with h/o:•Yellowish discoloration of eyes and skin since3days•Abdominal distension with increased frequencyof stools since 2days•Fever since 1day
  3. 3. ON ENQUIRY: Child apparently alright 3 days back when he developed;• Yellowish discoloration of skin and eyes with high colored urine• No clay colored stools.• Abdominal distension progressively increasing leading to respiratory distress.• Stool frequency 9-12 episodes of green stools/day
  4. 4. • One episode of malena.• H/o fever, low to moderate grade for one day• No h/o prolonged neonatal jaundice,• No h/o seizures,• No h/o refusal to feed or decreased urinary output. Birth h/o: Uneventful Development h/o : Normal Family & Past history: Not significant
  5. 5. GENERAL EXAMINATIONDrowsy, afebrile;HR=124/min, pulses well felt;RR=58/min, subcostal retractions+;SPO2=98 on room airBP= 74/46 mmHg, HGT -30 mg/dlAnthropometry: Weight -4.2 kg,10th centile, Length -52cms, 5th centile.Icterus+++,Pallor+,No dysmorphic features.No cataracts.No skin changes.
  6. 6. SYSTEMIC EXAMINATIONP/A:• Distended, dilated abdominal veins, umbilical hernia+,• Liver 2cm, span 8 cm, firm, sharp margins, nontender.• Spleen 3 cm,firm.• Fluid thrill +RS: Air entry b/l equalCVS: S1S2 normal.CNS : Drowsy, tone, reflexes normal.
  7. 7. IMPRESSION Hyperacute liver failure unlikely due to infection alone; D/D:• In born error of metabolism precipitated by an infection.• TORCH Infection – but no h/o antenatal illness or prematurity or IUGR, Normal at birth, until 3 days before admission
  8. 8. INITIAL MANAGEMENT• O2 by hood• I.V Fluids to maintain Euglycemia• Blood Cultures collected• 1st dose antibiotics given• Inj Vit K i.v
  9. 9. Day1 Day 2 Day 3 Day 4 Day 5 Day 6Hb(g/dL) 6.8 5.5 7.6 5.1 7.3 7.0TLC(/cumm 22,200 26,500 14,800 3,600 6,500 5,900)Plt(/cumm) 2.4L 2.18 L 1.3 L 40,000 38,000 25,000s.Bili 38/14 32/23 24/6.1 23/4.5 17.2/5.7 17.6/3.6T/D(mg/dl)SGOT(IU/L) 306 218 170 94 91 105SGPT(IU/L) 94 144 100 44 42 40s.Alb(g/dl) 3.2 2.4 2.6 2.7PT/PTT 78.7/>2 mins 52.5/>2minsRBS 30 131 28 142 60 62ABG 7.46/13.5/18. 7.5/(pH/Hco3/ 6 14.5/pCO2) Met Acidosis 18.1 +Resp AlkNH3 108 188 134(micromol/l)LDH(IU/L) 2263U.Red subs Trace 2+ 3+
  10. 10. FURTHER MANAGEMENT For Fulminant hepatic failure Started i.v NAC, i.v L-ornithine, L-aspartate, GDR(glucose delivery rate) increased, PRBC Transfusion, FFP Transfusion. Sensorium deteriorated with worsening LFTs, Hypoglycemia inspite of increasing GDR. Shifted to IPCU
  11. 11. Day1 Day 2 Day 3 Day 4 Day 5 Day 6Hb(g/dL) 6.8 5.5 7.6 5.1 7.3 7.0TLC(/cumm 22,200 26,500 14,800 3,600 6,500 5,900)Plt(/cumm) 2.4L 2.18 L 1.3 L 40,000 38,000 25,000s.Bili 38/14 32/23 24/6.1 23/4.5 17.2/5.7 17.6/3.6T/D(mg/dl)SGOT(IU/L) 306 218 170 94 91 105SGPT(IU/L) 94 144 100 44 42 40s.Alb(g/dl) 3.2 2.4 2.6 2.7PT/PTT 78.7/>2 mins 52.5/>2minsRBS 30 131 28 142 60 62ABG 7.46/13.5/18. 7.5/(pH/Hco3/ 6 14.5/pCO2) Met Acidosis 18.1 +Resp AlkNH3 108 188 134(micromol/l)LDH(IU/L) 2263U.Red subs Trace 2+ 3+
  12. 12. INVESTIGATIONS FORETIOLOGICAL DIAGNOSIS•SEPSIS CRP Negative,Blood Culturesnegative.•TORCH Titres  Negative•HLH(Hemophagocytic LymphoHistiocytosis )normal ferritin, bone marrow- nohemophagocytes.
  13. 13. Ctd.. • IEM: TYROSINEMIA  AFP 400ng/ml (normal) GALACTOSEMIA  Urine Thin Layer Chromatography galactose+, Total Galactose High, GALT Enzyme level Low.
  14. 14. On 9th day—Child developed increasing respiratory distress, Persistent hypoglycemia on GDR of 14, Intubated & ventilated.. Child succumbed to his disease.
  15. 15. CONCLUSION1.5 mnths old infant with• Hyperacute liver failure• Direct hyperbilirubinemia• Persistent hypoglycemia inspite of high GDR.• Metabolic Acidosis• Urine Thin Layer Chromatography - Galactose+,• Total Galactose High,• GALT Enzyme level Low.• Diagnosed as GALACTOSEMIA

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