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One year old with persistent coagulaopathy
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  • 1. One year old with persistent coagulopathy Presenter : Upender Shava - SGPGI, Lucknow Moderator: Malathi Sathiyasekaran – Pediatric Gastroenterologist, Kanchi K C Trust Hospital, Chennai Panelists: Priya Kishnani – Pediatrician & Geneticist, Duke University, USA Vishnu Biradar – Pediatric Gastroenterologist, Dinanath Mangeshikar Hospital, Pune Mamta Muranjan – Pediatrician & Geneticist, KEM hospital, Mumbai
  • 2. One year old with persistent coagulopathy Dr. Upender Shava DM Senior Resident Dept of Pediatric Gastroenterology SGPGIMS, Lucknow
  • 3. 1 year old boy Resident of Kolkata Admitted ?CMPA ?? IBD No jaundice No encephalopathy Dysentery with sepsis & DIC No bleeds No oliguria Referred to SGPGI Ascites for persistent Coagulopathy Pedal edema Hypoalbuminemia Antibiotics,Vit No proteinuria K Coagulopathy Multiple FFP transfusions Mild transaminitis Bloody diarrhea (5 days) Fever 0 Sigmoidoscopy: erythema, loss of vascular pattern 5 10 15 20 25 days
  • 4. Issues and considerations • • • • • • • Ascites Hypoalbuminemia Liver disease Persistent coagulopathy No jaundice Previously healthy 1 year old boy Developmentally normal child No h/o sib death/family history of liver disease
  • 5. Examination • • • • • • Weight - 8.5 kg (3rd centile) Length - 73 cm (25th centile) Mild pallor present No icterus/clubbing/lymphadenopathy No f/o rickets Per abdomen: – Liver 5cm BCM, firm ,sharp margin – Spleen-3cm BCM, – No ascites • Other systems - NAD
  • 6. Chronic liver disease with portal hypertension and decompensation (persistent coagulopathy) at 1 year of age
  • 7. What are the possibilities?
  • 8. Basic investigations LFT 5/4/13 12/4/13 17/4/13 Hemogram 12/4/13 17/4/13 Total Bilirubin 1 1.6 1 Hb 10 8.3(NCNC) Direct bilirubin 0.4 0.5 0.4 TLC 10,100 10,900 ALT 50 35 25 Platelets 36,000 39,000 AST 170 176 163 ALP - 270 498 GGT 202 149 122 Total protein - 8.5 - Albumin 2.9 3.3 3.4 INR 4.8 6.1 5.6 PT(sec) 43.1 51.9 49.2 Blood cultures- sterile USG abdomen: ▪Hepatosplenomegaly ▪Nephromegaly ▪No ascites
  • 9. Specific investigations • • • • • • UGI Endoscopy- no varices Urine NGRS - negative Eye examination – normal ABG,Lactate, Blood sugars-normal Autoimmune markers – negative GAL-I-PUT- normal
  • 10. What would you do next?
  • 11. Diagnostic tests • Renal tubular functions- low TmP/GFR • Alpha feto-protein – very high(beyond upper limit of lab cut off i.e. >1000) • Blood TMS- high methionine • Urine GCMS- elevated succinyl acetone(40 times) • Fumaryl acetate hydrolase (FAH)- undetectable TYROSINEMIA type 1
  • 12. Take home message "Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure"