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"