Case: Systemic illness with hepatitis Presenter: Ambreen Pandorwala Moderator: John Matthai Panelist: Sanjay Prabhu, S K Yachha, Gaurav Narula

1. Systemic illness with
hepatitis
Dr Ambreen Pandrowala, Wadia Hospital
Under guidance of
Dr Mukesh Desai
Dr Shakuntala Prabhu

2. History
20 months old female child, 2nd by birth order, BONCM from
distant suburb of Mumbai presented with –
• Fever since 1 month
• Yellowish discolouration of skin since 20 days

3. Child was apparently alright a month back when she developed
fever - intermittent, high grade, 2 -3 spikes a day, responding to
medications with child not active in inter febrile period.
Yellowish discolouration of skin 10 days later
Continuous high grade fever

4. Other symptoms…
• Associated with
gradual abdominal distension which was generalised and
progressive since 10 days
Swelling of feet since 2 days
On enquiry, excessive irritability noted, no drowsiness,
convulsions

5. Negative history
No history of –
• Joint involvement
• Bony tenderness, weight loss
• Drug intake
• Bleeding from any site
• Past h/o cardiac, liver, renal disease

6. Possibilities?

7. On examination
• Febrile
• Extremely irritable
• Tachycardia +
• Very pale
• Icteric
• Pedal edema +
• Iv prick site ecchymoses +
• Liver palpable 4 cm below costal margin, firm in consistency, smooth
margins with a span of 10 cms
• Spleen palpable 4 cm below costal margin

8. Anthropometry
Observed Expected Percentile
Weight 9.4 13.5 0 and -2 SD
Height 76 82 0 and -2SD
Head
circumference
45.5 46.5 0 and -1 SD

9. Summary
20 month old female child 2nd by birth order, BONCM with
prolonged fever with jaundice, anemia and
hepatosplenomegaly with no significant past or family history
with signs of liver cell failure – ecchymoses, pedal edema,
jaundice and extreme irritability

10. Differentials?

11. On evaluation
Cbc-
Hb 3.3 gm/dl
WBC 3600
Neutrophils 26%
ANC 936
Lymphocytes 67%
Platelets 55000
LFT-
Total bilirubin 8.6 20 mg/dl
Direct bilirubin 4.9 7 mg/dl
SGPT 4032 IU/l
SGOT 741 IU/l
Alkaline
phosphatase
270 IU/l (23-80)
GGT 240 IU/l(9-38)
Albumin 1.7 gm/dl
PT 15.8/11.8 INR 1.4
PTT 46.2/28.5

12. Possibilities?

13. Evaluated for infectious causes of
hepatic failure -
• PS MP – negative
• Malarial antigen – negative
• Dengue NS1 and Dengue IgM negative
• Hep A IgM negative
• HBsAg negative
• HCV Negative
• Hepatitis E Negative
• Blood culture no growth

14. What next?

15. Evaluation for HLH done in view of fever with pancytopenia,
splenomegaly and hepatic failure negative for infectious causes.
• Ferritin – 3779 ng/ml (7-140)
• Triglycerides - 554 mg/dl (41-313)
• Fibrinogen – 49 mg/dl (212- 443)
• Bone marrow - Hemophagocytes.
• HLH workup – perforin 2 %

16. hemophagocytes

17. Primary HLH with perforin
deficiency

18. • Child was managed as per HLH 2004 protocol with
dexamethasone, etoposide and cyclosporine.
• She was symptomatically treated for liver failure with FFP, Vit
K and NAC.
• Child expired on day 5 of admission 3 days into
chemotherapy with dexamethasone, cyclosporine and one
dose of etoposide.

19. HLH diagnostic criteria 2009
1.Molecular diagnosis of HLH or XLP
2.Or atleast 3 of the 4 –
• Fever
• Splenomegaly
• Cytopenias ( minimal 2 cell lines reduced)
• Hepatitis
3. And atleast 1 of the following –
• Hemophagocytosis
• Increased ferritin
• Increased soluble IL2R
• Absent or very decreased NK function
4. Other results supportive of HLH diagnosis –
• Hypertriglyceridemia
• Hypofibrinogemia
• Hyponatremia

20. HLH diagnostic criteria 2009
1.Molecular diagnosis of HLH or XLP
2.Or atleast 3 of the 4 –
• Fever
• Splenomegaly
• Cytopenias ( minimal 2 cell lines
reduced)
• Hepatitis
3. And atleast 1 of the following –
• Hemophagocytosis
• Increased ferritin
• Increased soluble IL2R
• Absent or very decreased NK
function
4. Other results supportive of HLH
diagnosis –
• Hypertriglyceridemia
• Hypofibrinogemia
• Hyponatremia

21. Thank you