[PAGID] Neonatal thrombocytopenia, decreased NK cytotoxicity and hepatic dysfunction

[Jack Bleesing]

Seen a couple of young infants with this combination of giant cell hepatitis and AIHA (+/- Evans' syndrome).
 
Responded well (long-term remission) with rituximab, imuran and transient steroids.
 
J
 
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Jack J.H. Bleesing, M.D., Ph.D.
Associate Professor of Pediatrics
Cincinnati Children's Hospital Medical Center
Division of Bone Marrow Transplantation and Immune Deficiency
3333 Burnet Avenue, MLC 7015
Cincinnati, OH 45229
513-636-4266 (phone)
513-636-3549 (fax)



>>> "Joshi, Avni Y., M.D." <Joshi.Avni at mayo.edu> 9/24/2010 11:09 AM >>>

Hello All,
We are seeking help with an infant with multi system involvement, thrombocytopenia, anemia and hepatic dysfunction since birth.
 
This now a 2 month old Hmong baby girl who was born full term but was found to be jaundiced and thrombocytopenic within 24 hrs of birth.
She has direct hyperbilirubinemia with elevated liver enzymes.
Infectious disease w/up including CMV,EBV,toxo,HSV,syphilis,parvo,HIV, hepatitis B/C were negative.
 
Metabolic w/up is also negative with normal newborn screen, normal pyruvate, plasma amino acids, AFP and bile acid synthesis defects.
 
She received multiple platelet transfusions with negative platelet antigen incompatibility (R/O NAIT) and RBC transfusions. Her hepatic dysfunction has been severe enough with elevated INRs to need multiple FFPs.
IVIG was tried twice which resulted in significant improvement in her thrombocytopenia and anemia.
 
She was transferred to us 10 days ago with abrupt worsening of her clinical picture with fever ( the first time since birth) with S.pneumo bacteremia and polymicrobial UTI.
 
HLH was a possibility but her s-IL alpha is in the normal range.
Her liver Bx shows lymphocytic cholangitis and giant cell hepatitis with extra medullary hematopoeisis and focal hemophagocytosis.
Bone marrow Bx is essentially non diagnostic.
 
T and B lymphocyte subsets look normal with normal thymic output.Perforin and granzyme levels in her NK cells is normal.
Her NK cytotoxicity is low as is the cytotoxicity in her NKT cell compartment esp. for Gran A.
 
She has high IgA 190( normal range 7-37), high IgE 402kU/ml.
ALPS screen was negative. Peripheral smear showed some rare evidence of H J bodies.
 
Rheumatologic screen after 3 doses of 2gm/kg IVIG revealed only  a positive ANA of 7.0 ( normal </=1.0). LKM, Anti-SMA,MPO, PR3 were all negative.
 
She has massive hepatomegaly with mild splenomegaly.
 
She is currently clinical stable after her last dose of IVIG 3 days ago.
 
We would appreciate any suggestions for further w/up.
 
Thanks,
Avni
 
 
 
 
 

Avni Y Joshi, MD, MSc, FAAP 
Senior Associate Consultant 
Pediatric and Adult Allergy / Immunology 
Co-Director,Cellular & Molecular Immunology Laboratory
Pager: 507-293-5387
Secretary: 507-538-0127
Fax: 507-284-0727
E-mail: joshi.avni at mayo.edu
_______________________________
Mayo Clinic
200 First Street SW
Rochester, MN 55905
www.mayoclinic.org ( file://www.mayoclinic.org/ ) 
 
 
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