[CIS PIDD] [cis-pidd] severe WAS and lymphadenopathy

[CIS-PIDD]

Dear all;

  Would love to hear your thoughts on a complicated patient regarding possible etiologies and workup.

  We are caring for an 8 month old male with WAS (c.58C>T, p.Q20, minimal protein expression) who is pre BMT.  Complications have included coombs positive hemolytic anemia, controlled post steroids and ritux, autoimmune neutropenia, requiring occasional GCSF but responsive to IgG, and ITP, also responsive to IgG.  He has had hepatosplenomegaly for the past 4 months with mild transaminitis.  Infectious studies were negative; liver biopsy reviewed here and at NIH showed some glycogenosis and extramedullary hematopoiesis, but no other pathologic finding.

  His pre BMT CT scans now show periaortic lymphadenopathy, not overtly huge (1 x 2cm biggest one), with scattered shotty axillary/inguinal nodes that are unfortunately too small and not reproducible on exam nor ultrasound.  PET CT also shows scattered retroperitoneal, porta hepatic and splenic lymph nodes of mild uptake (max SUV 2.5).   After reviewing imaging with surgery, these are all in challenging positions to biopsy and they would not recommend we pursue them.  Bone marrow in late May was normal except for decrease/near absence in mature myeloid forms (he was neutropenic at the time), I think a part of his autoimmunity.  He is very well appearing and playful despite notable abdominal distention.

Studies so far:

Infectious:

-          EBV, CMV, Adeno pcr negative

-          Aerobic, anaerobic, fungal, AFB cultures negative

-          HHV6, entero, bartonella and urine histo/blasto pending

-          BMT serologies (hep B, C, HIV, HTLV, syphilis, west nile) negative

-          HIV, HTLV, toxoplasma PCR pending

Immunology/chemistry:

-          WBC 3.56

-          Hgb 9.0

-          Plt 23

-          ANC 1780

-          CD3 1097

-          CD4 983

-          CD8 113

-          CD19 262 (around  2months post ritux...previously 0)

-          NK 541

-          Normal chemistries, LDH, uric acid

-          Mild transaminitis (50s) with no hyperbili and normal GGT

-          TCR alpha/beta gamma/delta normal mid may; repeat pending

-          TCR V beta repertoire pending

Imaging:


CT - Vasculature: The abdominal aorta and major branching vasculature are

patent and of normal caliber. The portal venous system is patent.

Increased periaortic lymphadenopathy, index lymph node

conglomerate now measures 1.1 x 1.9 cm(series 3 image 42), previously

8.4 x 1.4 cm. Additionally there is increased inguinal

lymphadenopathy, left greater than right, when compared to prior

(series 602, image 32).



Liver u/s - Within the left lobe of liver there is a 1.1 x 1.0 x 1.3 cm

heterogeneous lesion correlating to the hypermetabolic lesion

visualized on PET (biopsy of which revealed extramedullary

hematopoiesis).  At the portal venous confluence there is an approximately 1.9 x 0.9 x

1.8 cm hyperechoic lobulated lesion demonstrating a small amount of

vascular flow.  No intrahepatic biliary duct dilatation is seen.

Biliary ducts: Normal.

Gallbladder: Normal.

Pancreas: Normal.

Spleen: Mildly enlarged for age.

Doppler:

Main portal vein spectral Doppler: Normal.

Hepatic veins color ultrasound: Normal.


Liver biopsy: The hepatic architecture is preserved. The connective tissue stains show no fibrosis. There is diffuse cell swelling by a pale amphiphilic material consistent with glycogen; this is associated with mild macrovesicular steatosis. There is a mild portal chronic inflammatory infiltrate without significant interface hepatitis. There are rare foci of lobular inflammation. There are scattered individual and small groups of immature to mature myeloid cells. CD34 immunostain shows a normal pattern of endothelial staining. Myeloperoxidase stain highlights myeloid elements. The PAS is intensely positive with removal of staining by diastase. The extramedullary hematopoiesis seen in this biopsy likely relates to the patient's Wiscott-Aldrich syndrome.  CMV, EBER, and adenoviral stains are negative.


  He clearly has very severe WAS, but I am hesitant to go to transplant with unexplained lymphadenopathy and HSM.  There does not seem to be any evidence of EBV.  Has anyone seen EBV negative lymphoproliferation in WAS at such an early age?

  Thanks for your thoughts!

  Blachy

Blachy J. Dávila Saldaña, MD
Attending Physician, Division of Blood and Marrow Transplantation
Children's National Health System
Assistant Professor of Pediatrics
George Washington University School of Medicine and Health Sciences
111 Michigan Avenue, N.W.
Washington, DC 20010
Phone: 202-476-4561
Fax: 202-476-2280


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