[PAGID] Autoimmune Cytopenia in a 4 month old

[Berger, Melvin]

What is heme-onc saying ?
 
Melvin Berger, M.D., Ph.D.
Adjunct Professor of Pediatrics and Pathology
Case Western Reserve University
Cleveland, OH 44106

________________________________

From: pagid-bounces at list.clinimmsoc.org on behalf of Jason W. Caldwell
Sent: Wed 9/15/2010 4:58 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [PAGID] Autoimmune Cytopenia in a 4 month old



COMMENT:

 The bone marrow trephine biopsy and clot sections are

 normocellular for age (100%).  Prominent myeloid hypoplasia is

 easily observed.  The marrow cellularity consists mostly of

 maturing erythroid precursors.  Megakaryocytes are slightly

 decreased in numbers but their morphology is unremarkable.  CD34

 immunohistochemistry reveals no increase in blasts.  There are no

 atypical lymphoid aggregates or granulomas.  Prussian blue iron

 stain shows markedly decreased iron storage with no ring

 sideroblasts.

 

 The bone marrow aspirate smears are remarkable for frequent

 dysplastic erythroid precursors with multinucleation, irregular

 nuclear outlines and nuclear to cytoplasmic dyssynchrony.

 Myeloid hypoplasia is easily identified.  Blasts are not

 increased.  There is no increase in lymphocytes.  The peripheral

 blood smear shows severe pancytopenia, occasional circulating

 nucleated red blood cells.  Flow cytometric analysis on a

 corresponding marrow sample reveals no increase in blasts.

 

 In summary, prominent myeloid hypoplasia with marked

 dyserythropoiesis is identified in this normocellular marrow.

 The findings are nonspecific, but may be seen as a secondary

 myelodysplastic syndrome due to congenital or acquired bone

 marrow failure disorders, autoimmune disorder, Rheumatic disease,

 metabolic disorder, drug/toxin exposure, infections or vitamin

 deficiency.  Correlation with clinical and cytogenetic/molecular

 findings is recommended.

 

Jason W. Caldwell DO

Assistant Professor of Internal Medicine & Pediatrics

Section Pulmonary, Critical Care, Allergy, and Immunological Diseases

Wake Forest University School of Medicine

Medical Center Boulevard

Winston-Salem, North Carolina, 27157

Office Phone: 336-716-1250

Fax:  336-716-7277

E-mail:  jcaldwel at wfubmc.edu

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Fleisher, Thomas (NIH/CC/DLM) [E]
Sent: Wednesday, September 15, 2010 4:55 PM
To: 'pagid at list.clinimmsoc.org'
Subject: Re: [PAGID] Autoimmune Cytopenia in a 4 month old

 

Bone marrow revealed?

 

Thomas A. Fleisher, M.D.

Chief, Department of Laboratory Medicine

NIH Clinical Center

tel 301 496-5668

fax 301 402-1612

email tfleishe at mail.nih.gov

 

 

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P please consider the environment before printing this e-mail

 

________________________________

From: Jason W. Caldwell [mailto:jcaldwel at wfubmc.edu] 
Sent: Wednesday, September 15, 2010 4:44 PM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] Autoimmune Cytopenia in a 4 month old

 

I have a patient that I would like the groups input.

This is a now 5 month old male that was admitted Wake Forest on Aug. 24.  He was four months old at the time of admission and had previously been health with no known pregnancy or birth complications.  Mom is health except for untreated depression.  No known meds during pregnancy.  Two weeks prior to his admission he had a 10 day treatment for a "sinus infection" with Augmentin.  He finished this 4 days prior to admission.  On the day of admission noted to have fever of 104 and pale.  Went to outside ER and found to have a WBC of 3.8,  Hb of 6.2, Plt 3000, MPV of 18.9(6.8-10.2).  ANC of 200.  Original CMP was unremarkable including normal ALT and AST.  Uric acid 4.0(2-8).  LDH 234(200-700). Ferritin 89(30-300).  DAT broad spectrum positive.  Reticulocytes peaked at 17.9 %(.2-2.5%).HIV negative by DNA and serology.  EBV PCR <300 copies.  Blood and urine culture are negative.

Immunology:  IgA 40 mg/dl; IgM 420 mg/dl;  IgG 1013 mg/dl (DONE AFTER TREATMENT with IVIG);  I did not ask for titers since IgG had been given before I was involved.  Lymphocytes 6700, CD19 1,530 or 22%;  CD3 4960 or 71%;  CD4 2900 or 43%; CD8 1880 or 28%; ratio 1.5; NK 70 or 15.  The lab here reported CD3+, CD4-, CD8- at 3.1%, but a repeat sent to another lab was 1.5%.  An LKP panel was sent and is not supportive of XLP.  NK function, Response to mitogens, and SAP were seen but are all pending.

ROS/PE: other than being pale, he looks great, smiling, is eating, urinating, and stooling, no respiratory symptoms or findings, no abdominal findings or symptoms, NO adenopathy, spleen tip is palpable, but liver is not, no rash or any skin findings.

Chest film is normal.

Bone marrow was normocellular with prominent myeloid hypoplasia, dyserythroposiesis.

The above and 2 dose of IVIG at 1g/kg and high dose steroids were done before I was consulted.  Despite this treatment he is still requiring  platelets and red blood cells ANC did rise briefly after steroids were started, but is now back to 200.  Hb today of 8 (PTF) and platelet of 4.

  I had suggested extending the viral investigations with CMV, Adenovirus, HHV-6, not yet done.  I have a concern for ALPS and have recommended the molecular analysis be sent.  The team sent XLP molecular analysis.  I suggested expanding the differential to IPEX and send for FoxP3 expression.

Despite not having many of the clinical manifestations of many of the immune deficiencies with autoimmunity, but him being so young and having a rather severe autoimmune disorder:

Should I be considering APECED, Hyper IgM?

Is there any suggestion for other infectious causes?

When would you consider alternative treatments, despite not having a definitive diagnosis?

I thank you in advance for support, agreement or criticism.

 

 

Jason W. Caldwell DO

Assistant Professor of Internal Medicine & Pediatrics

Section Pulmonary, Critical Care, Allergy, and Immunological Diseases

Wake Forest University School of Medicine

Medical Center Boulevard

Winston-Salem, North Carolina, 27157

Office Phone: 336-716-1250

Fax:  336-716-7277

E-mail:  jcaldwel at wfubmc.edu

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