Q:

11/29/2012
I have 3 yr old girl with huge splenomegaly, liver palpable 3cm, anemia and thrombocytopenia. BM aspiration & biopsy were normal. She had tooth decay and mentality is normal. She had 2 siblings die at age 1-2 yrs for unknown cause presumably sepsis. IGM is low 2.5mg, IGA is high, IGG is normal. Coombs negative, doppler US abdomen normal. What is diagnosis? Thank you.

A:

Thank you for your inquiry.

I am referring your question to Dr. Krishnaswamy, who is an expert in IgM deficiency. As soon as we received Dr. Krishnaswamy’s response, we will forward it to you.

Thank you again for your inquiry.

Sincerely,
Phil Lieberman, M.D.

We received a response from Dr. Krishnaswamy regarding your Ask the Expert inquiry. Thank you again for your inquiry and we hope this response is helpful to you.

Sincerely,
Phil Lieberman, M.D.

Response from Dr. Krishnaswamy:
The patient presented raises some concerns. I do believe that a more comprehensive work up is important. This might include:

  • Functional antibody responses
  • CMV/EBV/Mycoplasma titers
  • Reticulocyte count
  • Complement levels: CH50
  • T cell numbers and function


I would get a hematologist to also see this patient

Differential suggested below:

  • 3 year old female child with selective IgM deficiency per labs
  • Ethnicity is unknown
  • Hepatosplenomegaly- if confirmed on abdominal ultrasound (unable to understand how this was read as "normal"), thrombocytopenia and anemia would be unusual with sIgM deficiency
  • Low IgM, elevated IgA and normal IgG
  • Coombs negative anemia
  • Anemia/thrombocytopenia may be related to hypersplenism versus autoimmunity


D/D:

  • Selective IgM deficiency associated with infectious, neoplastic or autoimmune complications Versus
  • CVID (Childhood-onset)
  • Wiskott-Aldrich syndrome (need mean platelet volume; history of eczema?)
  • ALPS (Fas-FasL mutation/CASPase 8/10)-double negative cells are often present as biomarker
  • Hematophagocytosis syndromes if associated with fever- either primary or secondary: Hypertriglyceridemia nd hyperferritinemia as well as elevated IL-2R as biomarkers
  • Versus metabolic or inflammatory/infectious diseases of the liver/spleen  Such as EBV, CMV, malaria, Mycoplasma, hepatitis C, storage diseases etc.


Guha Krishnaswamy

AAAAI - American Academy of Allergy Asthma & Immunology