[CIS-PAGID] Tough case. Need for your help

[Nacho Gonzalez]

Dear Colleagues,





We are concerned  about a 14 month old female who seems to suffer from
ALPSbut so far all studies have ruled out this condition. Clinical
picture began
at around 6 months of age with failure to thrive with massive
hepatosplenomegaly. Since then the patient has kept hepatoesplenomegaly,
hypergammaglobulinemia ( IgG 3.7 g/L, IgA 0.06 g/L, IgM 1.2 g/L), chronic
anemia and thrombocytopenia. Clinical course of the disease is chronic and
fluctuating with remission and exacerbation of signs and symptoms. She has
never had any fever or infectious disease. The patient doesn´t have any
lymphadenopathy. In the last months she has developed a slight
strabismus.  Immunological
studies have shown normal lymph subsets (double negative Tab cells 3%  -Normal
upper limit for our lab 4%-). Apoptosis assays have been normal (Fas and
FasL mediated apoptosis have been normal).

Bone marrow aspiration and biopsies have revealed a normal distribution of
haematological series with slight increase of  B cells in different maturation
stage. Spleen bx has revealed  a mixed population composed of  T and B cells
(57%T, normal CD4/CD8, 10% NK cells, 33% policlonal B cells). Seric IL-10 is
22 (upper limit 20). CD25s 11430* *pg/mL.

Metabolic storage diseases have been r/o even after enzymatic assays from
skin biopsy. Funduscopy is normal. Skeletal series have been normal as well.






Please let us know if you have any suggestion to diagnose this patient. If
you need any  additional data do not hesitate to ask for it.




Thanks for your time,



Jesus Ruiz Contreras
Luis Ignacio Gonzalez Granado
Paediatrics. Hospital 12 octubre. Madrid. Spain
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