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

[Nacho Gonzalez]

Dear Soma and Christine, the patient doesn´t fit HLH criteria, even she had
*low *lipids. This is why we considered the possibility of Niemann-Pick
disease and every type has been r/o.
Thanks again

2011/8/4 Ciaccio, Christina, E <ceciaccio at cmh.edu>


> **

> Yes, if familial hemophagocytic lymphohistiocytosis is suspected,

> Cincinatti will run all of the genetics (Perforin, Munc, Syntaxin...)

>

>

> http://www.cincinnatichildrens.org/svc/alpha/m/molecular-genetics/hlh-spec.htm

>

> Chrissy

>

>

> *Christina Ciaccio, M.D. *

>

> Assistant Professor, Allergy/Immunology****

>

> University of Missouri-Kansas City****

>

> Children's Mercy Hospital and Truman Medical Center****

>

> Kansas City, Missouri  64108****

>

> 816-234-3097 (phone)****

>

> 816-346-1301 (fax)****

>  ------------------------------

>  *From:* pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] *On Behalf Of *Jyonouchi, Soma C

> *Sent:* Thursday, August 04, 2011 5:21 AM

>

> *To:* pagid at list.clinimmsoc.org

> *Subject:* Re: [CIS-PAGID] Tough case. Need for your help

>

>   Do you have results for any of the following laboratory study results

> available for this patient?

>

> - Triglyceride

> - Fibrinogen

> - Ferritin

> - NK functional assay

> - Liver enzymes

> - PT/PTT

>

> SJ

>

>  ------------------------------

> *From:* pagid-bounces at list.clinimmsoc.org [

> pagid-bounces at list.clinimmsoc.org] On Behalf Of Nacho Gonzalez [

> nachgonzalez at gmail.com]

> *Sent:* Thursday, August 04, 2011 4:30 AM

> *To:* pagid at list.clinimmsoc.org

> *Subject:* [CIS-PAGID] Tough case. Need for your help

>

>   Dear Colleagues,

>

>

>

>

>

> We are concerned  about a 14 month old female who seems to suffer from

> ALPS but 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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