[CIS-PAGID] Lymphoproliferative syndrome

[Juan Carlos Aldave Becerra]

Dear Doctors, I have been presented another case of suspected PID.



Boy, 12
years old



No PID history in family.

 

Patient history:

-       No severe infections, no pneumonia, no failure to
thrive

Main signs and symptoms: fever, aphthous ulcers, hepatosplenomegaly,
lymphadenopathy, ascitesCurrent history:

-      
15th October 2010: fever for 24 days, up to
39°C → was admitted to the hospital → mild leucopenia,
mild hepatomegaly; hypertransaminasemia; no clear diagnosis after discharge →
Then recurrent episodes of fever lasting 3-5 days, up to 38.5°C, until December
2010.

-      
26th October 2011: aphthous stomatitis, fever
up to 39.5°C, cough, no response to levofloxacin → was admitted to a
local hospital → hepatosplenomegaly, lymphadenopathy, ascites → started anti-tuberculosis treatment because of an elevated ADA in the
ascitic fluid → refered to our hospital. Fever persists.

-      
22nd November
2011: PCR Epstein-Barr virus = 405 copies/mL → started IV acyclovir → 1 week later: 0 copies/mL
(different lab)




Physical exam:

Active,
helpful; several 2x1 cm aphthous ulcers in the mouth; several cervical and
inguinal lymph nodes of 1 cm, painless; lungs sound clear; hepatosplenomegaly,
signs of ascites.

 

WORK
UP:

Hematology:

WBC = 2990/µL

Neutrophils = 1050/µL

Lymphocytes = 650/µL

Platelets = 95000/µL

Hb = 11.9 g/dL

Metabolic:

CRP = 6.7

Albumin = 3.37 g/dL

Alkaline phosphatase = 742

AST = 742

ALT = 401

Ferritin = 1249 ng/mL

Proteinuria = 1062.7 mg/24
hours

B2-microglobulin = 3.92
(normal values: 0.67-2.14)

Adenosin deaminase in ascitis
fluid = 77 (normal value <40)

Immunology:

IgG = 555 mg/dL

IgA = 154 mg/dL

IgM = 6 mg/dL

IgE = 326 IU/mL

CD3 lymphs = 529/µL

CD4 lymphs = 301/µL

CD8 lymphs = 207/µL

CD19 lymphs = 95/µL
(11.35%)

EBNA-EBV IgG (+)

VCA-EBV IgG (+)

VCA-EBV IgM (-)

Microbiology:

PCR for M. tuberculosis
(ascitic fluid): negative

PCR for Epstein-Barr virus
(blood): 405 copies/mL; 1 week later: 0 copies/mL
(different lab)

Pathology:

Bone marrow smear: reactive
bone marrow, increase of histiocytes 

Lymph node biopsy: sinusal
histiocitosis, medullar congestion, erythrophagocytosis

Liver biopsy: necrosis in
patches, portal inflammation, Kupffer cells hyperplasia, no granuloma

Bone marrow smear
(07/11/2011): histioerythrophagocytosis

Imaging:

Chest-abdominal CT:
hepatosplenomegaly; axilar, retroperitoneal, mediastinal and mesenteric
adenopathies; severe ascites

  


Suspected diagnosis:

Lymphoproliferative syndromeHemophagocytic lymphohistiocytosisPrimary Immunodeficiency: XLP

Please let me know your suggestions for approach and management.

Thank you very much,

Juan Carlos Aldave
Allergy and Clinical Immunology
Lima-Peru


 		 	   		  
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