Challenging differential diagnosis, Rare disease
Chad J. Cooper, Sarmad Said, Raphael Quansah, Sayeed Khalillullah, Ogechika Alozie
Department of Internal Medicine, Texas Tech University Health Science Center, El Paso, USA
Am J Case Rep 2013; 14:471-475
Background: Common variable immunodeficiency (CVID) is a primary immunodeficiency associated with hypogammaglobulinemia and other various clinical manifestations. It is a rare disease with a prevalence of CVID is approximately 1: 50,000–200,000. Clinical manifestations of CVID include recurrent bacterial infections, autoimmune, gastrointestinal, lymphoproliferative, granulomatous, and malignancy.
Case Report: Twenty-two year-old Hispanic female presented with a throbbing headache, nuchal rigidity, photophobia and a high grade fever. Lumbar puncture with CSF assessment revealed a turbid fluid with WBC of 6937 per uL, polymorphnuclear cells of 81%, protein 248 mg/dL, glucose <3 mg/Dl. CSF antigens were positive for Streptococcus pneumonia and CSF culture grew pansensitive Strepococcus pneumonia. Immunoglobin (Ig) levels of IgA, IgE, IgG and IgM were all decreased. Absolute cell counts of CD3, CD4 and CD8 were all low. Bone marrow biopsy was normocellular. Excisional lymph node biopsy revealed lymph nodes with reactive follicular hyperplasia. Common variable immunodeficiency disease (CVID) was diagnosed based on exclusion. IVIG therapy was given and patient received a two-week course of ceftriaxone.
Conclusions: The diagnosis of CVID is made based on the following criteria: 1) Marked decrease of IgG and at least one of the IgM or IgA isotypes. 2) The onset of immunodeficiency at greater than 2 years old. 3) Absence of isohemagglutinins and/or poor response to vaccines 4) Exclusion of other defined causes of hypogammaglobulinemia. A definite diagnosis is often late because it is wrongly assumed that primary immunodeficiencies are extremely rare, hence many patients are already seriously ill at the time of presentation.
Keywords: immunoproliferative, Immunodeficiency disorder, Streptococcus pneumoniae, bacterial meningitis, Common Variable Immunodeficiency