D3.324 - Mastoiditis as complication of Hyper IgM syndrome
Case report
Background: Hyper IgM is also known as immunoglobulin class switch recombination (Ig-CSR) deficiencies. The rate of all forms of hyper IgM has been reported to be 1 per 20 million births being the most common X-linked with 70% of all cases. The most common presentation being infections.
Objective: Describe a case report of a woman with Hyper IgM associated complications
Methods: Case report. Informed consent was obtained.
A 19 years old female product from the 4th pregnancy from a non consanguineous marriage born in El Salvador and now resident in México city. Healthy mother and father with family history of 2 young healthy brothers deceased to gang murder, and one brother with history of solved tuberculosis infection. At age 1 she presented a non-complicated pneumonia and during childhood multiple respiratory and middle ear infections, requiring again hospitalizations due pneumonia events at five and eight years old. At the age 15 she presents with a history of fever, headache and ipsilateral hearing loss with retroauricular pain, erythema and otorrhea. Image studies revealed signs of bilateral opacification of the middle ear and mastoid cavities with destruction of mastoid consistent with bilateral acute coalescent mastoiditis. There were no signs of associated encephalic, meningeal or ear malformation. She required radical mastoidectomy. Due to social problems her family migrates to our country and due to ear problems she is sent to our institution, where we complete the evaluation for suspecting an inborn error of immunity.
Results: Negative HIV test, Hepatitis HBV and HCV. Low levels of immunoglobulin IgA IgE and IgG and high level IgM (904 mg/dL). Genetic panel pending.
Conclusions: Patient with HIGMS are prone to infectious and non infections complications being the first group the most common. Otitis evolving with mastoiditis, abscesses or systemic infections is a warning sign to investigate inborn error of immunity in ear infections though this patient had previous red flag of pneumonia events the immune evaluation was delayed. We report the case of a young female patient who developed mastoiditis complicated that requires radical mastoidectomy, which led us to suspect an inborn error of immunity.
