Methods: Flow cytometric assay, chart review
Results: A 5 year old male presented with a 1.5 year history of persistent cutaneous lesions and recurrent otitis media. Skin biopsy revealed non-caseating granulomas, and whole body CT scan revealed diffuse lymphadenopathy. Evaluation by Neuro-Ophthalmology and Rheumatology for tuberous sclerosis and sarcoidosis respectively was normal. Evaluation of total immunoglobulins revealed absence of IgG, IgA, and IgE. IgM was elevated at 272 MG/DL. Intravenous gamma globulin replacement was initiated with noted immediate resolution of cutaneous granulomas. Initial evaluation for Hyper IgM syndrome was normal. Ocular telangiectasias were noted, Alpha-fetoprotein level was markedly elevated, and the diagnosis of AT was made.
Conclusions: We present a case of AT presenting with cutaneous granulomas and recurrent sinopulmonary infections, with initial evaluation revealing absent IgG and IgA, with elevated IgM. Hypogammaglobulinemia, as well as elevated IgM are well described in AT patients, however, absent IgG and IgA occurring in conjunction with elevated IgM is rare. This patient highlights the importance of maintaining a high index of suspicion for AT despite absence of ataxia. Due to their defect in the ATM gene and thus dysfunctional DNA repair, patients are highly susceptible to radiation exposure and subsequent malignancy. Thus, early identification is imperative to prevent unnecessary radiation exposure and the exponentially increased malignancy risk that results.