A Case of Persistent Pneumonia In A Patient Of Ataxia Telangiectasia

Abstract

Ataxia telangiectasia (AT) homozygotes have an increased risk for development of malignancies. Our patient, despite frequent courses of antibiotics, displayed persistent pulmonary infiltration, fever, and mediastinal enlarged lymph nodes on thoracic computed tomography. No infectious etiologies were established for the persistent pulmonary findings by fine needle biopsy, bronchopulmonary lavage and core lung biopsy. Histopathological examination of core lung biopsy revealed Hodgkin disease (HD).

A new ataxia-telangiectasia mutation in an 11-year-old female

“…These kinds of involvements of the lungs, especially adenopathies along with diffuse bilateral micronodular infiltration, have not previously been reported. A-T is also associated with a susceptibility to sinopulmonary infection and predisposes patients to malignancy (Mannaa 2016 ; Rothblum-Oviatt et al 2016 ; Bhatt et al 2015 ). A-T has an incidence of 1/40,000–1/300,000 subjects worldwide, depending upon the region (Rothblum-Oviatt et al 2016 ; Sedgewick et al 1972 ; Swift et al 1986 ).…”

“…In some cases of atypical A-T with reduced severity, cancer detection may precede the diagnosis of A-T (Bielorai et al 2013 ; Yanofsky et al 2009 ). These cancers may also differ from those observed in classical A-T: for example, a case report involving a 6-year-old child with A-T with Hodgkin lymphoma in comparison to the more common incidence of non-Hodgkin lymphoma (Mannaa 2016 ; Niedobitek et al 2001 ).The humoral immunodeficiency in A-T patients can affect serum IgA and/or IgG2 levels (Staples et al 2008 ). However, 10% of patients have increased levels of serum IgM concentrations with a deficiency of IgG and IgA (Noordzij et al 2009 ).…”