Discussion
Ataxia-telangiectasia (A-T) is a genetic neurodegenerative disorder
described by several problems such as ataxia, telangiectasis, failure in
motor ability, unusual eye movement, immune deficiency, pulmonary
disorder, and susceptibility to hematologic malignancies due to the
mutation in the ATM gene on the chromosome 11q22.23 (1, 2, 12).
Infectious complications play indispensible role in the morbidity and
mortality of the disease (6). The etiology of some hematologic disorders
in A-T patients may be related to immune disorders such as
thrombocytopenia. Furthermore, inflammation participates in the
pathogenesis of the disease. It is demonstrated that inflammatory
cytokines had the increased levels in A-T patients (13). These increased
levels can be involved in inflammatory diseases such as suppurative
rhinitis, gastroenteritis, acute otitis media, and parotiditis which
were observed in our case. One of the characterizations of A-T is
cerebellar neurodegeneration (14). In our patient, nervous system
disorders were included ataxia and ocular nystagmus. In this respect, it
is stated that the neurogenesis kinetics in A-T are changed. TheATM gene encodes a protein kinase which participates in the
activation of cellular responses to DNA double-strand breaks and neural
stability (15, 16). Hence, it is likely that these functions are
disrupted by ATM mutation. The majority of A-T patients have immune
problems such as defects in the productions and/or functions of IgA,
IgG, and reduction in the number of CD4+ T cells. Moreover, it is
reported that few A-T patients have HIgM syndrome or different viral and
opportunistic infections (2). However, our case has chickenpox, zona,
and HIgM syndrome with a significant frequency of CD4+ cells which the
reason of this occurrence is not clearly known. Others have indicated
that pulmonary disorders in A-T may be contributed to neurological
disorders, regressive infectious, and lung disorder (2).