Case report - Ataxia-telangiectasia: innate error of immunity and neurological aspects

Among more than 350 immunological deficiencies, 25% have neurological manifestations. Thus, Ataxia-telangiectasia stands out, being considered a combined immunodeficiency. In childhood, cerebellar motor findings and recurrent sinopulmonary infections, signaling early cerebellar degeneration and deficit in the combined immune response. It has an autosomal recessive inheritance pattern. Case report: She describes herself as a female patient, 9 years old, daughter of consanguineous parents and born in Sousa, Paraíba. In the child’s neuropsychomotor development, she sat down at 5 months, verbalized loose words at 12 months and started the process of ambulation at 13 months of life. While walking, the mother noticed strange walking and frequent hospitalizations due to recurrent pneumonia. From 7 years of age, there is worsening of gait and telangiectasias in the conjunctiva are evident. Subsequently, the molecular examination in order to demonstrate the possible mutation. Therefore, a mutation described as c.7913G> A (p.Trp2638 *) was found in homozygosity in exon 53 of the ATM gene. Findings: typical onset of early childhood when walking, swallowing problems with solid and liquid foods and the growth disorder. Regarding the immune system: low levels of immunoglobulins, but without lymphopenia and the worrying presence of adenomegaly, making it necessary to always pay attention to neoplasms such as leukemias and lymphomas. In disagreement, there are no: myoclonus, the highest IgM levels, cutaneous granulomas and bone deformities. Conclusions: The case presents aspects that are very consistent with the scientific findings consolidated in Ataxia-telangiectasia, but the late molecular diagnosis.