Subject description
Our case is an 8-year-old pediatric patient who had been studied due to recurrent respiratory infections and other health problems. He was born via elective cesarean section from a mother who delivered at 41- week gestation. His birth weight was 3250 grams. Our pediatric patient suffered from different manifestations of infections during years, including pneumonia, otitis, parotiditis, chickenpox, zona, etc. At first, HIgM syndrome was diagnosed but after it, other manifestations of A-T appeared. His parents had consanguinity. His umbilical cord dropped at 11 days of age. The routine vaccination was done and he was nourished with mother milk. Thus, growth and weight gaining were normal. In family history, there was A-T in his mother’s uncle’s children. The patient had several experiences of mouth aphthous during the first year of age and was hospitalized in Kashan Shahid Beheshti hospital owing to pneumonia for one week. At 15 months of age, magnetic resonance imaging (MRI) was carried out because of ataxia while seating. The result of MRI was normal. Afterwards, ataxia occurred in walking in the form of waddling gait. Ataxia was treated by behavioral therapy. The patient was hospitalized due to severe fever and neutropenia at 18 months of age and discharged after recovery. During these years, our case was also admitted to Kashan Shahid Beheshti hospital three times because of fever and suppurative rhinitis. When the patient was three years old, he suffered from petechial, thrombocytopenia, and mouth bleeding. Idiopathic thrombocytopenic purpura (ITP) was considered and he was treated with intravenous immunoglobulin (IVIG). However, patient had petechial all over the body after ten days. Bone marrow aspiration (BMA) was done to detect the cause(s) of thrombocytopenia. The result was normal. Having considered that thrombocytopenia may be associated with splenomegaly, sonography was performed. In his sonography, mild splenomegaly was reported which was normal in later follow up. Thrombocytopenia was treated with IVIG and corticosteroids and the clinical symptoms were gradually disappeared. At 3.5 years of age, our case experienced acute otitis media, which was treated with antibiotic therapy (meropenem and vancomycin) and ventilation tube (VT). During these years, he also had several episodes of respiratory infections (pneumonia and otitis) and acute gastroenteritis which were treated out-patiently with co-amoxiclav, azithromycin, and tavanex. At four years of age, the patient suffered from herpetic gingivostomatitis and chickenpox. Moreover, he had otitis and neutropenia again. Therefore, he was hospitalized in Kashan Shahid Beheshti hospital for one week. Immunological situation of patient was investigated (Table. 1). Based on laboratory data, HIgM syndrome was suggested. Antibiotic therapy and IVIG were employed to treat patient and then discharged. When our case was six years ago, he had ocular nystagmus accompanied by severe telangiectasia and ataxia. Regarding the fact that the patient’s family history was positive for A-T, he was genetically studied to determine a defect in the ATM gene. The genetic analysis revealed that our case suffered from A-T (Table. 2). After certain diagnosis of A-T, antibiotic prophylaxes, IVIG administration, and different food regimes were considered as a suitable approach to control health condition of patient. However, the patient had zona and parotiditis after one year. He was hospitalized in Kashan Shahid Beheshti hospital for two weeks and received acyclovir. The patient is currently alive and in good health condition.