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.