ABSTRACT
Severe combined immunodeficiency is an inherited disease with profoundly defective T cells, B cells, and natural killer cells. X-linked severe combined immunodeficiency is the most common form. In this report, we describe a 4-month-old male infant who was admitted to our hospital with progressive breathlessness and abdominal mass. He was diagnosed with hepatoblastoma and presented a pneumocystis jirovecii pneumonia at the beginning of chemotherapy. Definitive diagnosis of X-linked severe combined immunodeficiency was established by DNA analysis of the interleukin 2 receptor gamma chain gene. This case is the first report which describes an X-linked severe combined immunodeficiency patient with hepatoblastoma.
Subject(s)
Hepatoblastoma , Liver Neoplasms , Pneumocystis carinii , Pneumonia, Pneumocystis , X-Linked Combined Immunodeficiency Diseases , Hepatoblastoma/diagnosis , Hepatoblastoma/drug therapy , Humans , Infant , Liver Neoplasms/diagnosis , Liver Neoplasms/drug therapy , Male , Pneumonia, Pneumocystis/diagnosis , Pneumonia, Pneumocystis/drug therapy , X-Linked Combined Immunodeficiency Diseases/diagnosis , X-Linked Combined Immunodeficiency Diseases/drug therapyABSTRACT
OBJECTIVE: Supraventricular tachycardia (SVT) is the most frequent arrhythmia requiring treatment in childhood, with an estimated incidence of 1/100 to 1/250 children. The treatment of choice of the acute event is intravenous adenosine. This study aimed to determine if doses of adenosine higher than previously described are needed to successfully revert SVT in children. METHODS: This is a retrospective study of SVT cases in a tertiary hospital from January 2007 to December 2011. RESULTS: A total of 44 episodes of SVT were recorded in 26 patients. Mean age was 3.1 years. In 39 patients (89%), adenosine was administered, reverting to stable sinus rhythm in 29 episodes, which represents an effectiveness of 75%. In relation to the number of doses administered, 12 patients (30%) received a single dose, with a mean (SD) response dose of 112 (35) µg/kg; 16 (41%) received 2 doses, with a mean (SD) response dose of 188 (55) µg/kg; and 9 (24%) received 3 doses, with a mean (SD) response dose of 249 (108) µg/kg. Finally, in 2 patients (4%), 4 doses of adenosine were administered, with only 1 of them responding to a dose of 300 µg/kg. The mean (SD) dose that reverted the SVT to normal sinus rhythm was 173 (84) µg/kg, and the mean (SD) number of doses administered was 1.7 (0.8) (range, 1-4). Sixty-six percent were discharged home, without the need to be transferred to pediatric intensive care unit or pediatric ward. CONCLUSIONS: Most of the patients with SVT episodes require treatment with more than 1 dose of adenosine. Doses higher than the usually described in the guidelines are necessary to revert SVT. Most patients can be discharged home from the emergency department, without the need of hospital admission.
