Nontuberculous mycobacterial pulmonary disease in a 16-year-old female patient with bronchiectasis

Nontuberculous mycobacterial (NTM) pulmonary disease generally occurs in old people with underlying lung disease. However, unlike adults, NTM infections in children with normal immunity are rare, and they occasionally manifest as lymphadenitis. We herein present a rare case of NTM pulmonary disease in a girl who is the youngest patient reported in Korea. A 16-year-old female was brought to the hospital because of dyspnea on exertion, fever, and productive cough. The patient had bronchiectasis. She underwent Fontan operation for right isomerism, double outlet right ventricle, pulmonary stenosis, and had been taking prophylactic antibiotics for asplenia. NTM were found in the sputum and bronchoalveolar lavage fluid by acid fast bacillus (AFB) staining and culture, which were identified as Mycobacterium avium. The treatment started with azithromycin, ethambutol and rifampicin. After 6 months of treatment, respiratory symptoms improved and the sputum AFB culture became negative. She is currently on medication with above-mentioned drugs for 10 months without any adverse effects. This case suggests that NTM pulmonary disease should be suspected and properly treated especially in children and adolescents with underlying lung disease.

A pediatric case of Brugada syndrome diagnosed by fever-provoked ventricular tachycardia / 소아과

Brugada syndrome is a rare channelopathy associated with the SCN5A gene that causes fatal ventricular arrhythmias. This case of Brugada syndrome, in which ventricular tachycardia (VT) was provoked by high fever, is the first report in a Korean child. The boy had retinoblastoma of his left eye diagnosed at 16 months of age. After chemotherapy, he contracted a catheter-related infection with a high fever up to 41degrees C leading to monomorphic VT. This was characterized as having right bundle branch block morphology, superior axis deviation, and a heart rate of 212/min. Direct current cardioversion recovered the VT to sinus rhythm after a lack of response to amiodarone and lidocaine. A second attack of VT that was not controlled by cardioversion, however, responded to lidocaine. The baseline electrocardiogram showed a long PR interval and QRS duration, and the patient's grandfather had a history of Brugada syndrome. A mutation in SCN5A was identified in this patient, his father, and his grandfather. The patient was treated with quinidine and followed up for 1 year.

Standard Induction Followed by Low Dose Cytarabine for the Treatment of Acute Myeloid Leukemia of Down Syndrome / 임상소아혈액종양

BACKGROUND: Although acute myeloid leukemia occurring in patients with Down syndrome (AML-DS) is generally chemosensitive, these patients are more susceptible to regimen-related toxicities, and the optimal post-remission therapy for AML-DS is unknown. This study aimed to evaluate the outcome of post-remission chemotherapy using low dose cytarabine for AML-DS. METHODS: We reviewed the medical records of 142 patients who were newly diagnosed as de novo AML between 1996 and 2011. Among them, 8 patients (5.6%) had Down syndrome. Seven patients received standard induction therapy composed of cytarabine (or behenoyl cytarabine) and anthracycline. Once complete remission (CR) was achieved, repetitive courses of low dose cytarabine were given. RESULTS: Patients' median age at diagnosis was 1.3 years (range, 0.4-1.9). All but one showed French-American-British (FAB) M7 morphology. Six patients achieved CR (75%) after induction therapy and then received 9 to 20 courses (median, 14) of low dose cytarabine. One patient had 2 episodes of neutropenic fever, whereas the other 5 patients did not suffer from any complication. All six patients are alive event-free with a median follow-up of 118 months (range, 33-208). The estimated 5-year overall survival of all 8 AML-DS patients was 87.5%, while that of non-DS de novo AML patients was 58.6% (P=0.18). CONCLUSION: Low dose cytarabine was safe and effective as a post-remission therapy for AML-DS. Due to the rarity of AML-DS, a multicenter cooperative study is essential to identify the optimal duration of treatment and to further determine the feasibility of low dose cytarabine for these patients.

Standard Induction Followed by Low Dose Cytarabine for the Treatment of Acute Myeloid Leukemia of Down Syndrome / 임상소아혈액종양

BACKGROUND: Although acute myeloid leukemia occurring in patients with Down syndrome (AML-DS) is generally chemosensitive, these patients are more susceptible to regimen-related toxicities, and the optimal post-remission therapy for AML-DS is unknown. This study aimed to evaluate the outcome of post-remission chemotherapy using low dose cytarabine for AML-DS.METHODS: We reviewed the medical records of 142 patients who were newly diagnosed as de novo AML between 1996 and 2011. Among them, 8 patients (5.6%) had Down syndrome. Seven patients received standard induction therapy composed of cytarabine (or behenoyl cytarabine) and anthracycline. Once complete remission (CR) was achieved, repetitive courses of low dose cytarabine were given.RESULTS: Patients' median age at diagnosis was 1.3 years (range, 0.4-1.9). All but one showed French-American-British (FAB) M7 morphology. Six patients achieved CR (75%) after induction therapy and then received 9 to 20 courses (median, 14) of low dose cytarabine. One patient had 2 episodes of neutropenic fever, whereas the other 5 patients did not suffer from any complication. All six patients are alive event-free with a median follow-up of 118 months (range, 33-208). The estimated 5-year overall survival of all 8 AML-DS patients was 87.5%, while that of non-DS de novo AML patients was 58.6% (P=0.18).CONCLUSION: Low dose cytarabine was safe and effective as a post-remission therapy for AML-DS. Due to the rarity of AML-DS, a multicenter cooperative study is essential to identify the optimal duration of treatment and to further determine the feasibility of low dose cytarabine for these patients.