Hae In Jang

Long-term follow-up of Fanconi anemia: clinical manifestation and treatment outcome

Purpose The aim of this study was to characterize Korean patients with Fanconi anemia (FA), which is a rare but very challenging genetic disease. Methods The medical records of 12 FA patients diagnosed at Chonnam National University Hospital from 1991 to 2012 were retrospectively reviewed. Results The median age at diagnosis was 6.2 years. All patients showed evidence of marrow failure and one or more physical stigmata. Chromosome breakage tests were positive in 9 out of 11 available patients. The median follow-up duration was 69.5 months. The Kaplan-Meier (KM) survival of all patients was 83.3% at 10 years and 34.7% at 20 years, respectively. Seven patients underwent 9 stem cell transplantations (SCTs). Among them, 5 were alive by the end of the study. Ten-year KM survival after SCT was 71.4% with a median follow-up of 3.4 years. All 5 patients treated with supportive treatment alone died of infection or progression at the median age of 13.5 years, except for one with short follow-up duration. Acute leukemia developed in 2 patients at 15.4 and 18.1 years of age. Among 6 patients who are still alive, 3 had short stature and 1 developed insulin-dependent diabetes mellitus. Conclusion We provide information on the long-term outcomes of FA patients in Korea. A nation-wide FA registry that includes information of the genotypes of Korean patients is required to further characterize ethnic differences and provide the best standard of care for FA patients.

Transvenous proximal closure of large congenital coronary arteriovenous fistula using the single Amplatzer vascular plug in a 3-year-old girl

Congenital coronary arteriovenous fistulas (CCAFs) are rare coronary artery abnormalities in which blood is shunted into a cardiac chamber or great vessel. If the fistula itself is large and tortuous, it is generally recommended to occlude the fistula to prevent several complications. In approaches of transcatheter occlusion, the transvenous approach is preferred over the transarterial approach. The transvenous approach would enable the cannulation of a relatively larger catheter or sheath without potential damage to the femoral vessels or normal coronary arteries, which can occur in the transarterial approach. The transvenous approach may also minimize the blind pouch after releasing the devices. Herein, we report the success of transvenous proximal closure of a CCAF using an Amplatzer vascular plug (AVP) in a 3-year-old patient with cardiomegaly. Complete occlusion was achieved by a single AVP and thrombus formation of the distal aneurysmal portion of the fistula. We suggest that this strategy of closing the proximal end with a dilated fistula using a single AVP by the transvenous approach may be a good option in treating CCAFs in a young child.

Graves disease following rabbit antithymocyte globulin treatment of severe aplastic anemia in a Korean child

Antithymocyte globulin (ATG) is used as an immunosuppressive treatment (IST) to deplete clonal suppressor T cells in patients with severe aplastic anemia (SAA). The depletion of suppressor T cells by ATG may affect the activation of B cells, which results in an increased risk for autoimmune conditions. A 12-year-old boy was diagnosed with idiopathic SAA. As he did not have an human leukocyte antigen-matched sibling, he was treated with rabbit ATG (3.5 mg/kg/day for 5 days) and cyclosporine. Five months later, he became transfusion independent. However, 23 months after IST, he complained of mild hand tremors, sweating, weight loss, palpitations, and goiter. Results of thyroid function tests revealed hyperthyroidism (free thyroxine, 3.42 ng/dL; thyroid stimulating hormone [TSH], <0.01 nIU/mL; triiodothyronine, 3.99 ng/mL). Results of tests for autoantibodies were positive for the antimicrosome antibody and TSH-binding inhibitory immunoglobulin, but negative for the antithyroglobulin antibody and antinuclear antibody. He was treated with methimazole, and his symptoms improved. The patient has been disease free for 39 months after IST and 9 months after methimazole treatment. This case report suggests that although rare, rabbit ATG may have implications in the pathogenesis of autoimmune hyperthyroidism. Our findings suggest that thyroid function tests should be incorporated in the routine follow-up of SAA patients treated with ATG.

Lung torsion after tracheoesophageal fistula repair in an infant.

Lung torsion is a very rare event that has been reported in only 9 cases in the pediatric literature but has not yet been reported in Korean infants. We present a case of lung torsion after tracheoesophageal fistula repair in an infant. Bloody secretion from the endotracheal tube and chest radiographs and computed tomographic scan results indicated lung torsion. Emergency exploration indicated 180° torsion of the right upper lobe (RUL) and right middle lobe (RML). After detorsion of both lobes, some improvement in the RUL color was observed, but the color change in the RML could not be determined. Although viability of the RML could not be proven, pexy was performed for both the lobes. Despite reoperation, clinical signs and symptoms did not improve. The bronchoscopy revealed a patent airway in the RUL but not in the RML. Finally, the RML was surgically removed. The patient was discharged on the 42nd day after birth.