DiGeorge syndrome who developed lymphoproliferative mediastinal mass / 소아과

DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing thymic shadow on their plain chest x-ray. Immunodeficient patients are traditionally known to be at an increased risk for malignancy, especially lymphoma. We experienced a 7-year-old DiGeorge syndrome patient with mediastinal mass shadow on her plain chest x-ray. She visited Severance Children's Hospital hospital with recurrent pneumonia, and throughout her repeated chest x-ray, there was a mass like shadow on anterior mediastinal area. We did full evaluation including chest computed tomography, chest ultrasonography, and chest magnetic resonance imaging. To rule out malignancy, video assisted thoracoscopic surgery was done. Final diagnosis of the mass which was thought to be malignancy, was lymphoproliferative lesion.

Successful Treatment of Child Neuro-Behcet's Disease with Infliximab

Behcet's disease is a systemic vasculitis, characterized by recurrent oral aphthous ulcers, recurrent genital ulcers, skin lesion, and ocular involvement. Monoclonal antibody to the tumor necrosis factor-alpha (TNF-alpha) is considered as a possible therapeutic approach to achieve clinical improvement, preventing relapse in Behcet's disease refractory to conventional anti-inflammatory drugs or immunosuppressive durgs. We report the use of infliximab, which is one of the TNF-alpha monoclonal antibodies, in a 17-year-old girl with Behcet's disease exhibiting severe mucocutaneous, ocular and neurological involvement refractory to standard treatment.

Measles Viral Infection in PD-1 Gene Knockout Mice / 소아감염

PURPOSE: Subacute sclerosing panencephalitis (SSPE) is a neurodegerative disease due to persistent measles virus infection. We investigated the role of programmed death-1 (PD-1) molecule which is related with chronic viral infection in developing SSPE in mouse. METHODS: We adopt the PD-1-/-, PD-1-/+, and wild type BALB/c 3 week old mice to make an animal model of SSPE by injecting measles virus (SSPE strain) intraventricularly. Three months after infusion of virus, the mice were sacrificed and examined if the typical pathologic lesions had been progressed. The sera were collected from each group of mice and the serum level of IL-21 was measured with ELISA kit. RESULTS: The necrotic lesions on white matter and gliosis were found in focal areas in wild type BALB/c. The extent of lesion was smaller in heterotype BALB/c. Scanty lesions were found in PD-1-/- mice. The sera level of IL-21 was not elevated in all three groups. CONCLUSION: Our data suggest that the PD-1 molecule may play a role in persistent viral infection.