A Case of Progressive Mulitifocal Leukoencephalopathy in a Immunodeficiency Chidren of Primary Ciliary Dyskinesia

초록

We report here on a rare case of primary ciliary dyskineisa (PCD) accompanied by leiomyosarcoma of the spleen and progressive mulifocal leukoencephalopathy (PML). A 10-year-old girl was admitted to this hospital for the stereotactic biopsy of the multiple cerebellar lesions. She had a history of PCD at 6-year-old and had had total splenectomy for leiomyosarcoma a month ago. The cerebellar lesion showed large astrocytes with pleomorphic, hyperchromatic nuclei and intranuclear inclusion and contains moderate number of foamy macrophages, but only scanty perivascular lymphocytes. The nuclei of large astrocytes were positive for JC virus in situ hybridization. PCD is predominantly an autosomal recessive disorder leading to recurrent upper and lower respiratory tract infection, and in nearly 50% of cases, mirror-image arrangement. Ciliary dysfunction is also implicated in a broader spectrum of disease, such as polycystic liver and kidney disease, biliary atresia and central nervous system abnormalities, including retinopathy and hydrocephalus. But a case accompanied by leiomyosarcoma and PML is extremely rare. Key Words: Primary ciliary dyskinesia, Leiomyosarcoma, Progressive multifocal leukoencephalopathy