A case of Werner Syndrome Complicated by Bone Metastasis of Rhabdomyosarcoma

Werner syndrome (WRN), or adult progeria, is a very rare, autosomal recessive disorder characterized by the appearance of accelerated aging, including cataracts, gray hair, skin atrophy, and atherosclerosis. This syndrome is caused by mutations in the WRN gene and had a high risk of a spectrum of rare neoplasms including: i) non-epithelial malignant or pre-malignant tumors/conditions, osteosarcomas and soft tissue sarcomas, malignant melanomas, myeloid leukemia and myelodysplastic syndrome; ii) an epithelial neoplasm, thyroid carcinoma, and iii) meningiomas. Recently, authors experienced a case of Werner syndrome complicated by bone metastasis of rhabdomyosarcoma in a 20-year old Korean man. The patient revealed a painful mass on his right knee and progeroid features, short stature, scalp alopecia, abnormal dentition, craniofacial disproportion, hypothyroidsm, cataracts and osteoporosis. The onset of symptoms of Werner syndrome generally precedes any later symptoms of associated conditions, such as malignant tumor. Therefore, early recognition of Werner syndrome is important to assist identification of malignant tumors at an early stage in this patient group.

Detection and clinical manifestations of twelve respiratory viruses in hospitalized children with acute lower respiratory tract infections : Focus on human metapneumovirus, human rhinovirus and human coronavirus / 소아과

PURPOSE: This study was perfomed to analyze in detail the viral etiology of acute lower respiratory tract infections (ALRI) in Cheunan, Korea by multiplex RT-PCR, including human rhinovirus (hRV) and newly identified viruses such as human metapneumovirus (hMPV) and human coronavirus (HCoV-OC43, HCoV-229E/NL63). Method: Nasopharyngeal aspirates (NPA) were collected from 863 hospitalized children with ALRI on the first day of admission at Soonchunhyang University Cheonan Hospital and analyzed by multiplex RT-PCR from December 2005 to November 2006. RESULTS: Viral agents were detected from 474 subjects (54.9%). The identified viral pathogens were hRV 9.2%, hMPV 6.8%, HCoV-229E/NL63 1.4%, and HCoV-OC43 2.1%. Coinfections with > or =2 viruses were observed in 108 patients (22.8%). The major period of viral ALRI was the first year of life. Clinical diagnoses of viral ALRI were pneumonia (59.5%), bronchiolitis (24.7%), tracheobronchitis (11.4%), and croup (4%). The most common causes of bronchiolitis was respiratory syncytial virus B (RSV B), whereas hMPV, hRV, HCoV-229E/NL63, and HCoV-OC43 were commonly found in patients with pneumonia. The number of hMPV infections peaked between March and May 2006. HCoV-OC43 was prevalent from November to February 2006, whereas HCoV-229E and hRV were detected throughout the year. CONCLUSION: Although the study was confined to one year, hMPV was not detected during winter and peaked between March and April, which was not consistent with previous studies'. This present study indicates that HCoV is a less common respiratory pathogen in cases of ALRI in Korean children.