Alveolar rhabdomyosarcoma with massive disseminated intravascular coagulopathy treated with systemic chemotherapy / 소아과

It is uncommon for pediatric patients with rhabdomyosarcoma to present with clinical and/or laboratory features of disseminated intravascular coagulation (DIC). We report a case of metastatic alveolar rhabdomyosarcoma with severe bleeding because of DIC in a 13-year-old boy. He experienced persistent oozing at the site of a previous operation, gross hematuria, and massive epistaxis. Two weeks after initiating combination chemotherapy consisting of vincristine, doxorubicin, and cyclophosphamide, the patients' laboratory indications of DIC began to resolve. During this period, the patient received massive blood transfusion of a total of 311 units (26 units of red blood cells, 26 units of fresh frozen plasma, 74 units of platelet concentrates, 17 units of single donor platelets, and 168 units of cryoprecipitate), antithrombin-III and a synthetic protease inhibitor. Despite chemotherapy and radiation therapy, he died 1 year later because of disease progression. In children with metastatic rhabdomyosarcoma and massive DIC, prompt chemotherapy and aggressive supportive care is important to decrease malignancy-triggered procoagulant activities.

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea / 소아과

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

Usefulness of Serum Alkaline Phosphatase in Predicting Osteopenia and Rickets in Very Low Birth Weight Infants

PURPOSE: This study assesses the usefulness of alkaline phosphatase (ALP) in predicting the radiologic osteopenia and rickets for very low birth weight infants (VLBWI) below 1,500 g of birth weight. METHODS: Medical records of 258 VLBWI who were admitted at NICU between January 2009 and December 2011 were reviewed retrospectively. ALP max was defined by maximum level of ALP during admission. Subjects were divided into two groups: the study (n=112, ALP max > or =450 IU/L) and the control group (n=146, ALP max <450 IU/L). The two groups were compared based on the demographic and perinatal risk factors, clinical parameters, and morbidity. Also compared between the groups were: the level of ALP max, total and ionized calcium, inorganic phosphorus, and radiologic finding. To assess the usefulness of ALP in predicting the radiologic osteopenia and rickets, the sensitivity, specificity, and the positive (PPV) and negative predictive values (NPV) according to ALP max level were examined. A receiver operator characteristic (ROC) curve was constructed to determine the optimal cut-off value of ALP for the radiologic diagnosis. RESULTS: The study group was more immature and smaller, and had more perinatal risk factors with higher morbidity. The sensitivity and specificity for the radiologic finding on the basis of ALP max 450 IU/L were 68.8% and 64.9%, PPV 39.3%, and NPV 86.3% with a significance (P<0.001). In ROC curve, we observed the appropriate cut-off value to be 459.5 IU/L (P<0.001). CONCLUSION: The baseline of ALP max 450 IU/L was useful in predicting the radiologic osteopenia and rickets in VLBWI.

Usefulness of Neuroimaging Study in Cephalohematoma of Newborn / 대한주산의학회잡지

PURPOSE: Cephalohematoma is a common birth injury that is absorbed spontaneously at most of the time. However, it sometimes can be accompanied with severe intracranial lesion which may ultimately lead to death. The aim of this study is to know when the CT and/or MRI study is useful by analyzing the risk factors for intracranial lesion associated with cephalohematoma in newborn. METHODS: From January 2006 to December 2010, 162 infants diagnosed with cephalohematoma were studied retrospectively. We examined the demographic and clinical data, and also examined the reasons for neuroimaging studies with CT/MRI findings. The risk factors for intracranial lesion associated with cephalohematoma were analyzed by uni- and multivariate analysis as well. RESULTS: Among 162 patients, many were groups of normal birth weight, first-born, singlet or vaginally delivered newborns. Of these patients, 13.6% had neurologic symptoms, 4.1% had other birth injuries, and 1.2% died with associated intracranial lesion. Parietal region was the commonest site and most were greater than 3 cm in diameter. Simple skull X-ray was performed in 56.8% and CT/MRI in 28.4%. Giant hematoma and neurologic symptom were the two common reasons for requesting CT/MRI. Intracranial lesions such as hemorrhage, hypoxic-ischemic encephalopathy, and infarction were shown in almost two thirds of patients who performed CT/MRI. Multivariate analysis showed that significant risk factors were being first-born, having large size hematoma (> or = 5 cm) or having seizure. CONCLUSION: CT and/or MRI is recommended in cephalohematoma of newborn, especially for first-born baby with large size hematoma (> or = 5 cm) or seizure.