Clinical features and risk factors of bile duct perforation associated with pediatric congenital biliary dilatation.

PURPOSE: This study aimed to investigate the clinical features and risk factors of bile duct perforation in pediatric congenital biliary dilatation (CBD) patients. METHODS: CBD patients, whose initial symptom was abdominal pain, were enrolled in this study and were divided into perforated and non-perforated groups. The clinical features of the perforated group were investigated. Moreover, the age at operation, sex, and morphologic features of the extrahepatic bile duct were compared between the groups. RESULTS: Fifteen cases of bile duct perforation (10.4%) were identified among the 144 CBD patients who had abdominal pain. Majority of bile duct perforation occurred in patients aged < 4 years. The median duration from onset of abdominal pain to bile duct perforation was 6 (4-14) days. Age at onset [< 4 years old; P = 0.02, OR 13.9, (1.663, 115.3)], shape of extrahepatic bile duct [non-cystic type; P = 0.009, OR 8.36, (1.683, 41.5)], and dilatation of the common channel [P = 0.02, OR 13.6, (1.651, 111.5)] were risk factors of bile duct perforation. CONCLUSIONS: Emergent bile duct drainage might be planned to prevent bile duct perforation if CBD patients have the abovementioned risk factors and experience persistent abdominal pain lasting for a few days from onset.

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features.

The 20q11.2 microdeletion is a rare chromosomal aberration characterized by intellectual disability (ID), motor developmental delay, neonatal feeding problems, and facial dysmorphism. Here, a 2-year- and 6-month-old Japanese girl with a 1.2 Mb microdeletion of 20q11.2 showed ID, motor developmental delay, and distinctive facial features without feeding problems. The deleted region was identified by array-based comparative genomic hybridization and is the smallest reported for a 20q11.2 microdeletion.

Predictive factor for intraoperative tumor rupture of Wilms tumor.

PURPOSE: For Wilms tumor, intraoperative tumor rupture with wide tumor spillage during surgical manipulation raises the classification to stage 3. Then, postoperative chemotherapy must be more intensive, and abdominal radiotherapy is added. Therefore, intraoperative tumor rupture should be avoided if possible. However, predictive factors for intraoperative tumor rupture have not been sufficiently described. Here we examined the risk factors for intraoperative tumor rupture. METHODS: Patients with Wilms tumor who underwent treatment according to the National Wilms Tumor Study or the Japanese Wilms Tumor Study protocol at our institution were reviewed retrospectively. Collected cases were categorized into two groups: the ruptured group and the non-ruptured group. Risk factors for intraoperative tumor rupture, including the ratio of the tumor area to the abdominal area in a preoperative single horizontal computed tomography slice (T/A ratio), were investigated in both groups. RESULTS: The two groups were not different in age, body weight, tumor laterality, sex, or histological distribution. The T/A ratio in the ruptured group was significantly higher than that in the non-ruptured group. Receiver operating characteristic curve analysis identified a discriminative value for a T/A ratio >0.5. CONCLUSION: The T/A ratio can be a predictive factor for intraoperative tumor rupture of Wilms tumor.