Online Exclusives
Spontaneous rupture of an advanced pancreatoblastoma: Aberrant RASSF1A methylation and CTNNB1 mutation as molecular genetic markers
Pancreatoblastoma is a rare pancreatic tumor that is most commonly encountered in infants and young children. This report describes an unusual presentation of a large pancreatic body pancreatoblastoma presenting with intraabdominal bleeding due to spontaneous rupture of the tumor in a 5-year-old boy. Subsequent molecular analysis from the resected specimen identified a mutation in CTNNB1 and aberrant methylation of the tumor suppressor RASSF1A.Meconium pseudocyst with particular pathologic findings: a case report and review of the literature
Meconium peritonitis is a sterile chemical peritonitis caused by bowel perforation with intraperitoneal extravasation of the meconium in utero. When the inflamed intestinal loops become fixed, meconium peritonitis leads to a cystic cavity with a fibrous wall, and the result is termed cystic-type meconium peritonitis. On the contrary, a meconium pseudocyst has a muscle layer continuous with the normal intestine and is distinguished from cystic-type meconium peritonitis based on the histopathologic findings.Disorders of interstitial cells of Cajal in a neonate with segmental dilatation of the intestine
Localized myopathy of the muscular layers may be an important factor contributing to segmental dilatation of the intestine (SDI). Only one report has described SDI of the jejunum in a neonate showing no abnormality of the interstitial cells of Cajal (ICC). The present report describes the very rare case of a neonatal girl with segmental dilatation of the distal duodenum and proximal jejunum with irregular arrangements of Auerbach's plexus and ICC and the successful surgical treatment of SDI. We review the literature on this type of relationship between abnormality of ICC and SDI and discuss the clinical features of this complication.Pediatric alveolar echinococcosis invading the diaphragm and spreading to the chest and abdominal wall
Hepatic alveolar echinococcosis (AE) is an endemic disease in certain parts of the world and relatively rare in children. This report describes a 9-year-old girl with hepatic AE invading the diaphragm and directly spreading to the chest and abdominal wall. She was treated by surgical extirpation and albendazole therapy. In advanced hepatic AE, combined therapy of surgical and medical intervention is thought to improve the prognosis.Idiopathic thrombocytopenic purpura complicated with biliary atresia: a rare occurrence and literature review
The association of biliary atresia (BA) and idiopathic thrombocytopenic purpura (ITP) is extremely rare, with only 2 cases being reported in the literature. This report describes the very rare case of a 1-year-old boy with BA complicated with ITP after cholangitis and the successful steroid treatment of ITP. We review the literature on this type of relationship between BA and ITP and discuss the clinical features of this complication. Furthermore, the possible cause of the onset of ITP complicated with BA was explored in this report.Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review
The L1 cell adhesion molecule (L1CAM) protein is found primarily in the nervous system and is important in neuronal adhesion, migration, neurite outgrowth, and myelination. It is extremely rare that Hirschsprung's disease (HSCR) merges with a disorder showing abnormality of the L1CAM genes such as acrocallosal syndrome (ACS) or X-linked hydrocephalus (XLH). Herein, we report 2 cases—the first showed abnormality of the L1CAM genes and developed HSCR; and the second, with clinically suspected XLH, was successfully operated on for HSCR.Focal nodular hyperplasia of the liver: usefulness of superparamagnetic iron oxide–enhanced magnetic resonance imaging
This report describes the use of superparamagnetic iron oxide–enchanced magnetic resonance imaging to diagnose fibronodular hyperplasia of the liver in a 12-year-old girl.
