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Pulmonary alveolar proteinosis (PAP) is a rare disease in children characterized by intra-alveolar accumulation of surfactant proteins, which severely reduces gaseous exchange. Whole lung lavage (WLL) is the preferred technique for the treatment of severe PAP. Herein, we present a pediatric case of PAP treated with WLL. An 11-year-old boy was admitted with the chief complaint of a dry cough lasting 6 months. He developed symptoms of dyspnea on exertion and had difficulty in climbing stairs. He was ultimately diagnosed with PAP through video-assisted thoracoscopic lung biopsy. As first-line of treatment for PAP, he underwent therapeutic WLL for each of his lungs on separate days. After a brief recovery, his symptoms gradually worsened; therefore, he underwent a second WLL. This is the first pediatric case of PAP relapse despite successful WLL in Korea.

Purpose: This study was performed to demonstrate the usefulness of early endoscopy for predicting the development of stricture following corrosive ingestion in children. Methods: We conducted a retrospective study on 34 children who were brought to Seoul National University Childrens Hospital and Seoul National University Bundang Hospital for corrosive ingestion from 1989 to 2007. Results: The corrosive burns were classified as grade 0 in 8 patients, grade 1 in 2, grade 2a in 7, grade 2b in 13, and grade 3 in 4. There was no significant correlation between the presence of esophageal injury and symptoms including vomiting, dysphagia, and drooling. There was a statistically significant relation between the presence of oropharyngeal injury and esophageal injury (P=0.014). There were no complications including hemorrhage and perforation related to endoscopy. Strictures of the esophagus or the stomach developed in 12 patients (36.4%). Esophageal stricture was observed in 11 patients and pyloric stenosis in 1 patient. The endoscopic grade of mucosal injury was significantly related to the frequency of development of esophageal stricture (P=0.002). Two of eleven patients with esophageal stricture responded to repeated dilation. The remaining seven patients underwent surgery. Conclusion: Early esophagogastroduodenoscopy is not only a safe and useful diagnostic tool for children with accidental caustic ingestion but also a necessity for determining the degree and the extent of caustic burns and for predicting the development of late complications. (Korean J Pediatr 2009;52:446-452)

=Abstract= Autoimmune hepatitis (AIH), primary sclerosing cholangitis (PSC), and primary biliary cirrhosis (PBC) are chronic autoimmune liver diseases. Overlap syndrome is defined as a condition in which the clinical, biochemical, and histological features of these autoimmune diseases are overlapped. Thus, it is difficult to appreciate overlap syndrome as an actual diagnostic entity. Only a few cases of the overlap syndrome of AIH and PSC have been reported, especially in children. Moreover, PSC is known to be the most frequent liver disorder associated with inflammatory bowel diseases such as ulcerative colitis. We report one case of AIH-PSC overlap syndrome in a child who was diagnosed as having ulcerative colitis.(Korean J Pediatr 2009;52:504-507)

Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time.

Crohn disease (CD) is rare, but the incidence of CD has been increasing over the past ten years. We found two cases of CD, associated with myelodysplastic syndrome (MDS), for the first time in children. In the first patient, MDS was diagnosed at three years of age and CD developed later at eight years of age. The patient presented with recurrent abdominal pain, diarrhea, bloody stools and failure to thrive. Colonoscopy revealed cobble stone like mucosa and mass like lesions with superficial ulceration and inflammatory exudates, observed from the cecum to ascending colon. Ileo-cecal biopsy samples showed ulcers with skipped areas and lymphoid infiltrations. The patient was started on treatment with mesalazine and deflazacort, and symptoms remitted. In the second patient, MDS was diagnosed at nine years of age and CD developed at 13 years of age. This patient has recurrent hematochezia, abdominal pain, vomiting and fever. Colonoscopy revealed a large, deep indurative ulceration on the cecal side of the ileo-cecal valve. Ileocecectomy was done, and histology revealed ulceration with transmural inflammation and lymphoid aggregates. Symptoms improved after ileocecectomy.

Neurofibromatosis type 1 (von Recklinghausen disease, NF1) involves the central and peripheral nervous systems as well as the skin, bone, endocrine, gastrointestinal and vascular systems. The gastrointestinal neurofibroma associated with NF1 has been infrequently reported. We report our experience with a 15-year-old boy who had a gastric plexiform neurofibroma with upper gastrointestinal bleeding and underwent a tumorectomy because of massive upper gastrointestinal bleeding. We conclude that gastrointestinal bleeding and anemia in the setting of NF1 mandates complete endoscopic examination of the digestive tract to rule out neurofibromas. Surgical resection is the standard treatment.