A Case of Congenital Megacystis Due to Non-Obstructive Urinary Retention Associated with Intestinal Malrotation and Hypoperistalsis / 소아과

Congenital megacystis with bilateral hydroureteronephrosis is most commonly associated with posterior urethral valves, prune-belly syndrome, vesicoureteral reflux, or nonrefluxing, nonobstructive megaureters. Among the other cause of congenital megacystis, megacystis-microcolon-intestinal hypoperistalsis syndrome(MMIHS), which is characterized by megacystis, microcolon and hypoperistalsis of the intestines with resultant abdominal distension, is a rare cause of functional obstruction of urinary tracts in childhood. It was first reported by Berdon, et al. in 1976, and only 89 cases have been reported until the present. There has been no report in Korea. We report a 2 month old female patient who exhibited intestinal malrotation, megacystitis, abdominal distension and hypoperistalsis. She did not show any evidence of microcolon, but her biopsy result exhibited degenerative changes of intestinal and cystic smooth muscle, pointing to a syndrome very similar to MMIHS.

A Case of Robinow Syndrome(Fetal Face Syndrome) Associated with Cranium Bifidum / 대한소아신경학회지

Robinow syndrome is a rare inherited disorder initially reported by Robinow et al. in 1969 as a new dwarfing syndrome. It is characterized by the presence of fetal face, forearm shortening, genital hypoplasia, and hemivertebrae. The autosomal recessive form of Robinow syndrome shows a more severe clinical phenotype which is expressed by the mutation of homozygous ROR2(Receptor tyrosine kinase like Orphans) gene, mapped to the chromosome 9q22, a region that overlaps the locus for autosomal dominant inherited brachydactyly type B(BDB). ROR2 encodes the receptor tyrosine kinase, which is important for the development of mesomelic long bones. We experienced a boy diagnosed as a Robinow syndrome with fetal face(frontal bossing, hypertelorism, small up-turned nose, triangular mouth with down turned angles, micrognathia), large anterior fontanelle, cranium bifidum, mesomelic shortening, cryptorchidism. We present this case with a brief review of related literature.

Cross-reactivity between Hen's Egg from Goose, Duck and Domestic Birds in Children with Egg Allergy / 소아알레르기및호흡기학회지

PURPOSE: Birds' eggs have been a major source of food for mankind since the time unknown. Among them, chicken eggs have been the most important food source. We examined the allergenic properties of eggs from varying birds on patients with known allergy to chicken eggs, to find out whether they can replace the chicken eggs for the source of nutrient. METHODS: Samples were selected from patients who visited the allergy clinic of the Department of Pediatrics at Yonsei University Medical Center. The serum specific IgE for eggs were measured and allergy skin tests were performed. The serum of the patients with proven egg allergy was then tested for reactivity with eggs from wild and domestic ducks, geese, seagulls, quails, yellow-shelled and white-shelled eggs employing SDS-PAGE and IgE immunoblotting. RESULTS: All the egg protein showed similar molecular sizes ranging from 24-100 kDa. Their expressions, however, were different, with white eggs, yellow eggs, and quail eggs showing strong reaction, while ducks, geese, and mallard eggs presented with weak reaction. Immunoblotting exhibited reactivity in 35-50 kDa and 25-35 kDa groups. Quail eggs and shells from chicken eggs showed a protein banding of 75-80 kDa. Geese, wild and domestic ducks, quail did not exhibit any cross-reactivity with chicken eggs. CONCLUSION: Among patients with egg allergy, cross-reactivity between different chicken eggs was present, but no cross-reactivity was apparent between chicken eggs and other birds' eggs. Therefore, we suggest theses eggs as alternative source of food in patients with egg allergy. However further study with larger patient population is still required.