Liver transplantation in a child with acute liver failure resulting from drug rash with eosinophilia and systemic symptoms syndrome / 소아과

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by a severe idiosyncratic reaction including rash and fever, often with associated hepatitis, arthralgias, lymph node enlargement, or hematologic abnormalities. The mortality rate is approximately 10%, primarily owing to liver failure with massive or multiple disseminated focal necrosis. Here, we report a case of a 14-year-old girl treated with vancomycin because of a wound infection by methicillin-resistant Staphylococcus aureus, who presented with non-specific symptoms, which progressed to acute liver failure, displaying the hallmarks of DRESS syndrome. With the presence of aggravated hepatic encephalopathy and azotemia, the patient was refractory to medical treatments, she received a living-donor liver transplantation, and a cure was achieved without any sign of recurrence. Vancomycin can be a cause of DRESS syndrome. A high index of suspicion and rapid diagnosis are necessary not to miss this potentially lethal disease.

Three Dimensional Study on the Postoperative Stability after Advancement of Maxilla Using Le Fort I Osteotomy

0.05). In transverse plane, the distance between S1-S0 of PNS was -3.87+/-2.37 mm, S2-S0 of PNS was -3.79+/-2.39 mm, and S1-S2 of PNS was -0.08+/-0.18 mm. There were significant differences between these data (P<0.05). In coronal plane, the distance between S1-S0 of A-point was 3.99+/-0.86 mm, S2-S0 was 3.57+/-1.09 mm, and S1-S2 was 0.42+/-0.42 mm. There were significant differences between these data (P<0.05). In coronal plane, the distance between S1-S0 of PNS was 3.82+/-0.96 mm, S2-S0 was 3.43+/-0.91 mm, and S1-S2 was 0.39+/-0.49 mm. There were significant differences between these data (P<0.05). In transverse plane, it was estimated that PNS has no statistical postoperative stability in the same direction. In coronal plane, it was estimated that both A-point and PNS had no statistical postoperative stability (P<0.05).CONCLUSION: Clinically, the operation plan needs to take into account of the maxillary relapse.

Tumor Necrosis Factor-alpha Gene Polymorphisms in Korean Children with Inflammatory Bowel Disease / 대한소아소화기영양학회지

PURPOSE: The aim of this study was to investigate the existence of TNF-alpha polymorphisms in Korean children with Crohn's disease (CD), ulcerative colitis (UC), as compared to healthy controls. METHODS: Blood samples were obtained from 40 patients with CD, 14 patients with UC, and 30 healthy controls. Genotyping for 5 TNF-alpha polymorphisms (G238A, G308A, C857T, C863A, and T1031C) was performed. The allele frequencies for the inflammatory bowel diseases, CD and UC, were measured in patients with these disease and in healthy controls, and these allele frequencies were compared between the 3 groups. We examined the significant association between polymorphism and disease phenotype, such as location, behavior, perianal disease, and pediatric Crohn's activity index (PCDAI) in CD. RESULTS: Based on our findings, the TNF-alpha allele frequencies of G238A, G308A, C857T, C863A, and T1031C were 3.3, 8.3, 16.7, 16.7, 21.7% in healthy control, 2.5%, 7.5%, 18.8%, 20.0%, 22.5% in CD, 7.1%, 7.1%, 7.1%, 21.4%, 28.6% in UC. They were no statistically significant differences between the 3 groups. There were no associations between genotypes and phenotypes in CD, except a statistically significant higher allele frequency of G238A in ileal type (L1) disease (p=0.010). CONCLUSION: Our results indicate that 5 TNF-alpha polymorphisms do not seem to be associated with susceptibility to inflammatory bowel disease in Korean pediatric patients even though young patients were anticipated to have a stronger genetic affiliation for these diseases than adult patients. We think that further studies are needed to find those genes associated with susceptibility to CD and UC in Korean pediatric patients with inflammatory bowel disease.

Adrenocortical Carcinoma in a Patient with Congenital Adrenal Hyperplasia / 대한소아내분비학회지

Adrenocortical carcinoma is a very rare condition in childhood. There are only a few reports about adrenocortical carcinomas associated with congenital adrenal hyperplasia. A two-month-old male baby presented at the local clinic with skin hyperpigmentation, dehydration, hyponatremia, and hyperkalemia. He was diagnosed with congenital adrenal hyperplasia and had been treated with hydrocortisone and 9alpha-fludrocortisone until 1 year of age. At age 5.8 years, he visited an outpatient clinic because of tall stature and secondary sexual characteristics, and hydrocortisone was administered. At age 16 years he was admitted for treatment of an adrenal tumor, incidentally detected during the evaluation of hematuria. Serum adrenocorticotrophic hormone and cortisol levels were 33.5 pg/mL and 5.2 microg/dL, respectively. 17alpha-hydroxyprogesterone level was 6.3 ng/mL and dehydroepiandrosterone sulfate level was 31.2 microg/dL. Abdominal ultrasonography and computed tomography revealed a solid mass of 7.7 x 5.6 x 6.2 cm in the left adrenal gland. It was totally removed by surgery, and the histopathology was compatible with adrenocortical carcinoma.

A Case of Classical Galactosemia caused by Compound Heterozygous Mutations of the GALT Gene

Classical galactosemia is an autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Buildup of galactose-1-phosphate is toxic at high levels and can damage the liver, brain, eyes, and other vital organs. The case presented here was that of an 11-day-old female infant who had elevated galatose levels upon initial neonatal screening test with persistent cholestatic jaundice, coagulopathy, and hepatomegaly. The patient was transferred due to aggravation of clinical symptoms including bleeding and jaundice. She had a delayed galactose free diet because of an inappropriate diagnosis. We quickly provided her with a lactose/ galactose-restricted diet as per her final diagnosis. Clinical and laboratory results were improved after a few days of treatment. For confirmatory testing for classical galactosaemia, we simultaneously analyzed for GALT enzyme activity and allele-specific PCR/fragments for seven mutations and two polymorphisms in the GALT gene. We were able to find several GALT-deficient and compound heterozygous mutations of the GALT gene.