Long-term follow-up of Fanconi anemia: clinical manifestation and treatment outcome / 소아과

PURPOSE: The aim of this study was to characterize Korean patients with Fanconi anemia (FA), which is a rare but very challenging genetic disease. METHODS: The medical records of 12 FA patients diagnosed at Chonnam National University Hospital from 1991 to 2012 were retrospectively reviewed. RESULTS: The median age at diagnosis was 6.2 years. All patients showed evidence of marrow failure and one or more physical stigmata. Chromosome breakage tests were positive in 9 out of 11 available patients. The median follow-up duration was 69.5 months. The Kaplan-Meier (KM) survival of all patients was 83.3% at 10 years and 34.7% at 20 years, respectively. Seven patients underwent 9 stem cell transplantations (SCTs). Among them, 5 were alive by the end of the study. Ten-year KM survival after SCT was 71.4% with a median follow-up of 3.4 years. All 5 patients treated with supportive treatment alone died of infection or progression at the median age of 13.5 years, except for one with short follow-up duration. Acute leukemia developed in 2 patients at 15.4 and 18.1 years of age. Among 6 patients who are still alive, 3 had short stature and 1 developed insulin-dependent diabetes mellitus. CONCLUSION: We provide information on the long-term outcomes of FA patients in Korea. A nation-wide FA registry that includes information of the genotypes of Korean patients is required to further characterize ethnic differences and provide the best standard of care for FA patients.

Transient Complete Atrioventricular Block in a Preterm Neonate with Congenital Myotonic Dystrophy: Case Report

Congenital myotonic dystrophy (CMD) is an inherited neuromuscular disorder with cardiac rhythm abnormalities that may occur as a child grows. No report has described complete atrioventricular (AV) block detected in a neonate with CMD. We report a floppy infant of 31(+4) weeks gestation with complete AV block at birth, who was diagnosed with CMD by Southern analysis. She recovered from complete AV block 32 hr after temporary transcutaneous pacing was applied. To the best our knowledge, this is the first recorded case of a complete AV block accompanied by CMD during the neonatal period. When a newborn has a complete AV block, the physician should consider the possibility of the CMD and conduct a careful physical examination.

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea / 소아과

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

Sedative Effect of Chlorpheniramine in Children Failed to sedate with Chloral hydrate and Midazolam / 대한소아신경학회지

PURPOSE: To evaluate the sedative effect of add-on chlorpheniramine in children with neurologic diseases failed to sedate with chloral hydrate and midazolam. METHODS: Thirty three patients who had not been successfully sedated with oral chloral hydrate and intravenous midazolam for diagnostic examinations were attempted for sedation with intravenous chlorpheniramine at Chonnam National University Hospital from September 2007 to September 2012. The sedative effects were compared on the aspects of age, sex, body weight, dosage of drug and underlying neurologic conditions with the retrospective review of medical records. RESULTS: Among 33 patients, 26(78.7%) were successfully sedated and 7(24.2%) failed to sedate. The success rates were different by age and were decreased with age: 100%(0-4y), 84.6%(5-9y), 50%(10-14y). The effectiveness of chlorpheniramine was not significantly different in terms of ages, sex, body weight, dosage of drug and the underlying neurologic conditions-developmental delay, seizures or organic brain lesions. Children with ADHD(attention-deficit hyperactivity disorder), however, showed a significantly lower success rate than the non-ADHD patient group (28.5%, P=0.002). No serious side effects were reported except for one case with transient perioral cyanosis. CONCLUSION: Chlorpheniramine appeared highly effective in children with neurologic diseases who had not been sedated with chloral hydrate and midazolam. The efficacy seemed to be higher in the younger age groups and lower in children with ADHD.

The Relationship between Gastric Juice Nitrate/Nitrite Concentrations and Gastric Mucosal Surface pH

PURPOSE: To investigate gastric juice nitrate/nitrite concentration according to mucosal surface pH extent (area) of gastric corpus intimately contacting the gastric juice. MATERIALS AND METHODS: We included ninety-nine patients with dyspepsia. To evaluate gastric mucosal surface pH and its extent, gastric chromosocpy was performed by spraying phenol red dye on the corpus mucosa and estimating the extent of area with color changed. Nitrate/nitrite concentrations and pH of gastric juice were measured by ELISA and pH meter, respectively. Silver staining was done to histologically confirm the presence of Helicobacter pylori. RESULTS: Intragastric nitrate/nitrite concentrations in patients, showing phenol red staining mucosa were higher than those of unstaining mucosa (p=0.001): the more extensive in the area of phenol red staining area of corpus, the higher gastric juice pH found (r=0.692, p<0.001). Furthermore, the intragastric nitrate/nitrite concentrations correlated positively with gastric juice pH (r=0.481, p<0.001). CONCLUSION: The changes of mucosal surface pH and its extent in gastric corpus might affect either pH or nitrate/nitrite level of gastric juice.

True cyst of the spleen: two cases report

No abstract available.

Benign Teratomas of the Fallopian Tubes: A report of two cases

Teratomas of the fallopian tubes are very rarely encountered in the western literature, and not a single case has been documented in Korea. The authors experienced two cases of tubal teratomas. Both patients developed a teratoma in an ampullary portion of the right fallopian tubes. One case occured as an incidental finding, and the other case was presented with a tubal mass. The gross and light microscopic features of these teratomas were described, and a brief review of the literature on the tubal teratomas is made.

Gastric Duplication

Gatric duplication is a rare congenital anomaly. Thus for about 90 cases of gastric duplication have been recorded in the literature. It is less frequent than small intestinal or eosphageal duplication, and accounts for only 3.8% of all gastrointestinal tract duplication. Most gastric duplications are seen during the first year of life. Palpable abdominal mass and gastric outlet obstruction in infancy are most common presentation. We experienced a case of non-communicating gastric duplication. A 12-year-old girl visited St. Mary's Hospital because of indigestion, intermittent vomiting, and left upper quandrant pain for about 40 days. She have had intemittent abdominal pain with concomitant increased level of amylase since 5 years old. Physical examination showed a hen's egg sized palpable mass on left upper quadrant of the abdomen. Upper GI series and barium enema revealed only indentation of duodenal C-loop, and sonogram and abdominal CT demonstrated isolated cystic mass along the greater curvature of gastric antrum. She had taken an operation under the impression of pancreatic pseudocyst. Operation revealed a cystic mass, located along the greater curvature. There was no pathologic change in the pancreas. Microscopic findings of the cyst wall revealed normal gastric mucosal lining and common muscle layer, shared with gastric antral muscle layer.

Hibernoma: A case report

Hibernoma is very rarely encountered and is expressed in the various names including "lipoma of brown fat", "fetal lipoma", and "lipoma of embryonic fat". In our knowledge, only about 50 cases have been reported in the literature of the Western world, and no case reports have been published in Korea. In May 1986, we experienced a case of hibernoma occuring in a 16 old years boy. On physical examination, a relatively well defined nodule was noted on the right scapular region. A total removal of the lesion was done under the clinical diagnosis of epidermal inclusion cyst. On gross examination, the specimen consists of three irregularly shaped portions of yellowish brown soft tissue, measuring up to 0.8 cm in greatest dimension. Microscopically, the tumor showed distinct lobular pattern separated by fibrovascular bands. The lobules were composed of multivacuolated or eosinophilic granular cells showing centrally located small unclei. A brief review of the literature was done.