Ruptured Cystic Artery Pseudoaneurysm as a Rare Cause of Massive Hemobilia / 대한췌담도학회지

Gastrointestinal bleeding from the biliary tree, called hemobilia, is an uncommon event. It may clinically present as hematemesis or melena. Ruptured cystic artery pseudoaneurysm is a rare cause of hemobilia, with 2 cases reported in Korea. We present this unusual condition in a 65-year-old man whose chief complaint was abdominal pain. His final diagnosis was ruptured cystic artery pseudoaneurysm, and he was successfully treated by transcatheter arterial embolization and laparoscopic cholecystectomy.

A Case Report of Glucose Transporter 1 Deficiency Syndrome with a Novel Splice Site Mutation (SLC2A1: c.680-2delA) / 대한소아신경학회지

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by impaired glucose transport across the blood-brain barrier (BBB) and characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and a low cerebrospinal glucose concentration (hypoglycorrhachia). A diagnosis of GLUT1-DS is biochemically established in neurologically impaired patients with hypoglycorrhachia in the normoglycemia. GLUT1-DS can be confirmed by mutation analysis of the solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) gene or reduced 3-O-methyl-D-glucose uptake into erythrocytes. The patient was a 12-year-old boy born at term. He had experienced seizures from 4 months of age. Electroencephalography (EEG) did not show epileptiform activity. Brain magnetic resonance imaging (MRI) revealed mild diffuse cortical atrophy and ventricular dilatation. Furthermore, he showed developmental delay, mental retardation, and ataxia, which all became more apparent with age progression. For 7 years, he had experienced paroxysmal episodes of atonic behavioral changes that were aggravated before meals or when he became tired. When he was 12 years old, cerebrospinal fluid (CSF) analysis revealed a low glucose concentration in the normal serum glucose and lactate levels. Under the impression of GLUT1-DS, mutation analysis of the SLC2A1 gene by direct sequencing was performed using white blood cells, and c.680-2delA of intron 5 was found. We describe a GLUT1-DS patient with a typical natural history of GLUT1-DS through a long term follow-up visits, with a novel splice site mutation (SLC2A1: c.6802delA).

A Clinical Study on Hereditary Hemoglobinopathy: a Single Institute Experience / 임상소아혈액종양

BACKGROUND: Hemoglobinopathy is inherited anemia characterized by abnormal structure of one of the globin chains of the hemoglobin molecule and has been known to be rare in Korea. However, hemoglobinopathy in children has been reported more frequently than in past with the recent advancement of molecular testing. The purpose of this study was to investigate the clinical and laboratory findings, prevalence and complications of hemoglobinopathy of children.METHODS: Data of pediatric patients diagnosed with hemoglobinopathy from 2002 to February 2014 at Ajou University Hospital were surveyed. We analyzed patients' characteristics from clinical and laboratory findings retrospectively.RESULTS: Among a total of 10 children who were diagnosed with hemoglobinopathy, 9 patients were confirmed hemoglobinopathy by gene analysis. Eight patients had beta thalassemia, 1 hemoglobin D disease, and 1 hemoglobin Koriyama. In most of the children, anemia was found incidentally and most of the children did not have symptoms. In the initial blood test, their mean hemoglobin concentration was 10.0 g/dL (range: 4.7-11.2 g/dL), mean corrected reticulocyte count was 3.9% (range: 0.9%-12.2%), and mean total bilirubin level was 1.0 mg/dL (range: 0.3-5.8 mg/dL).CONCLUSION: The analysis of clinical and laboratory features showed that the characteristics of each type of hemoglobinopathy were similar to that previously reported. We recommend considering hemoglobinopathy if pediatric patient presents with hemolytic anemia. A well organized diagnostic approach including molecular genetic analysis is needed for accurate diagnoses and appropriate management of hemoglobinopathy.

A Clinical Study on Hereditary Hemoglobinopathy: a Single Institute Experience / 임상소아혈액종양

BACKGROUND: Hemoglobinopathy is inherited anemia characterized by abnormal structure of one of the globin chains of the hemoglobin molecule and has been known to be rare in Korea. However, hemoglobinopathy in children has been reported more frequently than in past with the recent advancement of molecular testing. The purpose of this study was to investigate the clinical and laboratory findings, prevalence and complications of hemoglobinopathy of children. METHODS: Data of pediatric patients diagnosed with hemoglobinopathy from 2002 to February 2014 at Ajou University Hospital were surveyed. We analyzed patients' characteristics from clinical and laboratory findings retrospectively. RESULTS: Among a total of 10 children who were diagnosed with hemoglobinopathy, 9 patients were confirmed hemoglobinopathy by gene analysis. Eight patients had beta thalassemia, 1 hemoglobin D disease, and 1 hemoglobin Koriyama. In most of the children, anemia was found incidentally and most of the children did not have symptoms. In the initial blood test, their mean hemoglobin concentration was 10.0 g/dL (range: 4.7-11.2 g/dL), mean corrected reticulocyte count was 3.9% (range: 0.9%-12.2%), and mean total bilirubin level was 1.0 mg/dL (range: 0.3-5.8 mg/dL). CONCLUSION: The analysis of clinical and laboratory features showed that the characteristics of each type of hemoglobinopathy were similar to that previously reported. We recommend considering hemoglobinopathy if pediatric patient presents with hemolytic anemia. A well organized diagnostic approach including molecular genetic analysis is needed for accurate diagnoses and appropriate management of hemoglobinopathy.

US Findings of Biceps Tendinitis: Cross Sectional Area Measurements of Long Head of Biceps Brachii

PURPOSE: The purpose of this study was to describe typical sonographic findings in patients with biceps tendinitis. MATERIALS AND METHODS: Seventy five patients who had been clinically diagnosed with biceps tendinitis were included. Of the 75, 37 were male, 38 were female, and their mean age was 56 +/- 9.74. The patients complained of shoulder pain and ultrasonography was performed for bilateral shoulders in all patients. The cross sectional area of the biceps tendon was measured. The status of fluid collection around the biceps tendon and accompanying rotator cuff disease were also investigated. RESULTS: The cross sectional areas of the diseased biceps tendon were 0.18 +/- 0.09 cm2 (range: 0.07-0.42), and the areas of the normal side was 0.11 +/- 0.05 cm2 (0.03-0.24). The cross sectional area of the diseased biceps tendon was 0.075 +/- 0.062 cm2 greater, on average, than the uninvolved site (p < 0.01). Thirty six patients (48%) had fluid collection around the inflamed biceps tendon, and 30 patients had accompanied rotator cuff disease. CONCLUSIONS: During US examination of the shoulder in patients complaining of shoulder pain, if the cross sectional area of the biceps tendon in the painful shoulder is asymmetrically and larger than the contralateral tendon, biceps tendonitis is suggested.