Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease, which is characterized by electrolyte absorption defect due to impaired function of the Cl-/HCO3 - exchanger in the ileum and the colon. Its main features are profuse watery diarrhea, high fecal chloride concentration, and failure to thrive. Profuse watery diarrhea characterized by a high concentration of chloride in stools results in hypochloremia, hyponatremia, and dehydration with metabolic alkalosis. Early detection and therapeutic intervention can prevent life-threatening symptoms of CCD and growth failure. Recently, several therapies, such as proton pump inhibitors and butyrate, have been suggested for amelioration of diarrhea. Here, we report a case of CCD in a preterm male infant who was successfully treated with an oral proton pump inhibitor.

Esthesioneuroblastoma in a boy with 47, XYY karyotype / 소아과

Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma. Nuclear imaging revealed increased uptake in both the right posterior nasal cavity and the right cervical IB-II space, suggesting metastatic lymph nodes. Cytogenetic analysis revealed a 47, XYY karyotype. Twelve courses of concurrent chemotherapy were administered. Three years after the completion of chemotherapy, the patient had had no disease recurrence. He manifested behavioral violence and temper tantrums, so we started methylphenidate for correction of the behavior.

Prediction of Neurodevelopmental Outcome in Hypoxic Ischemic Encephalopathy at 12 Months: Correlation of Brain MRI and EEG / 대한주산의학회잡지

PURPOSE: The aims of this study were to estimate the neurodevelopmental outcome of hypoxic-ischemic encephalopathy (HIE) at 12 months, and determine the usefulness of brain magnetic resonance imaging (MRI) and electroencephalography (EEG) to predict neurodevelopmental outcome in term infants with HIE at 12 months. METHODS: This study was conducted retrospectively on term infants with HIE from January 2009 to June 2013. Based on neurodevelopmental outcome at 12 months, infants were categorized into 2 groups. Brain MRI and EEG findings were stratified into 4 categories as normal, mild, moderate and severe groups. RESULTS: Total 42 term infants were enrolled. Fifty seven point one percent (24/42) of total infants had favorable neurodevelopmental outcome at 12 months (favorable outcome, n=24). Thirty eight point one percent (16/42) of total infants had significant neurodevelopmental deficit at 12 months of age, and 4.8% (2/42) had mortality within 12 months (poor outcome, n=18). In brain MRI and EEG findings, there were significant correlations with neurodevelopmental outcome. Brain MRI showed sensitivity of 88.9%, specificity of 70.8%, positive predictive value of 69.6% and negative predictive value of 89.5%, while EEG showed sensitivity of 70.6%, specificity of 82.6%, positive predictive value of 75%, and negative predictive value of 79.2%. In the multivariate analysis, moderate-to-severe findings in brain MRI were the strongest risk factor (odds-ratio, 11.24; 95% confidence interval, 1.36-92.89; P=0.025). CONCLUSION: Forty two point nine percent of total infants had poor neurodevelopmental outcome at 12 months. Brain MRI and EEG findings were correlated with neurodevelopmental outcome of term infants with HIE at 12 months.