The longitudinal effect of oxcarbazepine on thyroid function in children and adolescents with epilepsy.

OBJECTIVE: Thyroid hormone abnormalities have been linked to antiseizure medications (ASMs). Oxcarbazepine is considered safer than carbamazepine because it induces the hepatic cytochrome P450 metabolic enzymes less than the carbamazepine does. However, limited data exist for the influence of oxcarbazepine on thyroid function in children and adolescents. The objective of this study was to determine the effect of oxcarbazepine on thyroid function in these patients. METHODS: A total of 162 pediatric patients with epilepsy who started oxcarbazepine for the first time between April 2003 and May 2020 were enrolled. The longitudinal effects of oxcarbazepine for thyroid functions were confirmed using general estimating equations. RESULTS: Serum triiodothyronine (T3), thyroxine (T4), and free thyroxine (fT4) levels decreased significantly during 5 years of follow-up (all p's < .001). In particular, T3 and fT4 levels were reduced steeply in the first 2 years of oxcarbazepine treatment. There was no significant change in thyroid-stimulating hormone during oxcarbazepine treatment. SIGNIFICANCE: Serum T3, T4, and fT4 levels decreased significantly during oxcarbazepine use, and this change was maintained during the treatment period. In patients receiving oxcarbazepine, it is recommended that periodic thyroid function testing should be performed, especially within the first 2 years after starting this ASM. Our results indicate that oxcarbazepine-induced hypothyroidism does not appear to be accompanied by a significant increase in TSH, and consequently might be missed if TSH alone is monitored as a measure of thyroid dysfunction.

Neurologic complications after allogeneic hematopoietic stem cell transplantation in children: analysis of prognostic factors.

Neurologic complications are serious complications after hematopoietic stem cell transplantation (HSCT) and significantly contribute to morbidity and mortality. The purpose of this study was to investigate the clinical features and prognosis in pediatric patients who had neurologic complications after allogeneic HSCT. We retrospectively reviewed the medical records of children and adolescents (19 years old or younger) who underwent allogeneic HSCT at our institution from 2000 to 2012. A total of 383 patients underwent 430 allogeneic transplantations. Among them, 73 episodes of neurologic complications occurred in 70 patients. The cumulative incidence of neurologic complications at day 400 was 20.0%. Almost two thirds of the episodes (63.0%, 46 of 73) occurred within 100 days after transplantation. Calcineurin inhibitor-related neurotoxicity was observed as the most common cause of neurotoxicity (47.9%, 35 of 73) and was significantly associated with earlier onset neurologic complications, seizure, and tremor. It also showed a significant association with lower probability of headache, abnormality of cranial nerve, and neurologic sequelae. In a multivariate analysis, days to neutrophil engraftment after HSCT, extensive chronic graft-versus-host disease (GVHD) and the existence of neurologic sequelae were identified as risk factors for mortality in patients who had neurologic complications (hazard ratio [HR], 1.08; 95% confidence interval [CI], 1.02 to 1.15; P = .011; HR, 5.98; 95% CI, 1.71 to 20.90; P = .005; and HR, 4.37; 95% CI, 1.12 to 17.05; P = .034, respectively). However, there was no significant difference in the 5-year overall survival between the patients who had neurologic complications without sequelae and the patients who did not have any neurologic complications (57.3% versus 61.8%, P = .906). In conclusion, we found that the major significant risk factors for mortality in pediatric recipients with neurologic complications were the existence of neurologic sequelae and extensive chronic GVHD.

Amniopatch treatment for spontaneous previable, preterm premature rupture of membranes associated or not with incompetent cervix.

OBJECTIVE: We reviewed women with previable spontaneous premature rupture of membranes (sPPROM) in whom an amniopatch was performed and compared their pregnancy outcomes with a conservative management group. METHODS: Amniopatch, an amnioinfusion of autologous platelet concentrate followed by cryoprecipitate, was performed in 7 women with sPPROM diagnosed at 17-23 weeks' gestation, including one twin pregnancy. Three patients had incompetent cervices and the other 4 patients had sPPROM without incompetent cervices. Pregnancy outcomes of the cases were compared with the controls who were managed conservatively (n = 22). RESULTS: Amniopatch treatment was successful in 1 of 7 cases (14.3%), in which the ruptured membranes were completely sealed and the patient delivered a healthy baby at 39 weeks' gestation. No procedure-related complications were observed. Overall, neonatal outcome was similar in the amniopatch and conservatively managed groups, although the incidences of early neonatal sepsis and respiratory distress syndrome were lower in the amniopatch group. CONCLUSION: The overall success rate of amniopatch among our small number of cases was low. However, if successful, amniopatch may prolong a pregnancy with previable sPPROM to term.

Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis.

Systemic hyalinosis is a rare, multisystem, progressive, autosomal recessive disorder of connective tissue characterized by diffuse hyaline deposition in the skin, bone or viscera. Owing to its rarity and initial manifestations that resemble arthrogryposis congenital multiplexa, correct diagnosis can be elusive and often delayed. We present the computed tomography (CT) and whole-body (WB) magnetic resonance (MR) findings in two unrelated children with systemic hyalinosis who came to medical attention because of multiple joint contractures and limitation of motion in early infancy.

Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.

Tuberous sclerosis complex is a genetic disorder caused by mutations in the genes TSC1 or TSC2. Studies of these mutations are very rare in Korean populations. A previous study identified mutations in only 30% of patients by denaturing high performance liquid chromatography with sequencing. Here, we sought to determine the mutational frequency in Koreans. Eleven patients who fulfilled the diagnostic criteria for tuberous sclerosis complex were included. All patients underwent sequencing of both TSC genes, and if no mutations were evident, multiplex ligation-dependent probe amplification was performed. Mutations were detected by sequencing in 82% (9/11) of patients: 36.4% (4/11) in TSC1 and 45.5% (5/11) in TSC2. Two patients with no mutations carried large deletions that included exon 1 of TSC1 in one patient and exons 1-15 of TSC2 in the other patient. Mutations were completely identified in the present study. Therefore, mutation rates in Korean patients may not be lower than those in other ethnic groups. Direct sequencing followed by multiplex ligation-dependent probe amplification analysis may constitute a rational approach to identify disease-causing mutations in Korean patients.

Brain abscess in Korean children: A 15-year single center study.

PURPOSE: A brain abscess is a serious disease of the central nerve system. We conducted this study to summarize the clinical manifestations and outcomes of brain abscesses. METHODS: A retrospective chart review of pediatric patients diagnosed with brain abscesses from November 1994 to June 2009 was performed at Samsung Medical Center, Seoul, Korea. RESULTS: Twenty-five patients were included in this study. On average, 1.67 cases per year were identified and the median age was 4.3 years. The common presenting clinical manifestations were fever (18/25, 72%), seizure (12/25, 48%), altered mental status (11/25, 44%), and signs of increased intracranial pressure (9/25, 36%). A total of 14 (56%) patients had underlying illnesses, with congenital heart disease (8/25, 32%) as the most common cause. Predisposing factors were identified in 15 patients (60%). The common predisposing factors were otogenic infection (3/25, 12%) and penetrating head trauma (3/25, 12%). Causative organisms were identified in 64% of patients (16/25). The causative agents were S. intermedius (n=3), S. aureus (n=3), S. pneumoniae (n=1), Group B streptococcus (n=2), E. coli (n=1), P. aeruginosa (n=1), and suspected fungal infection (n=5). Seven patients received medical treatment only while the other 18 patients also required surgical intervention. The overall fatality rate was 16% and 20% of patients had neurologic sequelae. There was no statistical association between outcomes and the factors studied. CONCLUSION: Although uncommon, a brain abscess is a serious disease. A high level of suspicion is very important for early diagnosis and to prevent serious consequences.