PurposeThis study investigates the behavioral and emotional characteristics of Korean children and adolescents with type 1 diabetes mellitus (T1DM) as compared to healthy controls, and examines whether their psychological status is associated with glycemic control, insulin regimens, or disease duration.MethodsA total of 37 Korean children and adolescents with T1DM, aged 6-17 years, and 38 sex- and age-matched healthy controls were included in this study. Psychological distress was assessed using the Korean child behavior checklist (K-CBCL) and children's depression inventory (CDI) after the subjects and their parents were interviewed.ResultsThe CDI and K-CBCL scores were significantly higher in T1DM subjects compared to normal controls. The T1DM subjects with "poorly controlled" blood glucose (glycosylated hemoglobin ≥8%) and "old patients" (disease duration ≥1 year) had a tendency to show higher CDI and K-CBCL scores. There were no significant differences in CDI and K-CBCL scores between the intensive and conventional insulin therapy groups.ConclusionChildren and adolescents with T1DM seem to have inferior psychological adjustment to their normal counterparts, which might be associated with glycemic control and disease duration. Psychological evaluation and intervention should be considered in the management of T1DM in children and adolescents.

Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, hypospadia, and sacral skin tag coupled with dermal sinus tract. Brain magnetic resonance imaging revealed that the patient also had non-communicating hydrocephalus with Chiari malformation. This is the 8th report of Beare-Stevenson syndrome in the literature, which was confirmed by the detection of a Tyr375Cys mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.

PurposeThis study aimed to assess early development in very low birth weight (VLBW) infants with mild intraventricular hemorrhage (IVH) or those without IVH and to identify the perinatal morbidities affecting early neurodevelopmental outcome.MethodsBayley Scales of Infant Development-II was used for assessing neurological development in 49 infants with a birth weight <1,500 g and with low grade IVH (≤grade II) or those without IVH at a corrected age of 12 months.ResultsAmong the 49 infants, 19 infants (38.8%) showed normal development and 14 (28.6%) showed abnormal mental and psychomotor development. Infants with abnormal mental development (n=14) were mostly male and had a longer hospitalization, a higher prevalence of patent ductus arteriosus (PDA) and bronchopulmonary dysplasia (BPD), and were under more frequent postnatal systemic steroid treatment compared with infants with normal mental development (n=35, P<0.05). Infants with abnormal psychomotor development (n=29) had a longer hospitalization and more associated PDA compared to infants with normal psychomotor development (n=20, P<0.05). Infants with abnormal mental and psychomotor development were mostly male and had a longer hospitalization and a higher prevalence of PDA and BPD compared to infants with normal mental and psychomotor development (n=19, P<0.05). Using multiple logistic regression analysis, a longer duration of hospitalization and male gender were found to be significant risk factors.ConclusionApproximately 62% of VLBW infants with low grade IVH or those without IVH had impaired early development.

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Joubert syndrome is a rare genetic disorder of childhood that is characterized by hypoplasia or agenesis of the cerebellar vermis in addition to brainstem malformations. Ataxia, hypotonia, developmental delay, and apnea-hyperpnea are the most prominent clinical symptoms of Joubert syndrome, but this condition can also affect multiple organs, making the clinical phenomenology of Joubert syndrome quite diverse. Seizures are the most common neurological complications of Joubert syndrome, but its neurological sequelae are poorly described because Joubert syndrome is very rare. Here we report an acute ischemic stroke in a 21-year-old woman with Joubert syndrome who had no conventional risk factors for early onset cerebrovascular disease. To date, this is the first report of an ischemic stroke in a patient with Joubert syndrome, and we believe this case may suggest an association between Joubert syndrome and extremely early onset cerebrovascular disease.