PURPOSE: Vitamin D status was evaluated in children with epilepsy taking anticonvulsants to determine the prevalence and risk factors of vitamin D deficiency. METHODS: This study was designed as both a cross-sectional and a retrospective cohort study. A sum of 198 children who were diagnosed with epilepsy at the Department of Pediatrics in Dankook University Hospital was included. Their serum vitamin D levels were reviewed based on clinical information, and analyzed using IBM SPSS ver. 20.0. RESULTS: One hundred twenty-four children (62.6%) had vitamin D deficiency. Two risk factors were associated: winter to spring season (odds ratio [OR], 3.71; 95% confidence interval [CI], 1.835-7.492) and age more than 12 years (OR, 3.22; 95% CI, 1.377-7.542). Out of the 57 patients who were not vitamin D deficient at the time of initial assay, 47 patients (82.5%) became vitamin D deficient during followup. The change of serum 25-hydroxy vitamin D3 (25(OH)D) levels during follow up showed a weak negative correlation with the duration of medication (r=-0.283, P=0.033). Medication duration was longer and brain magnetic resonance imaging (MRI) abnormality, abnormal underlying conditions, and nonambulatory status were more frequently present in twenty-five patients (44%) who showed a decline of more than 15 ng/mL during follow-up (P<0.05). CONCLUSION: Vitamin D deficiency is common in children with epilepsy taking anticonvulsants, especially in adolescents more than 12 years of age. This study emphasizes the regular monitoring of vitamin D level, especially in the presence of longer duration of medication, brain MRI abnormality, abnormal underlying conditions, and nonambulatory status.
Adolescent ; Anticonvulsants* ; Brain ; Child* ; Cholecalciferol ; Cohort Studies ; Epilepsy* ; Follow-Up Studies* ; Humans ; Magnetic Resonance Imaging ; Pediatrics ; Prevalence ; Retrospective Studies ; Risk Factors* ; Seasons ; Vitamin D Deficiency* ; Vitamin D* ; Vitamins*

Diabetes mellitus (DM) can be classified as type 1, type 2, and other specific types according to the underlying causes. Other specific types include genetic defects of beta-cell function, insulin action, and other genetic syndromes associated with diabetes. Most childhood diabetes has been thought of as type 1 diabetes mellitus (T1DM), but the incidence of type 2 (T2DM) in childhood is rapidly increasing and it can be caused by monogenic defect. In some cases, it might not be easy to determine the type of diabetes and to choose the appropriate treatment. Many susceptible genes to the development of T1DM, T2DM as well as the causative genes of the monogenic diabetes have been identified due to the development of genome-wide association studies, candidate gene analysis and familial linkage studies. Study of the genetic factors in diabetes mellitus is valuable because it enables more appropriate management, and better prediction of disease progression. Therefore, it is important to consider the genetic factors in the management of childhood diabetes.
Diabetes Mellitus ; Diabetes Mellitus, Type 1 ; Diabetes Mellitus, Type 2 ; Disease Progression ; Genetic Association Studies ; Genome-Wide Association Study ; Incidence ; Insulin

Fulminant type 1 diabetes is a subtype of idiopathic type 1 diabetes and is characterized by a short duration of symptom onset and an absence of anti-islet autoantibodies. It has not been common since first reported in Japan, and only two childhood cases are reported in Korea. Malnutrition-related diabetes is associated with malnutrition and characterized by low body weight and hyperglycemia without ketoacidosis. Here we report a case of malnutrition-related fulminant diabetes in a 15-year-old girl with Sturge-Weber syndrome.
Adolescent ; Autoantibodies ; Body Weight ; Diabetes Mellitus ; Humans ; Hyperglycemia ; Japan ; Ketosis ; Korea ; Malnutrition ; Sturge-Weber Syndrome

Fulminant type 1 diabetes is a subtype of idiopathic type 1 diabetes and is characterized by a short duration of symptom onset and an absence of anti-islet autoantibodies. It has not been common since first reported in Japan, and only two childhood cases are reported in Korea. Malnutrition-related diabetes is associated with malnutrition and characterized by low body weight and hyperglycemia without ketoacidosis. Here we report a case of malnutrition-related fulminant diabetes in a 15-year-old girl with Sturge-Weber syndrome.
Adolescent ; Autoantibodies ; Body Weight ; Diabetes Mellitus ; Humans ; Hyperglycemia ; Japan ; Ketosis ; Korea ; Malnutrition ; Sturge-Weber Syndrome

Hypercalcemia is not common, and occurs more frequently in children than in adults. Left untreated, hypercalcemia could result in a profound impact on growth and development. We report a case of recurrent idiopathic infantile hypercalcemia with poor weight gain, constipation, and a renal stone. We successfully treated the infantile hypercalcemia with a low-calcium diet and intravenous pamidronate.
Adult ; Child ; Constipation ; Diet ; Diphosphonates ; Growth and Development ; Humans ; Hypercalcemia ; Infant ; Kidney Calculi ; Weight Gain

Hypercalcemia is not common, and occurs more frequently in children than in adults. Left untreated, hypercalcemia could result in a profound impact on growth and development. We report a case of recurrent idiopathic infantile hypercalcemia with poor weight gain, constipation, and a renal stone. We successfully treated the infantile hypercalcemia with a low-calcium diet and intravenous pamidronate.
Adult ; Child ; Constipation ; Diet ; Diphosphonates ; Growth and Development ; Humans ; Hypercalcemia ; Infant ; Kidney Calculi ; Weight Gain

PURPOSE: This study was designed to evaluate the clinical characteristics of childhood diabetes mellitus (DM) according to its classification as well as the clinical course of latent autoimmune diabetes (LAD) that initially showed noninsulin dependence despite autoantibody positivity. METHODS: A total of 91 subjects diagnosed between 2001 and 2015 were enrolled in the study. They were classified into 3 groups: type 1 DM, LAD, and type 2 DM. Clinical features and laboratory findings were compared among groups. RESULTS: Among 91 subjects, type 1 DM, LAD, and type 2 DM were 51 (56.0%), 7 (7.7%), and 33 (36.3%), respectively. In LAD, age at diagnosis and BMI Z-scores were higher, as compared with those in type 1 DM. Initial serum c-peptide levels were higher in LAD than those in type 1 DM, but lower than those in type 2 DM. In LAD, the mean follow-up duration was 4.56 years, and 43% of the patients ultimately required intensive insulin treatment with dosage of > 0.5 U/kg/day. HbA1C and serum c-peptide levels at the time of intensive insulin treatment were 9.43±0.93% and 1.37±1.36 ng/mL, respectively. Recent serum c-peptide/glucose ratio was lower in the group requiring intensive insulin treatment than the group without intensive insulin treatment, with P-value of 0.057 (0.003±0.005 vs. 0.071±0.086). CONCLUSION: Initial autoantibody evaluation is useful for classification and management. Close monitoring of the patients with LAD is important due to the expected need for intensive insulin treatment within several years.

PURPOSE: This study was designed to evaluate the clinical characteristics of childhood diabetes mellitus (DM) according to its classification as well as the clinical course of latent autoimmune diabetes (LAD) that initially showed noninsulin dependence despite autoantibody positivity. METHODS: A total of 91 subjects diagnosed between 2001 and 2015 were enrolled in the study. They were classified into 3 groups: type 1 DM, LAD, and type 2 DM. Clinical features and laboratory findings were compared among groups. RESULTS: Among 91 subjects, type 1 DM, LAD, and type 2 DM were 51 (56.0%), 7 (7.7%), and 33 (36.3%), respectively. In LAD, age at diagnosis and BMI Z-scores were higher, as compared with those in type 1 DM. Initial serum c-peptide levels were higher in LAD than those in type 1 DM, but lower than those in type 2 DM. In LAD, the mean follow-up duration was 4.56 years, and 43% of the patients ultimately required intensive insulin treatment with dosage of > 0.5 U/kg/day. HbA1C and serum c-peptide levels at the time of intensive insulin treatment were 9.43±0.93% and 1.37±1.36 ng/mL, respectively. Recent serum c-peptide/glucose ratio was lower in the group requiring intensive insulin treatment than the group without intensive insulin treatment, with P-value of 0.057 (0.003±0.005 vs. 0.071±0.086). CONCLUSION: Initial autoantibody evaluation is useful for classification and management. Close monitoring of the patients with LAD is important due to the expected need for intensive insulin treatment within several years.

Many hormones including steroid hormones and thyroid hormone alter the excitability of neurons of the cerebral cortex and thereby alter the seizure threshold. Seizures also change the endocrine environment, probably through actions on the hypothalamic-pituitary axis, leading ultimately to changes in secretion of gonadal steroids. The sex steroid hormones alter GABA-mediated inhibition and glutamate-mediated excitation. For example, estrogen increases the likelihood of a seizure while progesterone decreases it. In addition, some antiepileptic drugs further complicate hormone-seizure interactions. Therefore, there is an increased frequency of infertility, reproductive endocrine deficits, and sexual dysfunction as well as an increased risk for osteopenia and osteoporosis in patients with epilepsy. A greater understanding of the hormonal effects on seizure threshold and the changes in the neuroendocrine system associated with seizure might lead to more adjunctive treatment modalities other than current antiepileptic medications. Careful monitoring of neuroendocrine changes as well as seizure control is required in patients with epilepsy.
Anticonvulsants ; Axis, Cervical Vertebra ; Bone Diseases, Metabolic ; Cerebral Cortex ; Epilepsy ; Estrogens ; Gonadal Steroid Hormones ; Gonads ; Humans ; Infertility ; Neurons ; Neurosecretory Systems ; Osteoporosis ; Progesterone ; Seizures ; Steroids ; Thyroid Gland

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year- and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.
Chin ; Comparative Genomic Hybridization ; Diagnosis ; Ear ; Epilepsy ; Eyebrows ; Fluorescence* ; Heart Defects, Congenital ; Humans ; In Situ Hybridization* ; Infant ; Infant, Newborn ; Intellectual Disability ; Karyotyping ; Male ; Microcephaly ; Muscle Hypotonia ; Nucleic Acid Hybridization* ; Phenotype ; Seizures ; Seizures, Febrile