Postural orthostatic tachycardia syndrome (POTS) is a heterogeneous disorder in children and adolescents. Recently, there have been some data concerning the prevalence of POTS in adults. However, current studies on POTS in children and adolescents are rare. Thus, many young patients with POTS are misdiagnosed with migraine or other diseases.Current Concepts: The diagnosis and treatment of POTS differ between pediatric and adult patients. POTS in children and adolescents is diagnosed with chronic symptoms of orthostatic intolerance, such as a heart rate rise of 40 beat per minute (bpm) or a heart rate exceeding 130 bpm without orthostatic hypotension. There are three major POTS categories: hypovolemic POTS, neuropathic POTS, and hyperadrenergic POTS. These categories are distinguished by their major mechanisms. The different subtypes of POTS in children and adolescents have their own clinical characteristics and laboratory findings.Discussion and Conclusion: Treatment of POTS in children and adolescents should always include lifestyle changes, nutritional adjustments, exercise, and drugs depending on the different subtypes of POTS.

Thyroid hormones are crucial for development of the central nervous system. Congenital hypothyroidism (CH) is the most common preventable disease resulting in mental retardation. A neonatal screening test (NST) can detect a mild form of CH that can be treated at an early age. Generally after 3 years of age, when most of the brain has matured, clinicians consider reevaluation of thyroid function for CH patients that have been identified with a normal thyroid gland at a normal position. This report presents three CH patients that developed normally, with persistent goiter despite thyroid hormone supplements. The patients’ initial thyroid-stimulating hormone (TSH) level after NST was 47, 157, and 57 mIU/L, respectively. Levothyroxine administration began at 1 or 2 months of age and was terminated after reevaluation at the age of 3, 15, and 5 years, respectively. However, 1 or 2 years later, they all resumed their medication due to increased TSH level coupled with newly developed or enlarged goiter. They all showed dual oxidase maturation factor 2 (DUOXA2) gene mutation: a homozygous mutation with DUOXA2 (c.413dupA; p.Tyr138*) in case 1, a presumed compound heterozygotic mutation with DUOXA2 (p.Tyr138*/p.Tyr246*) in case 2, and heterozygous mutations with DUOXA2 (c.738C>G; p.Tyr246*) and TPO (c.2268dupT; p.Glu757*) in case 3. When goiter persists or is newly developed despite a maintained euthyroid status, for those with transient CH history, follow-up to assess the thyroid function is recommended for at least 1 or 2 years, and genetic testing would be helpful. This study presents the first clinical cases of DUOXA2 mutation in Korea.

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063*, respectively) and we consider the nonsense mutation as ‘pathogenic variant’. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke’s cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

Objective: Precocious puberty is the adrenarche that occurs before the age of 8 in girls. Gonadotropin-releasing hormone stimulation test (GnRH stimulation test), which is widely used in diagnosing precocious puberty, is commonly used to evaluate the activity of the hypothalamus-pituitary-gonad axis, but it has the disadvantages of low sensitivity and laborious blood sampling process. On the other hand, pelvic ultrasonography has the advantage of being inexpensive and easy to test. The purpose of this study was to investigate the usefulness of pelvic ultrasonography for the diagnosis of precocious puberty and whether there is a significant relationship between the GnRH stimulation test and ultrasonography findings. Methods: From January 2016 to September 2021, a total of 234 girls with precocious puberty who visited the Soonchunhyang University Seoul Hospital were subjected to pelvic ultrasonography. Results: The size of both ovaries in the group with a peak luteinizing hormone (LH) value of 10 IU/L or higher in the GnRH stimulation test was significantly larger than that of the group with a peak LH value of less than 7 IU/L. A group with a peak LH value of 10 IU/L or higher in the GnRH stimulation test had 0.63 cm and 0.9 cm significantly larger uterus size than that of the other two groups. Conclusion Uterus and ovary sizes have a positive correlation with peak LH values in the GnRH stimulation test. Pelvic ultrasonography is considered to be a useful test for estimating precocious puberty without causing much discomfort to the child.

Objectives: The purpose of this study was to develop a screening tool that is simple and easy to use for assessing sleep problems, including hypersomnolence, restless legs syndrome, and insomnia. We also examined the reliability and validity of this tool. Methods: We developed the Sleep Problem Screening Questionnaire (SPSQ), which consists of three sub-sections: insomnia (SPSQi), hypersomnolence (SPSQh), and restless legs syndrome (SPSQr). Subsequently, the participants, consisting of 222 patients with insomnia disorder and 78 healthy individuals, completed both the SPSQ and the comparative scale (Korean version of the Insomnia Severity Index). The analysis was then conducted using this data. Results: The SPSQ demonstrated good convergent and discriminant validity, as well as satisfactory internal consistency. A cutoff score of 6 on the SPSQi was found to be optimal for distinguishing individuals with insomnia. Conclusion The results of this study suggest that the SPSQ is a reliable and valid tool for screening sleep problems among general adult population. However, there is a limitation as a comparison and validation with scales related to restless legs syndrome and hypersomnolence were not conducted.

Tatton-Brown-Rahman syndrome (TBRS) is a relatively new congenital anomaly syndrome manifesting overgrowth and a broad spectrum of intellectual disability. It is caused by pathogenic variants in the DNA methyltransferase 3 alpha (DNMT3A) gene, mainly de novo inheritance. Overgrowth, mild-to-severe intellectual disability, and other clinical features of TBRS may affect the quality of life of patients and their family members. Thus, early diagnosis by genetic testing and management of these symptoms is critical. We report a case of a 17-year-old male patient with hemihypertrophy who suffered back pain since school age, diagnosed with TBRS-identified DNMT3A gene mutation.

Although some full-term neonates suffer from mastitis or a breast abscess, mastitis is not common in neonates and concurrent bacteremia is a rarely seen. We report the case of a 30-day old boy of African ethnicity, who was a full-term infant and appropriate for gestational age. At birth, he had bilateral palpable breast masses. He had high fever as well as swelling and nipple discharge in both breasts 30 days after birth. An ultrasonography of the breast showed masses with septa in both breasts. The breast masses were red in color, swollen, and felt hot to the touch. We incised the mass and performed a culture of the discharge. Staphylococcus epidermidis was detected in both blood and the breast discharge. In conclusion, the infant experienced neonatal bacteremia that originated from a breast abscess.
Abscess* ; Bacteremia ; Breast* ; Female ; Fever ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Male ; Mastitis* ; Nipples ; Parturition ; Sepsis* ; Staphylococcus epidermidis ; Ultrasonography

Moyamoya disease is a cerebrovascular disorder characterized by internal carotid arteries' occlusion or stenosis. Its etiology remains unknown, and it occurs more frequently in Asian countries than western countries. It can occur at any age, and approximately 50% of patients are children. Initial manifestations of moyamoya disease are very different according to age. In general, cerebral ischemic symptoms like transient ischemic attacks (TIA) are the most common manifestation of children. It is a chronic progressive disease and cause recurrent stroke, so early diagnosis and management is very important. We report a case of moyamoya disease without TIA, in a 7 years old female child presenting as unusual symptoms, such as walking difficulty and dysarthria.
Asian Continental Ancestry Group ; Cerebrovascular Disorders ; Child ; Constriction, Pathologic ; Dysarthria ; Early Diagnosis ; Female ; Humans ; Ischemic Attack, Transient* ; Moyamoya Disease* ; Stroke ; Walking

Sodium and potassium intake was assessed on the basis of its respective excretion levels in 24 hr urine samples. However, owing to the inconvenience of collection, we evaluated random spot urine for alternative sodium and potassium excretion markers. We included 250 patients who submitted 24 hr- and spot urine for clinical tests. However, 22 patients who showed 24 hr urine creatinine excretion levels <500 mg/day were excluded, because these samples possibly resulted from incomplete urine collection. Moreover, 24 patients were excluded because of their use of diuretics during the urine collection period. We observed significant correlations between 24 hr urine sodium excretion and both the sodium/creatinine (r=0.34, P<0.0001) and the sodium/specific gravity unit (SGU) ratios (r=0.19, P=0.007) in random urine samples. Similarly, 24 hr urine potassium excretion and both the spot urine potassium/creatinine (r=0.47, P<0.0001) and potassium/SGU ratios (r=0.28, P<0.0001) were significantly correlated. Although the estimated sodium/creatinine and potassium/creatinine ratios showed a significant correlation with 24 hr urine sodium and potassium excretion, respectively, further studies are required to develop a spot urine test for individualized monitoring of sodium and potassium excretion.
Biomarkers/urine ; Creatinine/*urine ; Humans ; Hypertension/pathology/urine ; Potassium/*urine ; Sodium/*urine ; Urinalysis ; Urine Specimen Collection

Acute hemorrhagic encephalomyelitis (AHEM) is a severe form of encephalitis characterized by fulminant clinical course and presence of hemorrhagic necrosis of the white matter. Mycoplasma pneumoniae (M. pneumoniae) have severe central nervous syndrome complication with encephalitis as that most common pediatric manifestations, but have been extremely rare report with AHME. A 10-year-old boy was referred to emergency room because of drowsy mental status, weakness of left side extremities and truncal ataxia. His deep tendon reflexes were hyperactive, neck stiffness sign and Babinski sign were both positive. Motor power were decreased on the both left upper and lower extremities. The sequences of T2-weighted and gradient recalled echo (GRE) showed hyper-intense lesions on multifocal white natter areas with hemorrhagic signal. Cerebrospinal fluid (CSF) analysis showed the pleocytosis with neutrophil dominant. The results of deoxyribonucleic acid (DNA) test and culture of M. pneumoniae were reported negative in CSF, but immunoglobulin M (IgM) was positive in blood. He received intravenous high dose corticosteroid and macrolide. After discharge, his neurologic function gradually returned to normal including sitting and standing without support. We reported the previously healthy boy with M. pneumonia related AHEM. The early diagnosis with brain MRI and the aggressive immunosuppressive treatment may be beneficial for recovery.
Ataxia ; Brain ; Cerebrospinal Fluid ; Child ; DNA ; Early Diagnosis ; Emergency Service, Hospital ; Encephalitis ; Extremities ; Humans ; Immunoglobulin M ; Leukocytosis ; Leukoencephalitis, Acute Hemorrhagic* ; Lower Extremity ; Magnetic Resonance Imaging ; Male ; Mycoplasma pneumoniae* ; Mycoplasma* ; Neck ; Necrosis ; Neutrophils ; Pneumonia ; Pneumonia, Mycoplasma* ; Reflex, Babinski ; Reflex, Stretch ; White Matter