Familial lipoprotein lipase (LPL) deficiency typically occurs during childhood and is characterized by severe hypertriglyceridemia, accompanied by episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. The clearance of chylomicrons from plasma is impaired, causing triglyceride accumulation and giving the plasma a milky/lactescent/lipemic appearance. Symptoms typically resolve when total dietary fat is restricted to 20 g/d. Acute management focuses on maintaining triglyceride levels using insulin, plasmapheresis, blood exchange transfusion, and heparin, although few of these interventions have proven effective in infants. Here, we report a rare case of severe hypertriglyceridemia in a 40-d-old infant who presented with respiratory distress, xanthoma, hepatosplenomegaly, and lipemic samples. Plasmapheresis resulted in a reduction in triglyceride levels and clinical improvement, and further evaluation confirmed a diagnosis of LPL deficiency. Familial LPL deficiency can occur during early infancy, with life-threatening complications. A consensus on the acute management of hypertriglyceridemia in the pediatric population needs to be meticulously established after exploring possible treatment strategies, including plasmapheresis.

Thyroid storm is a life-threatening disorder caused by thyrotoxicosis. Diagnostic criteria in adults emphasize central nervous system (CNS) symptoms, including seizures, as CNS symptoms are associated with irreversible damage. However, children have a lower seizure threshold than adults, which may lead to overestimation of severity in pediatric cases with seizures. This study reports two pediatric cases of thyroid storm with seizures, fever, and tachycardia. The more severe case remained unconscious and restless, necessitating intubation and intensive care. The other case regained consciousness spontaneously following the initiation of treatment for thyroid storm. A literature review of 84 children and adolescents with thyroid storm revealed 16 cases (19%) that exhibited seizures. The prevalence of seizures was higher in infants (30.0%) and children (30.4%) than in adolescents (7.3%). Almost all 16 cases with seizures had favorable outcomes, suggesting that seizures in pediatric thyroid storm cases may not be associated with poor prognosis. Although seizures appear to be more common in pediatric thyroid storm and may not necessarily predict poor outcomes, the presence of seizures warrants careful evaluation because of the life-threatening nature of the condition.

We examined whether cartoon-based diabetes education could enhance diabetes knowledge and physical activity among children. During the first visit, participants completed a diabetes knowledge test; accelerometers, which were worn, were distributed. During the second visit, participants were randomly assigned to the cartoon distribution or lecture attendance group. At 6 mo post-intervention, the children received the diabetes knowledge test and accelerometers via mail, completed them at home, and returned them. Thirty children participated, with a 100% follow-up rate. Changes in diabetes knowledge test scores or physical activity levels showed no significant between-group differences; however, both groups exhibited significant within-group improvements. In the diabetes knowledge test, the cartoon distribution and lecture attendance groups improved by 11 (19 [17, 22] to 30 [23, 35], p = 0.003) and 10 (17 [14, 23] to 28 [26, 32], p = 0.007) points, respectively. Physical activity significantly increased, with the cartoon distribution and lecture attendance groups gaining 1,427 ± 2,980 (6190 ± 2529 to 7617 ± 3315, p = 0.047) and 1,371 ± 2,659 (6640 ± 3056 to 8011 ± 3046, p = 0.037) steps/d, respectively. This pilot intervention revealed that diabetes-themed cartoons and lecture attendance were similarly effectiveness in improving diabetes knowledge and physical activity.

Neonatal Graves’ disease (GD) is rare and serious condition with a complicated clinical course, its details of the clinical features have not been clarified. This study aimed to clarify the clinical course of neonatal GD cases requiring anti-thyroid treatment. We retrospectively analyzed records from 12 neonates (7 males) diagnosed with GD from 2012 to 2021. All neonates had maternal histories of GD, with significantly elevated TRAb levels (≥ 19 IU/L) observed during the second or third trimester of pregnancy. At birth, TRAb levels were elevated in all neonates (≥ 17.4 IU/L). Thiamazole (MMI) was given to 11 neonates, with additional potassium iodide (KI) and/or β-blockers in 10 cases; one received only KI and a β-blocker. Notably, maternal TRAb levels during late pregnancy were significantly correlated with neonatal TRAb levels at birth (R² = 0.8454, p = 0.027), and neonatal TRAb levels at birth were significantly associated with the duration of MMI treatment (R² = 0.750, p = 0.002). Secondary central hypothyroidism was observed in 33% of cases (4/12), with unmeasurably low TSH levels at birth (< 0.01 μIU/mL) as a significant risk factor for its development (p < 0.03). These findings suggest that maternal TRAb levels significantly influence neonatal TRAb levels at birth, and neonatal TRAb levels may predict the duration of anti-thyroidal treatment.

Oxytocin (OXT), a hypothalamic neuropeptide traditionally associated with reproduction and social bonding, has recently garnered attention for its role in regulating appetite and energy metabolism. To evaluate serum OXT levels and their association with adipokines in obese adolescents and those with type 2 diabetes mellitus (T2DM) compared to healthy controls. In this cross-sectional study, we included 27 participants—9 obese (median age (interquartile range] 10.0 (8.7–13.0] yr; men/women 3/6), 7 T2DM (16.0 (13.0–17.0] yr; 6/1), and 11 controls (10.8 (7.5–15.9] yr; 9/2). Serum OXT and adipokine levels were measured via the enzyme-linked immunosorbent assay. OXT levels were higher in patients with T2DM (130 [110–380] pg/mL) than in controls (85 [60–95] pg/mL; p = 0.002) and the obese group (125 [90–250] pg/mL) was intermediate between the two groups. Across all participants, OXT correlated positively with body mass index-standard deviation score (r = 0.51, p < 0.01) and leptin (r = 0.62, p < 0.001), and inversely with adiponectin (r = −0.39, p = 0.04). Leptin emerged as the strongest predictor of OXT variability (β = 0.53, p < 0.01). In adolescents with T2DM, serum OXT levels may reflect compensatory mechanisms in response to leptin resistance or metabolic stress.

McCune-Albright syndrome (MAS) is a rare mosaic disorder caused by a gain-of-function pathogenic GNAS variant that triggers endocrine and skeletal manifestations, including fibrous dysplasia (FD) and FGF23-related hypophosphatemia. Conventional treatments (e.g., phosphate supplementation, vitamin D analogs) have shown limited efficacy against MAS. Burosumab, a monoclonal FGF23-targeting antibody, has recently been reported as a potential treatment. We report the case of a 2-yr-old girl with MAS complicated by hyperthyroidism, gonadotropin-independent precocious puberty, excess GH, Cushing syndrome, FD, and FGF23-related hypophosphatemia. Genetic testing confirmed a pathogenic GNAS variant (p.Arg201Cys). By the age of 16 mo, she experienced > 7 fractures. Burosumab (1.0 mg/kg bi-weekly) was administered at age 2 yr and 3 mo. Her serum phosphate levels normalized, tubular maximum reabsorption of phosphate-to-glomerular filtration rate ratio improved, bone pain resolved, and she experienced no further fractures since 2 yr and 7 mo, as of age 4 yr and 6 mo. To our knowledge, our patient is the youngest MAS patient treated with burosumab and the second reported case to receive burosumab among patients with genetically confirmed MAS. Burosumab improved biochemical abnormalities related to excess FGF23 and reduced fracture occurrence in our patient, supporting its efficacy in treating FGF23-related hypophosphatemia due to MAS.

Obesity is a major complication in individuals with 21-hydroxylase deficiency (21-OHD) and excessive hydrocortisone (HC) dosing is a likely contributing factor. However, the association between the HC dosage and body mass index (BMI) during childhood remains unclear. We previously reported a positive correlation between HC dosage during late infancy and a subsequent increase in BMI. In this study, we expanded our research to assess the impact of HC dosage during childhood. We retrospectively collected data on HC dosages and BMI in 28 patients with 21-OHD (9 boys and 19 girls) at both 3 and 10 yr of age and conducted correlation analyses between HC dosage and BMI. No significant cross-sectional associations were observed between the body-surface-area adjusted HC dosage (HC/BSA) and BMI standard deviation score (BMI-SDS) at either 3 or 10 yr of age. However, the HC/BSA at 3 yr positively correlated with the BMI-SDS at 10 yr, indicating a longitudinal relationship. Furthermore, children whose HC/BSA at 3 yr fell almost within the guideline-recommended range exhibited significantly lower BMI-SDS at 10 yr compared to those receiving higher doses. The longitudinal association between HC dosage and BMI suggests the importance of careful HC dose monitoring, although causality could not be established.

Cerebral salt-wasting syndrome (CSWS) is characterized by renal sodium loss following intracranial disorders, leading to hyponatremia, reduced extracellular volume, and dehydration. The mechanisms underlying CSWS remain unclear. To date, no reports have described the coexistence of arginine vasopressin deficiency (AVPD), also known as central diabetes insipidus (cDI), and CSWS following hemispherotomy. We report a case of cDI and CSWS occurring after hemispherotomy, in which CSWS improved following intubation. A 7-month-old girl with right hemimegalencephaly and cortical dysplasia underwent hemispherotomy. On postoperative day (POD) 1, AVPD was diagnosed and treated with intravenous AVP. By POD 3, she developed CSWS, characterized by increased urinary sodium excretion, decreased serum sodium levels, dehydration, polyuria, and negative fluid balance. Notably, CSWS improved markedly after intubation on POD 5. However, within one day of extubation, CSWS recurred on POD 8. Her condition gradually improved between POD 8 and POD 14. She is currently clinically stable, with her AVPD well-controlled. Conclusion: AVPD and CSWS can co-occur after hemispherotomy, even without hypothalamic-pituitary involvement. The improvement and recurrence of CSWS associated with intubation and extubation suggest that positive end-expiratory pressure may represent a novel therapeutic strategy for CSWS.

Painless thyroiditis is a potential cause of thyrotoxicosis, typically presenting with weakness, fatigue, irritability, palpitations, and tremors; however, headache is an uncommon manifestation. Herein, we report two pediatric cases of painless thyroiditis in which headache was the initial presenting symptom. Two 14-yr-old boys presented to our emergency department with chief complaints of severe migraine-like headaches. They did not exhibit typical symptoms of thyrotoxicosis. Head imaging findings revealed no abnormalities, and blood test results indicated elevated thyroid hormone and suppressed thyroid-stimulating hormone levels. Both patients were diagnosed with painless thyroiditis based on the absence of thyroid pain and increased blood flow on thyroid ultrasonography, and were monitored on an outpatient basis with only symptomatic treatment. One patient experienced palpitations and required treatment with propranolol. Within a few months, thyroid hormone levels normalized spontaneously in both patients, and their headaches improved accordingly. Although the mechanism by which thyroid hormones cause headaches remains unclear, these two cases suggest that thyrotoxicosis may be associated with headaches. Thus, it is important to measure thyroid hormone levels in patients with severe headaches without an obvious cause. Furthermore, early detection of thyrotoxicosis may be possible, leading to appropriate treatment, prediction of the future course of the patient’s headache, and relief of the patients’ and parents’ anxiety levels.

Lymphocytic hypophysitis (LYH) is a rare autoimmune disorder characterized by lymphocytic infiltration of the pituitary gland, leading to central diabetes insipidus (CDI) and hypopituitarism. Although distinguishing LYH from other diseases presenting with pituitary enlargement is challenging, the use of anti-rabphilin-3A antibody (RPH3A-Ab) in the diagnosis of LYH has been recently reported. Case reports of LYH following coronavirus disease 2019 (COVID-19) infection in adult and adolescent patients have been accumulated. Here, we present the first case confirming the presence of RPH3A-Abs in pediatric CDI following COVID-19. A 4-yr-old girl developed CDI one week after COVID-19, and anterior hypopituitarism was confirmed 14 mo later. Head magnetic resonance imaging (MRI) revealed progressive pituitary stalk thickening, which subsequently improved. Although other disease-specific markers did not increase, serological testing confirmed the presence of RPH3A-Ab, supporting the clinical diagnosis of LYH. It has previously reported that RPH3A-Ab demonstrate high sensitivity and specificity in differential diagnosis of LYH, and RPH3A-Ab are also identified as positive in pediatric cases of LYH with a biopsy. Additionally, this is the first documented prepubertal case of LYH following COVID-19. Our case study indicates that LYH can occur in children after COVID-19, and RPH3A-Ab may be useful in its diagnosis.

Octreotide is considered a second-line treatment for congenital hyperinsulinism unresponsive to diazoxide. Necrotizing enterocolitis is a serious adverse effect of octreotide, typically occurring in a dose-dependent manner. Here, we report a case of necrotizing enterocolitis following a single administration of a very low dose of octreotide. A female infant was admitted on day 3 of life with severe hypoglycemia. Laboratory findings revealed hyperinsulinemia and hypoketotic hypoglycemia, confirming a diagnosis of congenital hyperinsulinism. Despite diazoxide therapy, adequate glycemic control was not achieved. As a second-line intervention, a single subcutaneous injection of octreotide (1.6 μg/kg) was administered. Two days post-administration, the patient developed abdominal distension and significant vomiting. NEC was diagnosed, necessitating bowel decompression surgery. Subsequent 18F-DOPA positron emission tomography/computed tomography revealed a focal lesion extending from the pancreatic head to the body. The lesion was successfully resected with preservation of nearly the entire normal pancreas. This case highlights that even a very low dose of octreotide may precipitate necrotizing enterocolitis, warranting close monitoring. Lesion localization using 18F-DOPA positron emission tomography/computed tomography is critical in guiding surgical management of congenital hyperinsulinism.