To review the diagnosis and treatment of a case of hypercalcium crisis caused by primary hyperparathyroidism（PHPT） and prophylactic treatment of hungry bone syndrome. In a 32-year-old male with hypercalcemia, the main manifestations were loss of appetite, nausea, polyuria, polydipsia, fatigue, lethargy, etc. parathyroid hormone, serum calcium increased, thyroid function was normal, thyroid color ultrasound and MRI showed space-occupying behind the right thyroid, radionuclide examination showed abnormal imaging agent concentration in the right parathyroid area, there was a history of pathological fracture. Clinically diagnosed as hypercalcemia crisis secondary to PHPT.
Male ; Humans ; Adult ; Hypercalcemia/diagnosis* ; Hyperparathyroidism, Primary/surgery* ; Parathyroid Hormone ; Hypocalcemia/complications* ; Thyroid Gland ; Calcium

Iatrogenic calcinosis cutis is due to the intravenous administration of calcium gluconate or calcium chloride to treat hypocalcemia. The arthors report three cases of calcinosis cutis with calcifications involving the upper or lower extremities in neonates following the extravasation of calcium gluconate. Three neonates, a 2-week-old girl, 4-week-old boy, and a 4-week-old girl, were consulted for indurated nodules after the intravenous administration of calcium gluconate at the intensive care unit. Complete remission of palpable nodule and calcification was observed on the radiograph at three weeks, four weeks and six months after the initial presentation in each. All three neonates with iatrogenic calcinosis curtis were resolved spontaneously without functional and cosmetic complications. According to enhancement of the patient's cognition about benign disease, a suitable explanation of the disease and avoiding unnecessary treatment through an early diagnosis of iatrogenic calcinosis cutis will reduce a number of potential medical malpractice disputes.
Administration, Intravenous ; Calcinosis ; Calcium Chloride ; Calcium Gluconate ; Calcium ; Cognition ; Dissent and Disputes ; Early Diagnosis ; Female ; Humans ; Hypocalcemia ; Infant, Newborn ; Intensive Care Units ; Lower Extremity ; Male ; Malpractice

Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents. Imperforate anus and partial cleft palate were found at birth, which were surgically repaired thereafter. There was no history of neonatal hypocalcemia, and karyotyping by GTG banding was normal. At the age of 11, hypocalcemia (serum calcium, 5.0 mg/dL) and decreased parathyroid hormone level (10.8 pg/mL) was noted when she visited our Emergency Department for fever and vomiting. The 22q11DS was suspected because of her mild mental retardation and velopharyngeal insufficiency, and a microdeletion on chromosome 22q11.2 was confirmed by fluorescence in situ hybridization. The 22q11DS should be considered in the differential diagnosis of hypocalcemia at any age because of its wide clinical spectrum.
22q11 Deletion Syndrome* ; Anal Canal* ; Anus, Imperforate ; Calcium ; Child* ; Cleft Palate ; Delayed Diagnosis* ; Diagnosis ; Diagnosis, Differential ; DiGeorge Syndrome ; Emergency Service, Hospital ; Female* ; Fever ; Fluorescence ; Heart Defects, Congenital ; Humans ; Hypocalcemia* ; Hypoparathyroidism ; In Situ Hybridization ; Intellectual Disability ; Karyotyping ; Parathyroid Hormone ; Parents ; Parturition ; Velopharyngeal Insufficiency ; Vomiting

PURPOSE: Thyroid cancer is a rare disease in pediatric population, but its incidence rate is increasing. The aim of this report is to present a single institution experience of pediatric thyroid cancer and to identify clinical features, predisposing factors, and postoperative course of pediatric thyroid cancer. METHODS: We retrospectively reviewed 35 pediatric patients who underwent operation due to thyroid cancer at Seoul National University Children's Hospital between May 1997 and January 2017. The median follow-up period was 70 months (range, 5–238 months). RESULTS: The mean age at operation was 12.0±5.91 years and 27 patients were female. The underlying conditions in patients included history of chemoradiotherapy for previous other malignancies (n=4), hypothyroidism (n=3), history of chemotherapy (n=2), family history of thyroid cancer (n=1) and history of radiation therapy (n=1). The initial symptoms were palpable neck mass (n=21) and incidental findings (n=11). Total thyroidectomy (n=30) or unilateral lobectomy (n=5) were performed. There were 15 postoperative complications including transient hypocalcemia in 14 patients and Horner's syndrome in 1 patient. The most common pathologic cell type was papillary thyroid cancer (n=29). Extrathyroid extension and lymph node invasion were found in 25 patients and 27 patients, respectively. Thirteen patients showed multifocality. During follow-up period, 5 patients underwent additional operation because of tumor recurrence in lymph nodes. Lung metastasis was detected in 3 patients at the time of diagnosis and in 3 patients during follow-up period. The mortality rate was zero and mean disease-free survival was 83.7±47.9 months. CONCLUSION: Pediatric thyroid cancer has lower mortality rate and recurrence rate as seen in this study despite the advanced stage at diagnosis. A thorough follow-up of patients with an underlying condition such as history of chemoradiotherapy and understanding new pediatric guideline can be helpful to maximize patients' survival and prognosis.
Causality ; Chemoradiotherapy ; Diagnosis ; Disease-Free Survival ; Drug Therapy ; Female ; Follow-Up Studies ; Horner Syndrome ; Humans ; Hypocalcemia ; Hypothyroidism ; Incidence ; Incidental Findings ; Lung ; Lymph Nodes ; Mortality ; Neck ; Neoplasm Metastasis ; Pediatrics ; Postoperative Complications ; Prognosis ; Rare Diseases ; Recurrence ; Retrospective Studies ; Seoul ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroidectomy

PURPOSE: Williams-Beuren syndrome (WBS) is caused by a hemizygous microdeletion of chromosome 7q11.23 and is characterized by global cognitive impairment, dysmorphic facial features, and supravalvular aortic stenosis. Endocrine dysfunctions have been reported in patients with WBS. This study was performed to investigate the frequency, clinical features, and outcomes of endocrine dysfunctions in children with WBS. METHODS: One hundred two patients were included. The diagnosis was confirmed by chromosome analysis and fluorescent in situ hybridization. Medical charts were reviewed retrospectively to analyze endocrine dysfunctions such as short stature, precocious puberty, thyroid dysfunctions, and hypocalcemia. RESULTS: The age at diagnosis was 3.7±4.4 years (one month to 19 years). Height- and weight-standard deviation score (SDS) were -1.1±1.1 and -1.4±1.4 at presentation, respectively. Short stature was found in 26 patients (28.3%) among those older than 2 years. Body mass index-SDS increased as the patients grew older (P<0.001). Two males and one female (2.9%) were diagnosed with central precocious puberty. Nine patients (8.8%) were diagnosed with primary hypothyroidism at age 4.0±4.3 years (one month to 12.1 years); their serum thyroid stimulating hormone and free T4 levels were 15.2±5.4 µU/mL and 1.2±0.2 ng/dL, respectively. Hypercalcemia was observed in 12 out of 55 patients under age 3 (22%) at the age of 14.3±6.6 months (7 to 28 months) with a mean serum calcium level of 13.1±2.1 mg/dL. CONCLUSION: Endocrine dysfunctions are not uncommon causes of morbidity in patients with WBS. The severity and outcomes of their endocrine manifestations were heterogeneous. Long-term follow-up is needed to predict the prognosis of endocrine features.
Aortic Stenosis, Supravalvular ; Calcium ; Child* ; Diagnosis ; Female ; Follow-Up Studies ; Humans ; Hypercalcemia ; Hypocalcemia ; Hypothyroidism ; In Situ Hybridization, Fluorescence ; Male ; Prognosis ; Puberty, Precocious ; Retrospective Studies ; Thyroid Gland ; Thyrotropin ; Williams Syndrome*

Tumor lysis syndrome (TLS) is an oncologic emergency due to the rapid lysis of tumor cells and subsequent release of large amounts of intracellular potassium, phosphate, and uric acid into the bloodstream. Precipitation of uric acid and/or calcium phosphate crystals in the renal tubules can result in acute kidney injury. TLS is frequently observed in children with malignancy, which has high tumor burden, rapid cell turnover or high chemosensitivity (particularly, Burkitt's lymphoma and acute lymphoblastic leukemia), following the initiation of cytotoxic therapy. The current recommendations for prophylaxis and management are based on the TLS risk stratification. It is essential to administer adequate fluid and hypouricemic agents (allopurinol and/or rasburicase) to prevent acute kidney injury. In children susceptible to TLS, prompt diagnosis and aggressive treatment, such as renal replacement therapy, should be performed through close monitoring.
Acute Kidney Injury ; Burkitt Lymphoma ; Calcium ; Child ; Diagnosis ; Emergencies ; Humans ; Hyperkalemia ; Hyperphosphatemia ; Hyperuricemia ; Hypocalcemia ; Monitoring, Physiologic ; Potassium ; Primary Prevention ; Renal Replacement Therapy ; Tumor Burden ; Tumor Lysis Syndrome* ; Uric Acid

In this narrative review we focus on acute symptomatic seizures occurring in subjects with electrolyte disturbances. Quite surprisingly, despite its clinical relevance, this issue has received very little attention in the scientific literature. Electrolyte abnormalities are commonly encountered in clinical daily practice, and their diagnosis relies on routine laboratory findings. Acute and severe electrolyte imbalances can manifest with seizures, which may be the sole presenting symptom. Seizures are more frequently observed in patients with sodium disorders (especially hyponatremia), hypocalcemia, and hypomagnesemia. They do not entail a diagnosis of epilepsy, but are classified as acute symptomatic seizures. EEG has little specificity in differentiating between various electrolyte disturbances. The prominent EEG feature is slowing of the normal background activity, although other EEG findings, including various epileptiform abnormalities may occur. An accurate and prompt diagnosis should be established for a successful management of seizures, as rapid identification and correction of the underlying electrolyte disturbance (rather than an antiepileptic treatment) are of crucial importance in the control of seizures and prevention of permanent brain damage.
Brain ; Diagnosis ; Electroencephalography ; Epilepsy ; Humans ; Hypernatremia ; Hypocalcemia ; Hyponatremia ; Seizures* ; Sensitivity and Specificity ; Sodium

PURPOSE: To describe the clinical characteristics of full-term neonates with hypocalcemia and to suggest factors associated with neonatal hypocalcemia METHODS: The medical records of full-term neonates with hypocalcemia were reviewed. Hypocalcemia was defined as an ionized calcium (iCa) concentration of <4 mg/dL. Parathyroid hormone (PTH) insufficiency was defined as a serum PTH level of <60 pg/mL or a serum phosphorus level higher than the serum calcium level in the presence of hypocalcemia. RESULTS: Fifty-three neonates were enrolled. The median age at diagnosis of hypocalcemia was 3 days. In all the neonates, formula feeding predominance was observed. Thirty-eight neonates (69.8%) were compatible with PTH insufficiency. The number of formula-fed neonates was significantly higher than that of breast-fed patients among neonates with PTH insufficiency (P=0.017). Intact PTH was negatively correlated with serum phosphorus levels. Twelve out of 14 neonates (85.7%) had 25-hydroxy vitamin D (25OHD) levels <20 ng/mL and 9 neonates (64.3%) had 25OHD levels <10 ng/mL. Twenty-one neonates had hypocalcemic tetany. The serum calcium and iCa concentrations of neonates with tetany were 4.2-8.3 mg/dL and 1.85-3.88 mg/dL, respectively. Three neonates showed symptomatic hypocalcemia with calcium levels over 7.5 mg/dL. Among the 16 neonates who underwent electroencephalography (EEG), 12 had abnormalities, which normalized after 1-2 months. CONCLUSION: Formula milk feeding, PTH insufficiency and low serum vitamin D concentration are associated with the development of neonatal hypocalcemia. Symptoms such as tetany and QT interval prolongation can develop in relatively mild hypocalcemia. Moreover, transient neonatal hypocalcemia can cause transient EEG abnormalities.
Calcium ; Diagnosis ; Electroencephalography ; Humans ; Hypocalcemia* ; Infant, Newborn ; Medical Records ; Milk ; Parathyroid Hormone ; Phosphorus ; Tetany ; Vitamin D

DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing thymic shadow on their plain chest x-ray. Immunodeficient patients are traditionally known to be at an increased risk for malignancy, especially lymphoma. We experienced a 7-year-old DiGeorge syndrome patient with mediastinal mass shadow on her plain chest x-ray. She visited Severance Children's Hospital hospital with recurrent pneumonia, and throughout her repeated chest x-ray, there was a mass like shadow on anterior mediastinal area. We did full evaluation including chest computed tomography, chest ultrasonography, and chest magnetic resonance imaging. To rule out malignancy, video assisted thoracoscopic surgery was done. Final diagnosis of the mass which was thought to be malignancy, was lymphoproliferative lesion.
Child ; Diagnosis ; DiGeorge Syndrome* ; Humans ; Hypocalcemia ; Lymphoma ; Lymphoproliferative Disorders ; Magnetic Resonance Imaging ; Mediastinal Neoplasms ; Phenotype ; Pneumonia ; Thoracic Surgery, Video-Assisted ; Thorax ; Thymus Gland ; Ultrasonography

It is important to fast diagnosis and management of the pediatric patients of the endocrine metabolic emergencies because the signs and symptoms of these disorders are nonspecific. Delayed diagnosis and treatment may lead to serious consequences of the pediatric patients, for example, cerebral dysfunction leading to coma or death of the patients with hypoglycemia, hypocalcemia, adrenal insufficiency, or diabetic ketoacidosis. The index of suspicion of the endocrine metabolic emergencies should be preceded prior to the starting nonspecific treatment. Importantly, proper diagnosis depends on the collection of blood and urine specimen before nonspecific therapy (intravenous hydration, electrolytes, glucose or calcium injection). At the same time, the taking of precise history and searching for pathognomonic physical findings should be performed. This review was described for fast diagnosis and proper management of hypoglycemic emergencies, hypocalcemia, adrenal insufficiency, and metabolic acidosis including diabetic ketoacidosis.
Acidosis* ; Adrenal Insufficiency* ; Calcium ; Child* ; Coma ; Delayed Diagnosis ; Diabetic Ketoacidosis* ; Diagnosis ; Electrolytes ; Emergencies* ; Glucose ; Humans ; Hypocalcemia* ; Hypoglycemia*