Pheochromocytoma Developed in a Boy with Multiple Endocrine Neoplasia Type 2A Confirmed by the RET Proto-Oncogene Mutation / 임상소아혈액종양

A 9-year-old boy presented with increased sweating and abdominal pain. His mother and uncle had been diagnosed with bilateral pheochromocytoma and medullary thyroid carcinoma. Magnetic resonance imaging of the boy's abdomen revealed a 7.5 cm×7.0 cm×6.0 cm mass with a thick peripheral enhancing wall and fluid-fluid level at the right suprarenal region. His ¹²³I-meta-iodobenzylguanidine (MIBG) scan showed a large mass with increased MIBG uptake in the right adrenal gland. The levels of serum norepinephrine, urine epinephrine/norepinephrine, metanephrine, and vanillylmandelic acid were elevated. He, his mother, and two sisters tested positive for the known mutation of multiple endocrine neoplasia type 2A, Cys634Tyr in RET proto-oncogene. Laparoscopic tumor excision and right adrenalectomy were performed. Final diagnosis was pheochromocytoma with malignant behavior, based on adrenal gland scoring scale. However, there was no overt metastasis. After surgery, his symptoms resolved and abnormal laboratory tests were normalized.

Pheochromocytoma Developed in a Boy with Multiple Endocrine Neoplasia Type 2A Confirmed by the RET Proto-Oncogene Mutation / 임상소아혈액종양

A 9-year-old boy presented with increased sweating and abdominal pain. His mother and uncle had been diagnosed with bilateral pheochromocytoma and medullary thyroid carcinoma. Magnetic resonance imaging of the boy's abdomen revealed a 7.5 cm×7.0 cm×6.0 cm mass with a thick peripheral enhancing wall and fluid-fluid level at the right suprarenal region. His ¹²³I-meta-iodobenzylguanidine (MIBG) scan showed a large mass with increased MIBG uptake in the right adrenal gland. The levels of serum norepinephrine, urine epinephrine/norepinephrine, metanephrine, and vanillylmandelic acid were elevated. He, his mother, and two sisters tested positive for the known mutation of multiple endocrine neoplasia type 2A, Cys634Tyr in RET proto-oncogene. Laparoscopic tumor excision and right adrenalectomy were performed. Final diagnosis was pheochromocytoma with malignant behavior, based on adrenal gland scoring scale. However, there was no overt metastasis. After surgery, his symptoms resolved and abnormal laboratory tests were normalized.

Pathogenic Etiology and Clinical Indictors of Bacterial Infectoin in Febrile Infants Aged Less than 3 Months: A Single Institute Stduy / 계명의대학술지

To analyze the infectious causes and clinical symptoms of febrile infants aged less than 3 months presenting to a Pediatric Emergency Medical Center (PEMC) and to propose more efficient, evidence-based management and treatment. We conducted a retrospective study of 462 febrile infants aged less than 3 months who visited PEMC at Keimyung University Dongsan Medical Center from January 2015 to June 2016. Infants' sex, age, fever duration, and laboratory findings, including bacterial or viral pathogens, were recorded. To evaluate clinical signs, one point per sign was given for grunting, decreased activity, and the presence of cyanosis; total scores were compared between the bacterial infection (BI) and non-bacterial infection (NBI) groups. BI was diagnosed in 118 (25.5%) infants, and no BI was diagnosed in 344 (74.5%) infants. Escherichia coli was the most frequently isolated pathogen, accounting for 80.5% (n = 95) of all infections (n = 118). Statistically significant differences in sex, the duration of fever, sign scores, white blood cell count, neutrophil count, lymphocyte count, and C-reactive protein (CRP) level were found between the BI and NBI groups. The cut-off value for CRP was 1.445 mg/dL, with sensitivity and specificity values of 76.3% and 75.9%, respectively, in BI patients, as determined by the receiver operating characteristic curve. As more PEMCs are being built in Korea, hospital accessibility is better; thus, it may be possible to perform outpatient management of young, febrile infants aged younger than 3 months without antibiotics and lumbar puncture using individual sign scores and laboratory findings.

Multiple daily injection of insulin regimen for a 10-month-old infant with type 1 diabetes mellitus and diabetic ketoacidosis

The incidence of type 1 diabetes is increasing worldwide, and the greatest increase has been observed in very young children under 4 years of age. A case of infantile diabetic ketoacidosis in a 10-month-old male infant was encountered by these authors. The infant's fasting glucose level was 490 mg/dL, his PH was 7.13, his pCO₂ was 15 mmHg, and his bicarbonate level was 5.0 mmol/L. The glycosylated hemoglobin level had increased to 9.4%. Ketonuria and glucosuria were detected in the urinalysis. The fasting C-peptide and insulin levels had decreased. The infant was positive for anti-insulin and antiglutamic acid decarboxylase antibodies. Immediately after the infant's admission, fluid therapy and intravenous insulin infusion therapy were started. On the second day of the infant's hospitalization and after fluid therapy, he recovered from his lethargic condition, and his general condition improved. Feeding was started on the third day, and he was fed a formula 5 to 7 times a day and ate rice, vegetables, and lean meat. Due to the frequent feeding, the frequency of rapid-acting insulin injection was increased from 3 times before feeding to 5 times, adjusted according to the feeding frequency. The total dose of insulin that was injected was 0.8-1.1 IU/kg/day, and the infant was discharged on the 12th day of his hospitalization. The case is presented herein with a brief review of the relevant literature.

Multiple daily injection of insulin regimen for a 10-month-old infant with type 1 diabetes mellitus and diabetic ketoacidosis

The incidence of type 1 diabetes is increasing worldwide, and the greatest increase has been observed in very young children under 4 years of age. A case of infantile diabetic ketoacidosis in a 10-month-old male infant was encountered by these authors. The infant's fasting glucose level was 490 mg/dL, his PH was 7.13, his pCO₂ was 15 mmHg, and his bicarbonate level was 5.0 mmol/L. The glycosylated hemoglobin level had increased to 9.4%. Ketonuria and glucosuria were detected in the urinalysis. The fasting C-peptide and insulin levels had decreased. The infant was positive for anti-insulin and antiglutamic acid decarboxylase antibodies. Immediately after the infant's admission, fluid therapy and intravenous insulin infusion therapy were started. On the second day of the infant's hospitalization and after fluid therapy, he recovered from his lethargic condition, and his general condition improved. Feeding was started on the third day, and he was fed a formula 5 to 7 times a day and ate rice, vegetables, and lean meat. Due to the frequent feeding, the frequency of rapid-acting insulin injection was increased from 3 times before feeding to 5 times, adjusted according to the feeding frequency. The total dose of insulin that was injected was 0.8-1.1 IU/kg/day, and the infant was discharged on the 12th day of his hospitalization. The case is presented herein with a brief review of the relevant literature.

Formula fed twin infants with recurrent hypocalcemic seizures with vitamin D deficient rickets and hyperphosphatemia

Vitamin D deficient rickets is generally known to occur in breast fed infants. And excessive phosphate ingestion is a main cause of late onset hypocalcemia in formula fed infants. Here we introduce 45-day-old formula fed hypocalcemic twins with recurrent seizure attacks. They were diagnosed as having both of vitamin D deficient rickets and hyperphosphatemia. Radiologic findings indicated mild rickets and the twins were treated with calcium and alfacalcidol. After 3-5 months of oral supplementation, medication was discontinued in both twins. They showed normal growth and calcium, phosphorus, and vitamin D levels during the 6-month follow-up period. Twins can be at risk for hypocalcemia because of their high risk of vitamin D deficiency, low birth weight, and premature birth. Therefore twin pregnant women need ingestion of sufficient vitamin D and calcium.

Underlying Hemato-oncologic, Gastrointestinal-nutritional Diseases, or Prematurity May Be Risk Factors for Hypovitaminosi D in Children / 계명의대학술지

PURPOSE: An adequate vitamin D level is important for normal growth, cancer prevention, controlling hormones, and immune regulation. However, no study has investigated vitamin D status in patients with serious illnesses, such as malignancies, malabsorption diseases, or prematurity in Korean children. Thus, we analyzed the results of 25-hydroxyvitamin D3 (25-D) levels in children in a single tertiary medical center. METHODS: Children who had their vitamin D level evaluated at Keimyung University Dongsan Medical Center from January 2004 to December 2014 were included. We reviewed the medical records and laboratory test results. RESULTS: Ninety-three children (male:female = 48:45) who had their vitamin D levels measured were included. The most common reason for measuring vitamin D level was hypocalcemia with or without neurological signs. Among the subjects, 61 children had hypovitaminosis D (25-D < 30 ng/mL). A positive correlation was detected between 25-D and total calcium levels (p = 0.001). Negative correlations were found between 25-D and immunoreactive parathyroid hormone (iPTH) levels (p = 0.002) and between 25-D and alkaline phosphatase (ALP) levels (p = 0.021). Twenty-three subjects (37.7%) had a critical underlying condition, including a hemato-oncologic issue (18.0%), gastrointestinal or nutritional problem (11.5%), and prematurity or low birth weight (8.2%). CONCLUSION: The levels of total calcium, ALP, and iPTH were correlated with 25-D level. An underlying malignancy, malabsorption issues, or prematurity may be risk factors for hypovitaminosis D in children.