Multiple endocrine neoplasia (MEN) 2B is charaterized by tumors of endocrine glands, consisting of medullary thyroid carcinoma (MTC), pheochromocytoma and mucosal neuromas of the tongue, lips and other sites. Especially, MTC is the main cause of death in patients who have not received early prophylactic treatment, and MTC in MEN 2B represents more aggressive progress than that of MEN 2A. We encountered two cases of multiple endocrine neoplasia type 2B. One was a 13 month old boy who had familial history of MEN 2B without any symptoms, and the other was a 6-year old boy who manifested multiple mucosal neuromas of the tongue which had been aggravated in four months. Their genetic analysis revealed a point mutation 918th cordon in the RET proto-oncogene. Both of them underwent an operation for prophylactic total thyroidectomy and the 6 year old boy's specimen turned out to be thyroid medullary carcinoma. We encountered two cases of MEN 2B with prophylactic thyroidectomy by early diagnosis of RET proto-oncogene, and report the cases with review of literature.

Tumor necrosis factor-alpha (TNF-alpha) is a major proinflammatory cytokine involved in the pathophysiology of juvenile rheumatoid arthritis. Etanercept is an effective inhibitor of TNF-alpha and has shown a beneficial effect in patients with JRA. However, the most important cause of concern related to etanercept administration is infection. We report a case of encephalitis in a JRA patient receiving long-term treatment with etanercept. The patient was a 4-year-old boy with refractory JRA, and he received etanercept subcutaneously at a dose of 0.4 mg kg(-1) day(-1) twice a week for 14 months, along with non-steroidal anti-inflammatory drugs, methotrexate, oral steroids, and sulfasalazine. The patient presented with sudden fever, headache, vomiting, a generalized tonic seizure, and changes in mental status. We suspected a central nervous system infection, and simultaneously administered antibiotics, an antiviral agent, and steroids. After 2 days of hospitalization, his mental function returned to normal, and he showed no further seizure-like movements. Brain magnetic resonance imaging scan of the patient showed a multifocal cortical lesion on both sides of the temporoparietooccipital lobe, which indicated encephalitis. Although we were unable to identify the causative organism of encephalitis, we think that the encephalitis may be attributed to infection, and the use of etanercept may have increased the risk of severe infection. Therefore, etanercept was discontinued and the patient recovered shortly after. To the best of our knowledge, this is the first case of encephalitis in a juvenile rheumatoid arthritis patient treated with etanercept.
Anti-Bacterial Agents ; Arthritis, Juvenile Rheumatoid ; Brain ; Central Nervous System Infections ; Encephalitis ; Fever ; Headache ; Hospitalization ; Humans ; Immunoglobulin G ; Magnetic Resonance Imaging ; Methotrexate ; Preschool Child ; Receptors, Tumor Necrosis Factor ; Seizures ; Steroids ; Sulfasalazine ; Tumor Necrosis Factor-alpha ; Vomiting ; Etanercept

This study was done to characterize the natural course of C-peptide levels in patients with type 1 diabetes and identify distinguishing characters among patients with lower rates of C-peptide decline. A sample of 95 children with type 1 diabetes was analyzed to retrospectively track serum levels of C-peptide, HbA1c, weight, BMI, and diabetic complications for the 15 yr after diagnosis. The clinical characteristics were compared between the patients with low and high C-peptide levels, respectively. The average C-peptide level among all patients was significantly reduced five years after diagnosis (P < 0.001). The incidence of diabetic ketoacidosis was significantly lower among the patients with high levels of C-peptide (P = 0.038). The body weight and BMI standard deviation scores (SDS) 15 yr after diagnosis were significantly higher among the patients with low C-peptide levels (weight SDS, P = 0.012; BMI SDS, P = 0.044). In conclusion, C-peptide level was significantly decreased after 5 yr from diagnosis. Type 1 diabetes patients whose beta-cell functions were preserved might have low incidence of diabetic ketoacidosis. The declines of C-peptide level after diagnosis in type 1 diabetes may be associated with changes of body weight and BMI.
Adolescent ; Body Mass Index ; Body Weight ; C-Peptide/*blood ; Child ; Child, Preschool ; Diabetes Complications ; Diabetes Mellitus, Type 1/blood/*diagnosis ; Diabetic Ketoacidosis/epidemiology ; Diabetic Retinopathy/epidemiology ; Female ; Follow-Up Studies ; Hemoglobin A, Glycosylated/analysis ; Humans ; Incidence ; Infant ; Male ; Peripheral Nervous System Diseases/epidemiology ; Retrospective Studies

Diabetic nephropathy is a common and serious complication in diabetic patients. Renal diseases other than diabetic nephropathy (non-diabetic nephropathy) can occur in diabetic patients with nephrosis. The presence of non-diabetic nephropathy is noted in type 2 diabetes patients, but no data exists for type 1 diabetes. In this report we describe the case of a 15-year-old girl with type 1 diabetes mellitus, who presented with an acute elevation of urinary microalbumin excretion, general edema, and liver enzyme elevation. She had shown microalbuminuria about 3 years earlier, as well as an uncontrolled hemoglobin A1c level, but she had no diabetic retinopathy and neuropathy. A renal biopsy was conducted, and she was diagnosed with primary focal segmental glomerulosclerosis. She was treated with corticosteroids and an angiotensin converting enzyme inhibitor.
Adolescent ; Adrenal Cortex Hormones ; Biopsy ; Diabetes Mellitus, Type 1 ; Diabetic Nephropathies ; Diabetic Retinopathy ; Edema ; Glomerulosclerosis, Focal Segmental ; Hemoglobins ; Humans ; Liver ; Nephrosis ; Peptidyl-Dipeptidase A

PURPOSE: Insufficient production of the parathyroid hormone (PTH) by the parathyroid glands known as hypoparathyroidism, or a resistance against its action on target organs known as pseudohypoparathyroidism, cause PTH-related hypocalcemia associated with hyperphosphatemia. Signs and symptoms are caused by hypocalcemia. This study aimed to assess clinical characteristics, treatment, severity, onset time, and therapeutic responses of hypoparathyroidism and pseudohypoparathyroidism. METHODS: From January 2000 to February 2010, 21 hypoparathyroid and 10 pseudohypoparathyroid children were selected from Severance Hospital. Clinical manifestations and laboratory data were analyzed retrospectively. RESULTS: In hypoparathyroid patients, there were 14 with idiopathic hypothyroidism (66%) and 7 with 22q11.2 deletion syndrome (33%). Patients with hypoparathyroidism had more frequent neurologic symptoms compared to those with pseudohypoparathyroidism (2.89 +/- 1.75 vs. 1.25 +/- 1.67, P = 0.01). Required amounts of calcium to control hypocalcemia were larger in hypoparathyroidism than in pseudohypoparathyroidism (37.98 +/- 26.64 vs. 15.64 +/- 7.87 mg/day/kg, P = 0.034). After treatment, neurologic symptoms decreased significantly in hypoparathyroidism (P < 0.05) from 2.01 +/- 1.68 to 0.89 +/- 0.96. CONCLUSION: Hypoparathyroidism presented more severe symptoms than pseudohypoparathyroidism. Larger amounts of calcium were required to correct hypocalcemia in hypoparathyroidism than in pseudophypoparathyroidsm. These differences may be explained by the findings that distal tubules respond to PTH, in contrast to proximal tubules, in pseudohypoparathyroidism, because the GNAS gene coding is not imprinted at the distal tubular cells responsible for calcium reabsorption.
Calcium ; Child ; Clinical Coding ; DiGeorge Syndrome ; Humans ; Hyperphosphatemia ; Hypocalcemia ; Hypoparathyroidism ; Hypothyroidism ; Neurologic Manifestations ; Parathyroid Glands ; Parathyroid Hormone ; Pseudohypoparathyroidism

PURPOSE: Sex hormone-binding globulin (SHBG) modulates the availability of biologically active free sex hormones. The regulatory role of SHBG might be important in the relationship between hormone levels and the modification of lipid profiles in girls with precocious puberty. However, few studies have evaluated the relationship of SHBG, free estradiol index (FEI), and lipid levels in these girls. METHODS: One hundred and nine girls less than 8 years of age with pubertal development were enrolled. FEI was calculated with SHBG and estradiol (E2). We analyzed SHBG between peak luteinizing hormone (LH)> or =5 (IU/L) (group 1) and LH<5 (IU/L) (group 2) through a gonadotropin releasing hormone stimulation test. RESULTS: Body mass index (BMI) standard deviation score (SDS) was higher in group 2 than in group 1 (P=0.004). Serum SHBG levels did not differ and FEI was not higher in group 1 (P=0.122). Serum cholesterol, HDL, and LDL did not differ; however, triglyceride levels were higher in group 2 (P=0.023). SHBG was negatively correlated with bone age advancement, BMI, BMI SDS, and FEI, and was positively correlated with HDL. However, SHBG was not correlated with E2 or peak LH. CONCLUSION: Serum SHBG itself might not be associated with precocious puberty in girls, but it might be related to BMI and lipid profiles. Further studies are needed to reveal the relationship between sex hormone and obesity in girls with precocious puberty.
Body Mass Index ; Cholesterol, HDL ; Estradiol ; Gonadal Steroid Hormones ; Gonadotropin-Releasing Hormone ; Luteinizing Hormone ; Obesity ; Puberty, Precocious ; Sex Hormone-Binding Globulin

PURPOSE: Sex hormone-binding globulin (SHBG) modulates the availability of biologically active free sex hormones. The regulatory role of SHBG might be important in the relationship between hormone levels and the modification of lipid profiles in girls with precocious puberty. However, few studies have evaluated the relationship of SHBG, free estradiol index (FEI), and lipid levels in these girls. METHODS: One hundred and nine girls less than 8 years of age with pubertal development were enrolled. FEI was calculated with SHBG and estradiol (E2). We analyzed SHBG between peak luteinizing hormone (LH)> or =5 (IU/L) (group 1) and LH<5 (IU/L) (group 2) through a gonadotropin releasing hormone stimulation test. RESULTS: Body mass index (BMI) standard deviation score (SDS) was higher in group 2 than in group 1 (P=0.004). Serum SHBG levels did not differ and FEI was not higher in group 1 (P=0.122). Serum cholesterol, HDL, and LDL did not differ; however, triglyceride levels were higher in group 2 (P=0.023). SHBG was negatively correlated with bone age advancement, BMI, BMI SDS, and FEI, and was positively correlated with HDL. However, SHBG was not correlated with E2 or peak LH. CONCLUSION: Serum SHBG itself might not be associated with precocious puberty in girls, but it might be related to BMI and lipid profiles. Further studies are needed to reveal the relationship between sex hormone and obesity in girls with precocious puberty.
Body Mass Index ; Cholesterol, HDL ; Estradiol ; Gonadal Steroid Hormones ; Gonadotropin-Releasing Hormone ; Luteinizing Hormone ; Obesity ; Puberty, Precocious ; Sex Hormone-Binding Globulin

Hypomagnesemia may arise from various disorders such as renal magnesium wasting, familial hypomagnesemia, inadequate intake and increased gastrointestinal loss. Hypomagnesemia and hypocalcemia were found in a month-old female patient with generalized tonic-clonic seizure. Twenty-four hour urine collection samples were used to assess renal magnesium wasting; fractional excretion of 24-hr urine magnesium was less than 1.45%, i.e., within the normal limits. The patient had no history of chronic diarrhea or failure to thrive, which supports the conclusion that intake was adequate. She had no family history of hypocalcemia, hypomagnesemia, or seizures. Here, we report a case of idiopathic hypomagnesemia.
Diarrhea ; Failure to Thrive ; Female ; Humans ; Hypocalcemia ; Magnesium ; Seizures ; Urine Specimen Collection

PURPOSE: Noonan syndrome (NS) is characterized by short stature, congenital heart defects, mild mental retardation, and characteristic faces. We investigated the efficacy of growth hormone (GH) treatment and the adverse effect compared to sex and age-matched patients with growth hormone deficiency (GHD). METHODS: We included patients whose Noonan scores were over 60, treated with GH in Severance Children's Hospital. We analyzed height and height velocity before and during GH treatment in 14 NS patients (0.81 +/- 0.13 U/kg/wk) and also in 42 patients with sex- and age-matched GHD as a control group (0.78 +/- 0.17 U/kg/wk) at intervals of 3 months. RESULTS: At the start of GH treatment, mean age was 10.0 +/- 2.4 years, and mean height was 123.3 +/- 13.5 cm, and the height SDS was -2.79 +/- 0.85 in NS, while the mean age was 10.3 +/- 2.6 years, mean height was 119.6 +/- 13.5 cm, and the height SDS was -3.43 +/- 1.56 in GHD. Mean duration was 3.8 +/- 2.1 years in NS and 4.9 +/- 2.4 years in GHD. Mean height SDS increased from -2.79 SDS to -1.94 SDS in NS (p = 0.007) and from -3.43 SDS to -1.82 SDS in GHD (p 0.0001). Growth velocity increased from 3.7 +/- 1.2 cm/yr to 8.5 +/- 2.5 cm/yr (p < 0.0001) and 6.5 +/- 2.9 cm/yr (p = 0.016) during the first and second years of GH treatment, respectively, in NS and from 3.4 +/- 1.5 cm/yr to 8.8 +/- 2.3 cm/yr (p < 0.0001) and 8.1 +/- 3.2 cm/yr (p < 0.0001) in GHD. No severe adverse effects were observed during treatment. CONCLUSION: GH treatment in the NS patients increased growth velocity significantly, especially during the 1st year of treatment. GH treatment in NS is thought to be effective and relatively safe.
Growth Hormone ; Heart Defects, Congenital ; Humans ; Intellectual Disability ; Noonan Syndrome ; Treatment Outcome

BACKGROUND: Both the Trendelenburg position and pneumoperitoneum with carbon dioxide have been reported to increase intracranial pressure (ICP) and to alter cerebral blood flow or cerebral blood volume. Also anesthetic agents have variable effects on cerebral hemodynamics and ICP. The present study was conducted to determine whether regional cerebral oxygen saturation (rSO2) values differ between propofol and sevoflurane anesthesia during laparoscopic surgery in the Trendelenburg position. METHODS: Thirty-two adult women undergoing gynecological laparoscopic surgery were divided into sevoflurane and propofol groups. rSO2 values were recorded at 10 min after induction in the neutral position (Tpre), 10 min after the pneumoperitoneum in the Trendelenburg position (Tpt) and 10 min after desufflation in the neutral position (Tpost). For analysis of rSO2, we did ANOVA and univariate two-way ANCOVA with covariates being mean arterial pressure and end tidal carbon dioxide tension. RESULTS: Between sevoflurane and propofol groups, the change in rSO2 was significantly different even after ANCOVA. rSO2 at Tpt (76.3 +/- 5.9% in sevoflurane vs 69.4 +/- 5.8% in propofol) and Tpost (69.5 +/- 7.1% in sevoflurane vs 63.8 +/- 6.6% in propofol) were significantly higher in the sevoflurane group compared with the propofol group. In the propofol group, rSO2 at Tpost was significantly lower than at Tpre (71.1 +/- 4.8%) and cerebral oxygen desaturation occurred in two patients (14.3%). CONCLUSIONS: Significantly lower rSO2 values were observed in the propofol group during gynecological laparoscopic surgery. The possibility of cerebral oxygen desaturation should not be overlooked during propofol anesthesia even after desufflation of the abdomen in the neutral position.
Abdomen ; Adult ; Anesthesia ; Anesthetics ; Antigens, Ly ; Arterial Pressure ; Blood Volume ; Carbon Dioxide ; Female ; Head-Down Tilt ; Hemodynamics ; Humans ; Hypoxia, Brain ; Intracranial Pressure ; Isoantigens ; Laparoscopy ; Methyl Ethers ; Oxygen ; Pneumoperitoneum ; Propofol ; Prostaglandins, Synthetic ; Spectroscopy, Near-Infrared