Emine Ayça Cimbek

Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Abstract Calcium pyrophosphate dehydrate (CPPD) crystal deposition disease (also known as chondrocalcinosis, CC) is a rare metabolic arthropathy mostly seen in elderly patients. Chondrocalcinosis may be associated with metabolic diseases such as hypomagnesemia when it occurs in young people. We report here a case with hypomagnesemia due to familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) who developed CC during clinical follow-up. To our best knowledge this is the first case of a young patient with CPPD associated with FHHNC.

Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine.

Abstract Association of Kocher-Debré-Semelaigne syndrome–a myopathy of hypothyroidism in childhood characterized by muscular hypertrophy, with rhabdomyolysis is very rare. We present a case of Kocher-Debré-Semelaigne syndrome with rhabdomyolysis secondary to Hashimoto’s thyroiditis. He had muscular symptoms simulating poly/dermatomyositis, massively elevated creatine kinase (CK) levels and high creatinine levels. All of the findings reversed on treatment of hypothyroidism. The response to the therapy strongly suggested that Kocher-Debré-Semelaigne (KDS) syndrome was the underlying etiology. Serum thyroid- stimulating hormone levels should be routinely determined in all patients with muscular symptoms and/or elevation of CK and creatinine, keeping KDS syndrome in mind.

Marine-Lenhart syndrome in a young girl.

Abstract Graves’ disease is the most common reason of hyperthyroidism in children. Graves’ disease with accompanying functioning nodules is defined as Marine-Lenhart syndrome. This syndrome has not been described in children before. Here, a 15-year-old girl with Graves’ disease and a coexisting cold nodule is presented. A thyroid scan showed diffuse uptake of Tc-99m pertechnatate in both lobes and decreased uptake in accordance with the left lobe nodule. The nodule was histologically diagnosed as benign. The patient was diagnosed with type 1 diabetes mellitus and polyglandular autoimmune syndrome during clinical follow-up. The differential diagnoses of Graves’ disease with coexisting nodules should include the Marine-Lenhart syndrome. Treatment options should be determined taking this rare condition into account.

Decidual Cast after Discontinuation of Oral Contraceptives Use in a Young Girl

BACKGROUND The differential diagnosis of tissue passed per vagina in a young girl includes aborted pregnancy, rhabdomyosarcoma, polyp, and very rarely decidual cast. CASE A 10-year-old girl using oral contraceptives for menorrhagia presented with a decidual cast after discontinuing the drug. Symptoms disappeared during clinical follow-up without any intervention. CONCLUSIONS Decidual cast formation is an unusual entity of unknown origin. Its generally seen during treatment with variable contraceptives. This is the first case described with desogestrel and it occurred after discontinuing treatment.

Growth Patterns of Children of Same Geographic Background Reared in Different Environments

Objective: Growth charts are essential tools used to assess children’s health status. The aim of the present study was to determine the effect of environmental factors on the growth of children of a common geographic background. We constructed growth charts for children living in the East of Turkey and compared them with those for Turkish children living in other regions or countries. Methods: Growth data were obtained from 6 917 school children living in Eastern Turkey. The median values on smoothed percentile curves for the study subjects were compared with those for Turkish children living in the West of Turkey, in Western Europe and in Germany. Results: Children living in Turkey were lighter than their European peers at early ages. Weight curves of children living in the West of Turkey reached those of their European peers, after 11 years of age in boys and after 12 years of age in girls. At all ages, girls and boys in our region had the lowest weight values. Between 7 and 11 years of age, the median height in boys and girls were similar in the West of Turkey and in Europe. At older ages, median height was higher in Turkey. Girls and boys living in Eastern Turkey were the shortest children until 16 years of age; after that age, their height was similar to their peers. Conclusions: Weight may interact with environmental factors, but genetic potential appears to be the most important factor determining height at 17 years of age. Growth patterns of children should be evaluated using specific reference values for specific regions.

Successful treatment of life-threatening severe metabolic acidosis by continuous veno-venous hemodialysis in a child with diabetic ketoacidosis

Diabetic ketoacidosis (DKA), which is characterized by hyperglycemia, metabolic acidosis, and ketonemia, is an acute complication of type 1 diabetes and is the most important cause of morbidity and mortality [1–3]. In this article, we present a child patient with DKA, who did not respond to fluid and insulin therapy and had life-threatening severe metabolic acidosis, but who was successfully treated by continuous veno-venous hemodialysis (CVVHD). A 13-year-old girl had complaints of excessive consumption of water and frequent urination for a week. It was learned that she had been admitted to another hospital due to nausea, vomiting, fatigue, and respiratory distress for the last 2 days and had been diagnosed with DKA. She was referred to our pediatric intensive care unit (PICU) after 20 mL/kg of 0.9% sodium chloride (NaCl) solution was started. On physical examination, she had severe dehydration and cloudy consciousness. The two pupils were equal in size and constricted in response to a bright light. She had a Glasgow Coma Scale (GCS) score of 10. She had tachypnea (42/min) and tachycardia (142/min). Blood pressure, body temperature, capillary refill time, and other systemic findings were normal. Blood gas analysis showed severe metabolic acidosis (pH: 6.83, pCO2: 15.2 mmHg, HCO3: 4.8 mmol/L, lactate: 1.6 mmol/L, anion gap: 31). A complete blood count revealed leukocytosis (60,290/mm3). In biochemical analysis, the glucose level was 550 mg/dL (30.5 mmol/L), urea level was 52.1 mg/dL, creatinine level was 1.16 mg/dL, and uric acid level was 9 mg/dL. Other biochemical and electrolyte values were normal (sodium: 135 mmol/L, potassium: 4.5 mmol/L, calcium: 9.1 mg/dL, chloride: 96.5 mmol/L, phosphorus: 4.9 mg/dL, and magnesium: 1.9 mg/dL). Effective serum osmolality was calculated as 300 mOsm/kg (normal: 285–295). She had a high level of hemoglobin A1c (8.4%; normal: 4–6%) and a low level of C-peptide (0.367 ng/mL; normal: 1.1–4.4 ng/mL), which were compatible with type 1 diabetes. The urine density was 1030. Complete urinalysis revealed glycosuria (+4) and ketonuria (+4). Oxygen therapy was started with a non-rebreathing reservoir mask. As she had severe dehydration, 20 mL/kg of 0.9% NaCl solution was again administered. Then, the appropriate amount of potassium containing 0.9% NaCl solution was administered at 4000 mL/m2/day (the first infusion volume of 0.9% NaCl solution and the volume of insulin infusion were subtracted from the calculated fluid volume). Insulin infusion at 0.1 U/kg/h was simultaneously started through the same venous pathway. Fluid-electrolyte therapy and insulin infusion were dynamically adjusted according to serum glucose, electrolyte values, and blood gas. She had adequate urine output. The kidney function parameters and leukocyte count decreased to normal levels. Despite the treatment with appropriate fluid, insulin and two infusions of sodium bicarbonate, severe metabolic acidosis did not improve in the following 14 h (Figure 1). During this period, insulin and fluid therapy were repeatedly controlled. The GCS score decreased to 9 and respiratory distress worsened. Therefore, a 12-fr hemodialysis catheter was placed in the right subclavian vein, and CVVHD [ABYLE HFT 14 (low-flux polyphenylene fiber and 1.4 m2 surface area) Bellco®, Mirandola, Italy] was started. In the first 2 h, the dialysate flow rate was set at 4000 mL/h/1.73 m2. As there *Corresponding author: Osman Yesilbas, MD, Pediatric İntensive Care Specialist, University of Health Sciences, Van Training and Research Hospital, Pediatric Intensive Care Unit, Van, Turkey, Phone: +90 533 541 97 22, E-mail: drosmanyesilbas@gmail.com Ela Cem: University of Health Sciences, Van Training and Research Hospital, Pediatrics, Van, Turkey Emine Ayca Cimbek: University of Health Sciences, Van Training and Research Hospital, Pediatric Endocrinology, Van, Turkey

Detection of h-FABP (heart-type fatty acid binding protein) Levels in Diabetic Ketoacidosis and Identification of Early Cardiac Effects of Ketoacidosis.

Objective: This study aimed to measure the serum levels of heart-type fatty acid binding protein (H-FABP) in patients presenting with diabetic ketoacidosis (DKA) and diabetic ketosis (DK) and to determine its role in identifying early-period cardiac ischemia. Methods: This prospective study included 35 patients diagnosed with DKA, 20 patients diagnosed with DK, and 20 control subjects. H-FABP, creatine kinase-MB (CK-MB), and troponin I levels were investigated at presentation in patients with DKA and DK and in the control group. H-FABP values were measured again after acidosis correction in the DKA patients. Results: No statistically significant differences were found with respect to troponin I and CK-MB within the groups. The H-FABP values of DKA patients at presentation were found to be significantly higher than those of DK patients and the control group (p=0.015). The H-FABP value of the DKA group was also found to be significantly higher than the value at hour 36 after acidosis correction (p=0.0001). Conclusion: We would like to propose H-FABP as a potential marker for indicating myocardial ischemia.

The Relationship between Metabolic Parameters, Cardiac Parameters and MIC-1/GDF15 in Obese Children

Objective: Childhood obesity which is a predictor of adulthood obesity is associated with type 2 diabetes, metabolic syndrome, dyslipidemia, coronary artery diseases and subclinical inflammation. Growth differentiation factor-15, also known as macrophage inhibitory cytokine-1 (MIC-1/GDF15) is a member of the transforming growth factor- β super family and increases during inflammatory states. Adults with obesity have increased serum concentrations of MIC-1/GDF15. MIC-1/GDF15 is associated with cardio metabolic risk in adults. Design: Identification of obese children at higher risk for cardio metabolic complications is important. The relations of MIC-1/GDF15 to parameters of obesity in children have never been studied. Methods: We measured serum MIC-1/GDF15 concentration in obese children by ELİSA and evaluated its relationship with anthropometric, biochemical and echocardiographic parameters. Results: No significant difference in serum MIC-1/GDF15 between normal-weight and obese children was observed. MIC-1/GDF15 was positively correlated with CRP, ALT and aortic dimension when normal-weight and obese children were analyzed together. Conclusions: MIC-1/GDF15 may provide a link between childhood obesity and cardio metabolic complications that will occur in time course. Further work would be required to find out if MIC-1/GDF15 has any role in the early inflammatory, cardiac and metabolic changes in childhood obesity.