ACTA ENDOCRINOLOGICA (BUC)

Chest pain in children is a common referral for emergency examination, although it is believed that the underlying condition is not a serious event. The authors present the case of a 17 years old male with complaints of chest pain with a very recent onset, constant, experienced after physical effort. All medical history and physical examination findings were normal, the poster-anterior chest X-ray revealed a heterogenous opacity in the middle third of the right hemithorax confirmed on computerized tomography as a large solid anterior mediastinal mass with a diameter of 7.5/10.3 cm. By thorax surgery the mass was identified in the anterior and superior mediastinum and total resection was achieved for the tumor mass and thymus. Pathology examination showed poor small and medium epithelial cells proliferation and the tumor was classified as thymoma type 1B. Mediastinum is a rare location of space occupying processes in children. Also, there is a high rate of asymptomatic lesions in this area, considering that half of them are incidentally discovered for various chest X ray examinations. Many causes of chest pain in children are benign; nonetheless, some serious events do exist sometimes and pediatricians must pay attention to identify and manage those cases.

We describe one case of sellar and suprasellar chordoma found in a 44 year old female, with bitemporal hemianopsia and secondary amenorrhea, submitted to transfrontal surgery and telecobaltotherapy. Chordomas are slow growing neoplasms arising from notochordal remnants of the axial skeleton. The second most common site for chordomas, after the sacrococcygeal region, is the base of the skull. Skull base chordomas commonly result in cranial nerve deficits, such as blurred vision, facial weakness and swallowing difficulty. Occasionally, chordomas localized in the hypothalamic or pituitary region may lead to pituitary stalk disjunction, pituitary insufficiency and diabetes insipidus. Studies show that early diagnosis, combined with aggressive surgical resection, offers the best chance for long-term survival. Although optimal treatment consists of wide excision with adjuvant radiotherapy, skull base chordomas are rarely amenable to complete surgical removal. Traditionally, postoperative irradiation is delivered to doses of 6000-6500 cGy; however this approach controls the chordoma only for a few years. Prognosis depends on the histological grade of the tumor, atypical chordomas showing the lowest survival rate.

Adrenoleukodystrophy (ALD) is a hereditary metabolic disease X-linked (Xq28) with autosomal recessive traits, secondary to a mutation in the ABCD1 gene. The case of a boy aged 7 years and 10 months admitted for vision disturbances, muscle weakness, balance disturbances and spastic paraparesis is presented. Seventeen months prior to this admission, the child was diagnosed with acute adrenal insufficiency and was still on replacement therapy with dexamethasone and fludrocortisone. While on therapy the child presented several relapses that required treatment correction. MRI revealed cerebral atrophy lesions, which, together with the laboratory findings and clinical symptoms, conducted the diagnosis of ALD. This diagnosis was also supported by the pathogenic mutation detected in the ACBD1 gene identified in the pacient and patient?s mother and sister. The child died 8 months after the onset of neurological signs. Childhood ALD is classified as classical ALD form, the most frequent, affecting only boys aged 4 to 10 years. Family screening obliged by the identification of the homozygotes is helpful for the early therapy of heterozygotes, genetic counseling and disease prevention. The prognosis is still poor, the available treatment being hormone substitution therapy and psychological support.

A 5 year 2 months old boy was admitted in our hospital for failure to thrive, muscle weakness, bowing of legs, walking difficulties. At the age of 14 months he had been investigated for failure to thrive. Clinical, biochemical and radiologic signs were suggestive for rickets. Positive celiac serology and histology of the small bowel were consistent with the diagnosis of celiac disease (CD). Treatment included parenteral vitamin D and gluten free diet. The parents did not accept the diet, but the child received a daily vitamin D supplementation of 1000 IU. At the age of 4 years celiac serology was positive and the second duodenal biopsy was normal. \r\nPhysical examination, biochemical data, and rachitic changes on x-ray were compatible with the diagnosis of rickets. Clinically severe rickets, hypocalcemia, elevated level of PTH demonstrating secondary hyperparathyroidism, and low level of calcitriol determined the diagnosis of vitamin D-dependent rickets type I (VDDR I). Although being on a normal diet, tissue antitransglutaminase antibodies were negative, but HLA genotyping showed DQ2 positive. \r\nThe patient associated the diagnosis of VDDR I and latent CD. The VDDR I was masked by CD, rickets being attributed to malabsorption.

Background and aim. The goals of bariatric surgery are to improve the quality of life by lowering body mass index (BMI) but also to treat obesity comorbidities. The aim of our study was to evaluate the impact of laparoscopic sleeve gastrectomy (LSG) on metabolic parameters. Methods. 85 obese patients treated by bariatric surgery LSG procedure were included in the study. Basal, 6 and 12 months after surgery serum glucose levels and lipid fractions were measured. Metabolic syndrome criteria according to IDF 2006 were evaluated at baseline and after bariatric surgery. Results. Our group included 61.2 % female patients, the mean age was 40.2 ±10.2 years and the metabolic syndrome criteria at baseline were confirmed in 69.4% of the study group. At twelve months after the intervention, the mean excess weight loss (%EWL) was 72%, with age and BMI subgroups variations. We found significant improvements of serum concentrations for triglycerides (P-value = 0.001, decreased by 30%), HDL-cholesterol (P-value = 0.017, increased by 26%), total cholesterol (P-value = 0.043, decreased by 12%) and glucose (P-value = 0.007, decreased by 12%). Conclusions. The positive effect of bariatric surgery was confirmed for lipid fractions and fasting glucose levels, also the metabolic syndrome prevalence was significantly reduced, all these changes contribute to lower cardiovascular risk together with significant weight loss.