ACTA ENDOCRINOLOGICA (BUC)

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.

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.