PGL4 syndrome in a patient with synchronous paraganglioma-pheochromocytoma.

Pheochromocytoma and paraganglioma (PGL) are rare neuroendocrine tumours, frequently associated with genetic syndromes. We report the case of a man in his 40s with a left anterior neck mass and a history of hypertensive crisis, heavy sweating and constipation. Biochemical tests showed increased plasma and urine normetanephrines. Neck ultrasound suggested left carotid body PGL, but it was mandatory to search for other lesions. Whole-body MIBG failed to show abnormal uptake. Abdominal MRI was suggestive of another PGL, anterior to the right adrenal gland. Abdominal surgery was performed uneventfully under alpha and beta blockers. This intervention proved to be effective, as normetanephrines levels became completely normal after 1 month. Carotid body PGL was successfully excised 4-months later. Genetic study identified a large deletion in exon 1 of the SDHB gene allowing the diagnosis of paraganglioma syndrome type 4 (PGL4). After 19 months of follow-up, he is still on clinical and biochemical remission and will continue life-long surveillance.

Multifactorial diabetes insipidus during pregnancy: a challenging diagnosis.

Diabetes insipidus (DI) is characterised by thirst and polydipsia with hypotonic polyuria. Several forms exist, namely, central or pituitary, nephrogenic and gestational and must be differentiated for adequate treatment. We describe the case of a 41-year-old woman chronically infected with HIV who had been recently medicated with a tenofovir-based antiretroviral treatment and who, at 22 weeks of pregnancy, presented with transient gestational DI. Obstetric ultrasound revealed oligohydramnios and foetal growth restriction that did not improve despite serum sodium correction. The severity of the case suggested the presence of an underlying disorder and elevated copeptin levels indicated that an underlying subclinical form of nephrogenic DI, possibly induced by HIV-related nephropathy or tenofovir use, was present and rendered clinically overt during pregnancy.

Thyroid tuberculosis: an unexpected diagnosis.

Mycobacterium tuberculosis (MTB) is an aerobic bacillus responsible for tuberculous infection. The the thyroid gland being affected by MTB is a rare condition. A 71-year-old woman had 6 months of slight cervical discomfort. Her neck ultrasound showed, at the right lobe of the thyroid, a dominant heterogeneous nodule of 18 mm and homolateral lymph nodes with suspicious ultrasonographic features. The patient underwent fine-needle aspiration, the results of which were non-diagnostic (thyroid nodule) and reactive pattern (lymph node). A total thyroidectomy was performed and a lymph node was sampled for extemporaneous examination. Surprisingly, necrotising granulomas were documented. The diagnosis was definitely established by a positive culture of the lymph node tissue and molecular detection of MTB. Pulmonary involvement was excluded and she was started on antituberculous agents. In the absence of systemic, specific complaints or history of exposition, histopathology and culture of MTB remain a key step for the diagnosis.

Autosomal dominant hypocalcaemia: identification of two novel variants of CASR gene.

Autosomal dominant hypocalcaemia is a rare aetiology of hypocalcaemia, caused by gain-of-function mutations of the calcium-sensing receptor (CASR) gene. We present two cases of two asymptomatic women (50-year-old-case 1 and 25-year-old-case 2), referred to our endocrinology department for investigation of hypocalcaemia, hyperphosphatemia and inappropriately low parathormone. Both patients had relatives with the same laboratorial findings. At diagnosis, both patients presented basal ganglia calcifications. Genetic analysis was performed, identifying two novel heterozygous CASR variants: c.2269G>A (p.Glu757Lys) and c.2086C>G (p.Leu696Val), respectively, for case 1 and case 2. Affected individuals started oral calcium and vitamin D analogues, aiming to a low-normal calcium level. They remain under observation and are asymptomatic.

Ecologia e desenvolvimento sustentável: o espaço urbano e a biodiversidade

Programa de Paula Bacelar Nicolau, professora da Universidade Aberta (Lisboa) sobre ecologia e desenvolvimento sustentável no espaço urbano de grande diversidade biológica ... Referência videográfica: Nicolau, Paula Bacelar - Ecologia e desenvolvimento sustentável [Em linha]: o espaço urbano e a biodiversidade. Lisboa : Universidade Aberta. SPD; Madrid : UNED, 2015. 1 prog. vídeo (07 min., 47 seg.) Link do vídeo: http://www2.uab.pt/TVUAb/videoDetail.php?Video=368&Menu=22