Hypoglycaemia is one of the most common causes of convulsions in neonatal period. Repeated hypoglycaemic convulsions have to be addressed with utmost urgency to prevent its morbid sequelae. Repeated ketotic hypoglycaemia in the infantile period needs detailed endocrine evaluation. Our patient is a boy in the third year of his life, had presented in infancy with hypoglycaemic convulsions and hyperpigmentation of skin and mucous membrane. Investigations revealed ketotic hypoglycaemia, hypocortisolaemia with high adrenocorticotropic hormone (ACTH) and normal aldosterone, 17-hydroxyprogesterone (17-OHP) and testosterone levels. This suggested isolated glucocorticoid deficiency without mineralocorticoid deficiency. He responded well to hydrocortisone therapy with resolution of symptoms and normalisation of lab parameters. Genetic study confirmed the diagnosis of familial glucocorticoid deficiency (FGD) with homozygous mutation in NNT (nicotinamide nucleotide transhydrogenase) gene with a novel p.Thr578lle variant. This is the first case of FGD with NNT mutation to be reported from the Indian subcontinent.

Immune checkpoint inhibitors have significantly improved the prognosis of metastatic melanoma, but metastases to the adrenal glands remain highly resistant to these new treatments. Adrenal gland metastases from melanoma can present in an unusual manner, such as in this report, making it diagnostically and therapeutically challenging. In this case report, we present a patient with histologically confirmed metastatic melanoma to the adrenal glands, a large intracardiac mass suspicious for metastatic disease, and an inferior vena cava thrombus. We review the existing literature to explain the unique characteristics, clinical relevance, pathogenesis, diagnosis, and treatment of adrenal gland metastases from melanoma.

A 68-year-old woman was admitted to the hospital for elective total knee arthroplasty in both knees without preceding heparin exposure. She developed adrenal haemorrhage and thrombocytopaenia on postoperative day 12, followed by right leg arterial occlusion and multiple venous intra-abdominal sites thrombosis. After given unfractionated heparin to treat arterial occlusion, platelet count was gradually declined. Spontaneous heparin-induced thrombocytopaenia was diagnosed by heparin-induced platelet activation test with light transmission aggregometry. The patient was successfully treated with fondaparinux and intravenous immunoglobulin. Apixaban was given after recovery of platelet count. Resolution of both thrombus along aorta and adrenal haemorrhage were shown by CT of whole abdomen after 2 months of treatment. Our case demonstrates that this serious complication is important but seldom recognised early.

暂无摘要。

We present a 52-year-old woman who was admitted to the emergency department with a short history of palpitations, sweating and nausea. An electrocardiogram (ECG) that was performed suggested inferolateral ischaemia with a significant troponin rise. The patient underwent an invasive coronary angiogram that showed mild non-obstructive coronary disease. She was thus given a provisional diagnosis of myocardial infarction with non-obstructive arteries (MINOCA), treated as an acute coronary syndrome (ACS) and subsequently discharged home. The patient represented within 72 hours with a recurrence of symptoms and a further troponin rise. While on the ward severe recurrent orthostatic hypertensive episodes were noted. Further investigations revealed increased urinary and plasma metanephrines, increased plasma catecholamines and imaging revealed a left adrenal 5.7 cm mass, demonstrating probable pheochromocytoma. The patient was treated with curative surgery. This case highlights the importance of thorough history-taking in patients with atypical symptoms for acute coronary syndrome and diagnosed with MINOCA.

A 41-year-old man presented with vomiting and loose stools. He had a history of long-term intermittent fever, generalised skin hyperpigmentation, dragging sensation in the left hypochondrium and unintentional weight loss. He was receiving combination antiretroviral therapy since 2010 for HIV infection. He also received antitubercular therapy for tuberculous spondylitis. During the hospital stay, he was found to have postural hypotension, hypoglycaemia, hyponatraemia, hyperkalaemia, pancytopenia, hypothyroidism, hyperglobulinaemia and hypoalbuminaemia with reversal of serum albumin/globulin ratio. The morning plasma cortisol was lower than normal and could not be appropriately stimulated after the Synacthen test. The bone marrow histopathology was suggestive of visceral leishmaniasis. He was diagnosed as a case of visceral leishmaniasis and HIV coinfection with primary adrenal insufficiency (Addison\'s disease) and primary hypothyroidism, as a rare and unusual presentation.

We present a unique case of metachronous adrenal and hepatic myelolipomas in a 62-year-old man. Myelolipomas are most commonly found in the adrenal gland, with extra-adrenal sites such as the lung, retroperitoneum and liver reported. They are a form of benign mesenchymal tumour, with only 25 case reports of a hepatic location published to date. The are no guidelines to its management. Our patient underwent resection due to pain, and after a complicated postoperative period is pain free.

Functioning thoracic paraganglioma (PGL) is rare in clinical practice. We present a 33-year-old man with this pathology, who came with right-sided chest pain and was found to have a right-sided paravertebral mass. Fine needle aspiration cytology revealed a PGL. Urine normetanephrine was elevated and meta- iodobenzylguanidine scan showed increased tracer uptake in the right hemithorax, suggestive of a functioning neuroendocrine tumour. The patient was subjected to right PGL excision by video-assisted thoracoscopic surgery, after adequate preoperative preparations. The perioperative period was uneventful, except for a transient rise in blood pressure during the surgery. His blood pressure continued to be normal in the postoperative period. In any patient with a paravertebral mass, the possibility of PGL should be kept in mind even if the patient is normotensive. Making a preoperative diagnosis is important, because excision of functioning PGL without adequate preoperative preparation may be detrimental.

Pseudohypoaldosteronism (PHA) due to obstructive uropathy, urinary tract infections and congenital urogenital malformations has been reported in the literature; however, there are no reports of PHA associated with hydrometrocolpos due to a common urogenital tract. Hydrometrocolpos is a condition resulting in distension of the vagina and uterus due to accumulation of secretions (other than blood), caused by increased oestrogenic stimulation and vaginal outflow obstruction. We report on a neonatal case of PHA caused by recurrent hydrometrocolpos presenting with vomiting and poor weight gain. There was significant hyponatraemia, hyperkalaemia, and anaemia requiring medical stabilisation prior to surgery. The mechanism by which PHA occurs in obstruction involves renal tubular dysfunction due to pressure from hydronephrosis and the release of intrarenal cytokines. In addition, there is an immature or resistant renal tubular responsiveness to aldosterone during infancy. Clinicians should be aware of this uncommon but serious presentation.

A 64-year-old man presented to the emergency department with generalised fatigue and dizzy spells. His background history includes a previous admission with right leg deep vein thrombosis, provoked by pneumonia. Laboratory results showed evidence of hyponatremia and hyperkalaemia. A synacthen test was performed that indicated hypoadrenalism. CT of his abdomen revealed enlarged adrenal glands bilaterally. Adrenal antibodies and positron emission tomography (PET) scan were performed to assess the cause of enlarged adrenals. PET scan showed no evidence of increased uptake. Adrenal antibodies were found to be negative. Tuberculous (TB) adrenalitis was the principle differential diagnosis. TB QuantiFERON was strongly positive. Following 9 months of TB treatment, surveillance CT scan indicated a significant reduction in adrenal gland size. However, subsequent events culminated in a retrospective review of CT scans questioning the initial clinical diagnosis and suggesting that the observed adrenal gland enlargement was secondary to bilateral adrenal infarction and haemorrhage. Equally, the subsequently observed marked reduction in adrenal gland size was not secondary to an assumed response to TB therapy, but rather the sequela of infracted atrophied adrenal glands, as a manifestation of the underlying antiphospholipid syndrome (APS). The case highlights the importance of recognising adrenal insufficiency in patients with a history of APS. It also illustrates the role of multidisciplinary meetings in the management of such complex cases.