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  1. Wan Muhamad Hatta SF, Lekkakou L, Viswananth A, Buch H
    BMJ Case Rep, 2019 Aug 20;12(8).
    PMID: 31434676 DOI: 10.1136/bcr-2019-230636
    Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is rarely caused by a phaeochromocytoma. We report a case of a 51-year-old woman with an 8-year history of severe constipation who underwent extensive investigations including gastroscopy, colonoscopy, ultrasonography, colonic transit studies and isotope defeacography, which did not reveal any pathology other than slow colonic transit time. The unifying diagnosis of ectopic ACTH and phaeochromocytoma was made after the case was initially investigated for an adrenal incidentaloma. Multiple challenges had to be overcome prior to surgery for the functioning adrenal adenoma including management of refractory hypokalaemia, poor nutritional status, persistent hyperglycaemia, labile blood pressure and florid hypercortisolaemia driving the metabolic derangements. She underwent an uneventful left-sided adrenalectomy and required no medication thereafter with normal blood pressure, blood glucose and serum potassium and resolution of constipation and abdominal symptoms. In conclusion, patients with EAS related to phaeochromocytoma are rare and present with distinctive diagnostic and management challenges but if diagnosed successfully and managed intensively, they are curable.
  2. Wan Muhammad Hatta SF, Kandaswamy L, Gherman-Ciolac C, Mann J, Buch HN
    PMID: 30087779 DOI: 10.1530/EDM-18-0074
    Myopathy is a well-known complication of hypercortisolism and commonly involves proximal lower-limb girdle. We report a rare case of Cushing's syndrome in a 60-year-old female presenting with significant respiratory muscle weakness and respiratory failure. She had history of rheumatoid arthritis, primary biliary cirrhosis and primary hypothyroidism and presented with weight gain and increasing shortness of breath. Investigations confirmed a restrictive defect with impaired gas transfer but with no significant parenchymatous pulmonary disease. Respiratory muscle test confirmed weakness of respiratory muscles and diaphragm. Biochemical and radiological investigations confirmed hypercortisolaemia secondary to a left adrenal tumour. Following adrenalectomy her respiratory symptoms improved along with an objective improvement in the respiratory muscle strength, diaphragmatic movement and pulmonary function test.

    Learning points: Cushing's syndrome can present in many ways, a high index of suspicion is required for its diagnosis, as often patients present with only few of the pathognomonic symptoms and signs of the syndrome.Proximal lower-limb girdle myopathy is common in Cushing's syndrome. Less often long-term exposure of excess glucocorticoid production can also affect other muscles including respiratory muscle and the diaphragm leading to progressive shortness of breath and even acute respiratory failure.Treatment of Cushing's myopathy involves treating the underlying cause that is hypercortisolism. Various medications have been suggested to hinder the development of GC-induced myopathy, but their effects are poorly analysed.

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