J Coll Physicians Surg Pak
June 2022
Berardinelli-Seip Congenital Lipodystrophy (BSCL), also known as congenital generalised lipodystrophy, is a genetic disorder where there is an absolute deficiency of adipose tissue. It affects the development of adipocytes and ultimately leads to an inability to store fat in adipocytes. It is extremely rare.
View Article and Find Full Text PDFJ R Coll Physicians Edinb
June 2021
In some patients undiagnosed diabetes may present with metabolic complications of diabetes as their initial presentation. Suboptimal glycaemic control in diagnosed and undiagnosed diabetes can cause hypertriglyceridaemia which can cause pancreatitis. In patients presenting with pancreatitis where common causes of pancreatitis are excluded hypertriglyceridaemia should be considered as a cause and hence their lipid profile should be evaluated.
View Article and Find Full Text PDFThyrotoxic periodic paralysis is an uncommon disorder characterized by hypokalaemia, thyrotoxicosis and paralysis, most commonly seen in South Asian males. Aim of our case series is to highlight the significance of this reversible cause of patients presenting with neuromuscular paralysis. We present case series of 1 Asian and three Caucasian patients with thyrotoxic periodic paralysis who came with neuromuscular weakness secondary to thyrotoxicosis.
View Article and Find Full Text PDFMyxedema may be the first presentation of patients with undiagnosed hypothyroidism. Definitive management is with thyroid hormone but supportive measures, identification and treatment of precipitating factors in an appropriately safe environment are vital. There is no consensus about preferred thyroid hormone regimen.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
November 2015
Background: Cushing's syndrome (CS) is a severe condition with excess mortality and significant morbidity necessitating control of hypercortisolemia. There are few data documenting use of the steroidogenesis inhibitor metyrapone for this purpose.
Objective: The objective was to assess the effectiveness of metyrapone in controlling cortisol excess in a contemporary series of patients with CS.
J Coll Physicians Surg Pak
May 2014
Periodic paralysis is a muscle disorder that belongs to the family of diseases called channelopathies, manifested by episodes of painless muscle weakness. Periodic paralysis is classified as hypokalemic when episodes occur in association with low potassium levels. Most cases are hereditary.
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