La Revue de médecine interne
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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects different organs and caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. TSC1 or TSC2 gene mutation lead to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular proliferation. ⋯ These disorders are usually diagnosed in children and adults. Specific guidelines for diagnosis, surveillance, and management have been proposed by the International Tuberous Sclerosis Complex Consensus Group. Several randomized controlled trials led to regulatory approval of the use of mTOR inhibitors for the treatment of renal angiomyolipomas, brain subependymal giant cell astrocytomas, refractory epilepsy and pulmonary lymphangioleiomyomatosis.
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Aspergillusfumigatus can cause a systemic infection called invasive aspergillosis causing pulmonary and extra-pulmonary damage. Aspergillus endocarditis (AE) is a relatively rare disease but can be life-threatening. ⋯ Aspergillus endocarditis is rare but is associated with a very high mortality rate. Knowledge of its predictive factors and key clinical features can help to differentiate aspergillosis from non-fungal endocarditis and may enable improved survival rates.
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Pyoderma gangrenosum (PG) is a rare, mainly dermatological condition, whose unusual and little-known lung involvement presents a diagnostic and therapeutic challenge. ⋯ The recognition of cutaneous involvement of PG, which is essential for the diagnosis of its lung involvement, is probably the mirror of its evolution under treatment. Only multidisciplinary confrontation of reported cases will allow the elaboration of diagnostic and therapeutic recommendations.
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Periodic spontaneous hypothermia syndrome (PSHS), also known as hypersudation-hypothermia syndrome, is a rare condition characterised by the occurrence of paroxysmal attacks of spontaneous hypothermia occurring without age limit. Few studies have attempted to synthesise the available data on PSHS. The objective of this study was to summarize the literature on this condition. ⋯ PSHS remains a poorly known cause of hypothermia, without consensual therapeutic options. The need to better describe cases and obtain more long-term data will allow a better definition and knowledge of this syndrome.
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Bariatric surgery is a very effective treatment for obesity. After gastric bypass, micronutrient deficiencies frequently occur which can have dramatic consequences. ⋯ Micronutrient deficiency should systematically be assessed when new symptoms occur in a patient with a history of bariatric surgery. Selenium deficiency should be considered in the presence of any heart failure in this context.