La Revue de médecine interne
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McArdle disease, or glycogen storage disease type V (GSD 5), is a rare metabolic myopathy linked to an autosomal recessive myophosphorylase deficiency. ⋯ GSD 5 is a disease characterized essentially by muscular fatigability during exercise. The case reported here is original in the clinical circumstances leading to the diagnosis, i.e., inaugural acute low back pain with rhabdomyolysis. This symptomatology had already been described before, but in a patient whose diagnosis was already known. Spinal MRI showed non-specific muscle inflammation and necrosis. Muscle biopsy only found necrosis but no pathological elements typical of the diagnosis. If the symptoms are suggestive, it may be preferable to directly perform a non-ischaemic forearm exercise test, in order to go directly to molecular genetic analysis. There is no specific curative treatment of GSD 5. However, some measures can be implemented to limit the symptoms, such as learning physical exercises, limiting intense efforts and adopting dietary recommendations.
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Splenic infarction is a rare event in clinical practice, diagnosed by CT scan. There are many causes. They often determine the treatment given. However, there is no consensus on etiological investigations. ⋯ Analysis of these various studies has enabled us to draw up a list that is intended to be as exhaustive as possible of the causes of splenic infarction. The most frequent are emboligenic heart disease, hematological malignancies, solid neoplasia and certain infections. The descriptions available in the literature were mainly based on isolated clinical cases, not always making it possible to establish a causal link with the disease described, especially as around 20% of reported cases of splenic infarction were asymptomatic and potentially of incidental discovery. Based on the findings of this literature review, we propose a protocol for the etiological assessment of splenic infarcts.