Internal medicine
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A 49-year-old woman presented with nephrotic-range proteinuria, microhematuria, and moderate renal dysfunction. Diuretic-resistant refractory ascites associated with nephrotic syndrome were observed. ⋯ Cell-free and concentrated ascites reinfusion therapy (CART) performed to treat the refractory ascites improved the ascites and anasarca. Rituximab successfully treated the PGNMID, while CART effectively treated the refractory ascites associated with nephrotic syndrome.
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Autosomal recessive spinocerebellar ataxia of type 10 (SCAR10) is a very rare neurodegenerative disease caused by mutations in the TMEM16K (ANO10) gene. This disorder is characterized by slowly progressive cerebellar ataxia and pyramidal signs inconstantly associated with cognitive decline, polyneuropathy, epilepsy, and vesicorectal dysfunction. To date, more than 40 cases have been reported in Europe. ⋯ We herein report the third Japanese case of SCAR10 harboring a novel homozygous deletion mutation (c.616delG, p. Glu206Lysfs*17). This case presented with adult-onset slowly progressive spastic ataxia with cerebellar atrophy and mild cognitive decline.