Multisystem inflammatory syndrome in children (MIS-C) caused a rare presentation of ataxia and papilledema; A case reportRunning title: a multi-system inflammatory syndrome in children (MIS-C) with ataxia and papilledema

SRD5A3-CDG (MIM 612379) is an extremely rare congenital disease, with only 38 cases having been reported. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities, ataxia, and hypotonia. Here, we discuss a seven-year-old boy with SRD5A3-CDG (homozygous variant c.57G>A [p.Trp19Ter]), featuring the unprecedented finding of telangiectasia.