BMJ case reports
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Platypnoea-orthodeoxia syndrome (POS) is a rare disorder characterised by both dyspnoea (platypnoea) and arterial desaturation (orthodeoxia) in the upright position, with improvement in the supine position. We report an unusual case in which an 82-year-old woman developed severe hypoxaemia with POS after left total knee replacement. ⋯ A patent foramen ovale with a right-to-left shunt was evident on transoesophageal echocardiogram employing colour Doppler and agitated normal saline studies. Interestingly, the patient's symptoms resolved within 6 months with ongoing chest physiotherapy, without surgical or medical intervention.
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Case Reports
Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine.
Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. ⋯ His attacks were characterised by motor weakness associated with altered mental status, diplopia and ataxia. He also showed up MRI abnormalities and incomplete response to prophylactic therapy with verapamil. Late-onset HM should be considered among the possible causes of focal neurological deficits even in older patients with cerebrovascular risk factors when a stroke appears to be more likely.