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.
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Case Reports
Vaginal delivery in the 30+4 weeks of pregnancy and organ donation after brain death in early pregnancy.
A 28-year-old woman suffered a traffic accident resulting in severe head injuries with deleterious prognosis. Diagnostics further revealed a hitherto unknown pregnancy, at suspected week 9. Based on the patient's wish to donate organs, brain death protocol confirmed irreversible loss of brain function. ⋯ At 30+4 weeks, a viable girl was born via assisted vaginal delivery. Postpartal organ donation resulted in heart, kidney and pancreas transplantation. The case emphasises the medical, legal and ethical challenges to combine two apparently diametrical goals: the successful full-term pregnancy and the fulfilment of a patient's wish to donate organs.
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Sodium glucose co-transporter-2 inhibitors (SGLT2-i) have become a popular therapeutic strategy in the management of hyperglycaemia in type 2 diabetes mellitus. The primary site of action of SGLT2-i is at the proximal renal convoluted tubule. ⋯ We report the case of a 51-year-old woman admitted to the acute medical unit with abdominal pain and vomiting, who was diagnosed with euglycaemic diabetic ketoacidosis secondary to recent initiation of an SGLT2-i medication (dapagliflozin). Clinicians should be aware of this rare side effect of SGLT2-i, to circumvent delays in patient management.
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Review Case Reports
Catastrophic antiphospholipid syndrome in pregnancy: a life-threatening condition.
Catastrophic antiphospholipid syndrome (CAPS) is a rare and potentially life-threatening variant of the antiphospholipid syndrome which is characterised by multiple small vessel thrombosis which can lead to multiorgan failure. CAPS is a clinical emergency which all clinicians need to be aware of because early diagnosis and treatment may improve maternal and fetal outcome. Here, we report a case of CAPS in pregnancy in a 31-year-old female patient who presented at 28 weeks of gestation. A literature review of CAPS in pregnancy and the puerperium is also included.