BMJ case reports
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Case Reports
An ECG changed the life of a young boy: a case of arrhythmogenic right ventricular dysplasia.
Arrhythmogenic right ventricular dysplasia (ARVD) is a progressive condition with the right ventricular myocardium being replaced by fibrofatty tissue. It is a hereditary disorder mostly caused by desmosome gene mutations. ⋯ Clinical presentation is usually related to ventricular tachycardias, syncope, presyncope or ventricular fibrillation leading to cardiac arrest, mostly in young people and athletes. We report a case of a 17-year-old boy from Turkey, who was referred to our cardiology department for an ECG, required of him prior to joining a football team.
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Case Reports
Management of an unusual case of iatrogenic parotid sialocele using an infant feeding tube: a novel approach.
Injuries to the parotid duct and parenchyma resulting in swelling in the cheek region commonly present in maxillofacial practice. Sialocele is a discrete collection of saliva in a subcutaneous cavity that can be iatrogenic, idiopathic or the result of post-traumatic injuries to the duct or parenchyma, presenting as a salivary pseudocyst or retention cyst. We present an unusual case of parotid sialocele following surgery for sialolithiasis which presented with progressive painless swelling in the preauricular region of 9 months duration. Treatment included surgical exploration under local anaesthesia and draining the cavity by keeping the opening patent using an infant feeding tube.
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A 90-year-old man was transferred to a geriatric evaluation and management (GEM) unit for management of hypoactive delirium following a pneumonia and acute myocardial infarction complicated by septic shock. He was found to have central hypothyroidism and hypoadrenalism leading to the diagnosis of hypopituitarism. Cerebral imaging confirmed this was secondary to a pituitary haemorrhage. ⋯ Hypoactive forms of delirium in particular can be difficult to detect and therefore remain undiagnosed. While this patient's delirium was likely multifactorial, his hypopituitary state explained much of his hypoactivity. His drowsiness, bradycardia, hypotension and electrolyte imbalance provided clinical clues to the diagnosis.
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Case Reports
Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder associated with recurrent mononeuropathies following compression or trivial trauma. Reports on sciatic neuropathy as the presenting manifestation of HNPP are very scarce. We report on a 21-year-old previously healthy man who was admitted with sensorimotor deficits in his left leg. ⋯ Clinical and electrophysiological examinations were consistent with sciatic neuropathy. Cerebrospinal fluid investigation and MRI of the nerve roots, plexus, and sciatic nerve did not indicate the underlying aetiology. When extended electrophysiological tests revealed multiple subclinical compression neuropathies in the upper limbs, HNPP was contemplated and eventually confirmed by genetic testing.
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Case Reports
Inflammatory myopathy and interstitial lung disease in antisynthetase syndrome with PL-7 antibody.
We report a case of a 72-year-old Caucasian woman with PL-7 positive antisynthetase syndrome. Clinical presentation included interstitial lung disease, myositis, 'mechanic's hands' and dysphagia. As lung injury was the main concern, treatment consisted of prednisolone and cyclophosphamide. Complete remission with reversal of pulmonary damage was achieved, as reported by CT scan, pulmonary function tests and functional status.