Ravi K. Knight

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The aim of this study was to evaluate the spectrum of muscle involvement on Magnetic Resonance Imaging (MRI) in patients with collagen VI related disorders. Nineteen patients with genetically confirmed collagen VI related disorders, 10 with Bethlem myopathy and 9 with Ullrich congenital muscular dystrophy (CMD), had muscle MRI of their legs using T1(More)
Many clinical features of autosomal centronuclear myopathies (CNM) and X-linked myotubular myopathy (XLMTM) are common to congenital myasthenic syndromes (CMS). We describe three children whose clinical and electrophysiological findings originally suggested CMS, in whom CNM was diagnosed pathologically, though not yet genetically characterised. A fourth(More)
A left parietal infarct in a prelingually deaf person resulted in an aphasia for both American Sign Language (ASL) and written and finger-spelled English. Originally the patient had a nearly global aphasia affecting all language systems. By five to seven weeks post-onset her symptoms resembled those of hearing aphasics with posterior lesions: fluent but(More)
We report the case of a 3.5-year-old boy who presented with truncal ataxia, microcephaly and delayed global development in infancy. Hypoplasia of cerebellum and corpus callosum and delayed myelination were found on brain MRI. Failure to thrive, sparse hairs and dystrophic nails became evident at the age of 2 years. He subsequently developed bleeding(More)
Creation of pneumoperitoneum as the first step in closed laparoscopy and the insertion of a primary trocar are the only "blind" steps in laparoscopy. These steps have occasionally been associated with technical difficulties and complications and with prolonged operative time. These problems are compounded in obese patients. In this report, we describe a(More)
A 71-year-old woman presented with severe back pain, limb weakness and cranial nerve dysfunction associated with high cerebrospinal fluid (CSF) protein; we diagnosed Guillain-Barré syndrome and her symptoms completely resolved after intravenous immunoglobulin. Over the next 4 years, she had three further episodes of excruciating back pain accompanied by(More)
To assess the relation of hyperaldosteronism and potassium depletion to the intensity of diuretic therapy we have measured plasma aldosterone by radioimmunoassay and total exchangeable potassium by radioisotope dilution in 24 patients when they were stable at the end of their preparation for cardiac operation. Some patients required intensive frusemide(More)
PURPOSE To describe clinical and electrographic characteristics of seizures LGI1-antibody encephalitis, and their correlations with two-year outcomes. METHODS Video-electroencephalography recordings were performed on a cohort of 16 consecutive patients with LGI1-antibodies from two UK neuroscience-centers over five-years. RESULTS From 14 of 16 patients(More)
Severe diaphragmatic weakness in infancy is rare. Common causes include structural myopathies, neuromuscular transmission defects, or anterior horn cell dysfunction (spinal muscular atrophy with respiratory distress, SMARD1). We describe a form of infantile diaphragmatic weakness without mutations in the SMARD1 gene, in which pathological and clinical(More)