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Practical Neurology

James A Bashford, Fahmida A Chowdhury, Chris E Shaw
The clinical diagnosis of Brown-Vialetto-Van Laere syndrome in this woman with rapidly progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) therapy. This resulted in a dramatic improvement in her motor function from being anarthric, dysphagic, tetraparetic and in ventilatory failure to living independently with mild dysarthria and distal limb weakness. DNA sequencing of the SLC52A3 gene found compound heterozygous C-terminus mutations, V413A1/D461Y, consistent with recent reports of mutations within the riboflavin transporter genes (SLC52A2 and SLC52A3) in this condition...
October 24, 2016: Practical Neurology
David J T McArdle, Sumit J Karia
No abstract text is available yet for this article.
October 3, 2016: Practical Neurology
Phil Smith
Telephone consultations are well suited to epilepsy review, particularly for those ineligible to drive. Careful patient selection and a courtesy call beforehand, by an administrator, increases efficiency and saves patient anxiety and clinician time. This paper gives advice based upon the author's experience of telephone review of patients with epilepsy.
September 27, 2016: Practical Neurology
Phil Smith
No abstract text is available yet for this article.
September 27, 2016: Practical Neurology
Sherri A Braksick, Jennifer M Martinez-Thompson, Eelco F M Wijdicks
Neurological complications of haemolytic uraemic syndrome (HUS) include altered states of consciousness, seizures, ischaemic stroke and encephalopathy. Adult-onset HUS is uncommon, and there is only a limited literature reporting neurological complications in this population. We report an adult with Shiga toxin-associated HUS complicated by focal-onset non-convulsive status epilepticus, who made a full neurological recovery.
September 26, 2016: Practical Neurology
Pearl K Jones, Brett H Shaw, Satish R Raj
Postural tachycardia syndrome (POTS) is a multifactorial clinical syndrome defined by an increase in heart rate of ≥30 bpm on standing from supine position (or ≥40 bpm in children). It is associated with symptoms of cerebral hypoperfusion that are worse when upright and improve when in supine position. Patients often have additional symptoms including severe fatigue and difficulty concentrating. There are several possible pathophysiologic mechanisms including hypovolaemia, small-fibre peripheral neuropathy and hyperadrenergic states...
September 22, 2016: Practical Neurology
R T Ibitoye, S A Renowden, H J Faulkner, N J Scolding, C M Rice
Ovarioleukodystrophy-the co-occurrence of leukodystrophy and premature ovarian failure-is a rare presentation now recognised to be part of the clinical spectrum of vanishing white matter disease. We describe a woman with epilepsy and neuroimaging changes consistent with leukoencephalopathy who presented with non-convulsive status epilepticus after starting hormone replacement therapy in the context of premature ovarian failure. Genetic testing confirmed her to be a compound heterozygote for EIF2B5 mutations; the gene encodes a subunit of eukaryotic translation initiation factor 2B...
September 20, 2016: Practical Neurology
Marina Milic, Jeremy H Rees
Radiotherapy is the mainstay of treatment after surgery for high-grade gliomas and is usually well tolerated. Radiation toxicity in the brain is usually classified according to the timing of side effects in relation to treatment, as either acute (during radiotherapy), early delayed (within 12 weeks of radiotherapy) or late delayed (months to years after radiotherapy). We report two cases of young women who developed severe acute demyelination within 4 months of radiotherapy for glioma, one of whom had a previous history of transverse myelitis...
September 9, 2016: Practical Neurology
Geraint Fuller
No abstract text is available yet for this article.
August 26, 2016: Practical Neurology
James Milburn, David Shatti, Hadi Manji, Alex Everitt
We present a diagnostically challenging case of a 61-year-old man presenting with progressive weakness and intermittent low-grade fever.
August 18, 2016: Practical Neurology
Mihaela Boca, Katie Lloyd, Marcus Likeman, Philip Jardine, Alan Whone
A previously well 16-year-old boy developed a rapid-onset hypokinetic syndrome, coupled with a radiological appearance of extensive and highly symmetrical basal ganglia and white matter change. The diagnostic process was challenging and we systematically considered potential causes. After excluding common causes of this clinico-radiological picture, we considered common disorders with this unusual radiological picture and vice versa, before finally concluding that this was a rare presentation of a rare disease...
August 8, 2016: Practical Neurology
Ali Alim-Marvasti, Jason Ho, Mark Weatherall, Maneesh Patel, Sheena George, Stuart Viegas
A 40-year-old woman presented with a side-locked headache with autonomic features, which then switched sides before reverting to the original side. The atypical features of side swapping, partial response to indometacin and abnormal optic disc appearances ultimately led to a diagnosis of recurrent posterior scleritis. We discuss the differential diagnosis of trigeminal autonomic cephalgias and its secondary causes, and provide practical pointers for its investigation and management.
August 5, 2016: Practical Neurology
David J Burn, Joanne Lawrence
No abstract text is available yet for this article.
October 2016: Practical Neurology
Andrew Lees
No abstract text is available yet for this article.
October 2016: Practical Neurology
Timothy J Counihan
No abstract text is available yet for this article.
October 2016: Practical Neurology
Phil Smith, Geraint N Fuller
No abstract text is available yet for this article.
October 2016: Practical Neurology
Katharine Harding
No abstract text is available yet for this article.
October 2016: Practical Neurology
Walid Moudrous, Jasper van der Ree, Fiek van Tilborg, Leo H Visser
No abstract text is available yet for this article.
October 2016: Practical Neurology
Devin D Mackay, Beau B Bruce
Declining proficiency in direct ophthalmoscopy by non-ophthalmologists has spurred a search for alternative methods of ocular fundus examination. Recent technological advances have improved the ease of use and quality of non-mydriatic fundus photography, increasing its suitability for clinical care. As the availability of this technology continues to improve, neurologists will need to be familiar with its advantages, limitations and potential applications in the clinical care of patients with neurological conditions...
October 2016: Practical Neurology
Alexander D Nesbitt, Guy D Leschziner
Recurrent hypersomnia, or Kleine-Levin syndrome, is rare and frequently causes substantial diagnostic anxiety and delay. Patients often undergo multiple investigations to rule out other causes of encephalopathy. The treatment options are unsatisfactory. Migraine with brainstem aura has not previously been widely considered in the medical literature as a differential diagnosis. We describe two patients referred to a tertiary sleep neurology service with a putative diagnosis of Kleine-Levin syndrome. Each described attacks of hypersomnia with elements of migraine with brainstem aura, in addition to having a history of migraine with aura...
October 2016: Practical Neurology
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