Neurol. Int., Volume 8, Issue 3 (September 2016) – 6 articles

We report a case of a 46-year-old man presenting with a progressive cognitive decline, ataxic gait, urinary incontinence for 4 months and neuroimaging consistent with normal pressure hydrocephalus. The atypical presentation of a progressively worsening dysphasia and a right hemiparesis dismissed as a vascular event 1 month earlier associated with normal pressure hydrocephalus prompted further investigations confirming neurosyphilis also manifesting as dementia paralytica. Treatment using consensus guidelines led to resumption of activities of daily living. Neurosyphilis, considered rare in the neuroimaging era, must still be considered a reversible cause of dementia and other neurological manifestations in contemporary neurological practice. Full article

The spectrum of clinical and electrophysiological features in hereditary neuropathy with liability to pressure palsies (HNPP) is broad. We analyze a series of Brazilian patients with HNPP. Correlations between clinical manifestations, laboratory features, electrophysiological analyze, histological and molecular findings were done. In five cases, more than one episode occurred before diagnosis. Median nerve in the carpal tunnel at the wrist, ulnar nerve in its groove at the elbow, fibular nerve in the head of the fibula at the knee, radial nerve in its groove of the humerus and suprascapular nerve in its notch at the supraspinous fossa were found as focal neuropathies. One patient presented with persistent writer’s cramp after ulnar nerve palsy. Nerve conduction studies showed focal neuropathy in all patients and concomitant generalized symmetrical neuropathy in eight patients. Molecular analysis of the PMP22 gene detected deletion of the 1.5-Mb fragment in all patients. Full article

We describe a case of Parry Romberg syndrome/ en coupe de sabre in a woman whose disease started as seizures at age 8 but was diagnosed at the age 39. During these 31 years she got married, completed a first degree at university, had two successful pregnancies and has been gainfully employed. The features of generalized tonic-clonic seizures, autoimmune abnormalities, ocular abnormalities, morphea en coup de sabre and brain imaging abnormalities were present. Areas of parietal lobe cerebral calcification were encountered on the computed tomographic scan and bilateral periventricular white matter changes on the magnetic resonance imaging with frontal, temporal and parietal lobe brain atrophy ipsilateral to the facial hemiatrophy. Clinical, immunologic and neuroradiological abnormalities are discussed. In some cases, this illness can run a benign and stable course. Full article

The objective of this study was to assess long-term use, adherence and efficacy of injectable disease modifying agents (DMAs). Multiple Sclerosis (MS) patients diagnosed during 2002-2010 with early treatment start and at least one year in first choice medication were included in a large university district in Finland. Annualized relapse rates (ARR) during each treatment period were studied, and number of switches by medication evaluated. Use of health care facilities during 2002-2010 was assessed. In the study were included 113 MS patients; 15 (13%) switched medication. The mean duration of treatment period (128) was 3.8 years. In 77% (98/128) the treatment continued with the first DMA for (mean) 3.8 years, in 19% (25/128) with the second for 3.5 years and in 4% (5/128) with the third for 4.8 years. Mean ARR was 0.26, with 54% (69/128) of the periods relapse free. Mean ARR during the treatment periods with product switch was 0.41 before, and 0.28 after the switch, showing a trend towards better efficacy with the second DMA. The usage of health care resources remained within the guidelines. Long-term adherence to first choice DMA was observed, and a switch of product within the DMAs showed continuous adherence and efficacy. The efforts to seek a clinically effective and well tolerated agent within the first-line DMAs is warranted, leading to continued adherence and increased clinical effectiveness. Full article

An ongoing debate on decision and cost-utility analyses is whether to use preferences of general public or patients. The aim of this study was to replicate the valuation procedure of the multi-attribute utility generic measure, 15D, using a sample of multiple sclerosis (MS) patients and to assess its psychometric properties. Consecutive outpatient MS patients were recruited from two MS centers in Greece. The three-stage valuation procedure was applied and, with the use of elicited preference weights, an MS patients’ algorithm was developed. The original Finnish value set derived from healthy individuals was also used to calculate scores and a comparison between the two algorithms was made. A total of 64 MS patients were evaluated. The 15D scores obtained with the MS patients’ valuation algorithm were higher than the original one. The derived utilities differed significantly with respect to age, depressive symptoms, Expanded Disability Status Scale score and clinical form. MS patients indicated as most important domains mobility, mental functioning and vitality. Cronbach’s alpha was estimated 0.876 and correlations between relevant dimensions of the instruments were moderate to high. The 15D was generally feasible and reliable in patients with MS and the valuation system yielded acceptable psychometric properties. Full article

We report a case of a 22-year-old female student nurse who presented to hospital with an acute neuro-ophthalmological syndrome characterized by papilledema, ataxia, ophthalmoplegia and headache after a single first time use of 150 mg medroxyprogesterone intramuscular injection. Clinical, laboratory, radiological and ophthalmological investigations were in keeping with the diagnosis of idiopathic intracranial hypertension but lumbar puncture did not show a raised cerebrospinal fluid pressure suggesting a forme fruste of this entity. Her neuro-ophthalmological clinical features responded well to acetazolamide and diagnostic/ therapeutic lumbar puncture. Full recovery was achieved three months after medroxyprogesterone usage. Health care providers must be aware of this adverse drug reaction. Full article