Multiple Sclerosis is a chronic inflammatory demyelinating disease that affects 2.5 million people in the world. NEDA (No evidence of disease Activity) -4 is a new concept related to absence of disease activity in the context of MS. It takes into account the following four parameters: relapses; disability progression; lesion load and brain atrophy. Areas covered: The purpose of this paper is to visit the new emerging concepts of NEDA. Although it is considered important and attractive, there is a lack of uniformity. Expert commentary: Although NEDA-4 embraces important markers of disease activity and degeneration, this definition is still evolving and other parameters apart from the loss of brain volume might be included, especially those related to disability, such as cognitive problems, visual function, fatigue and pain.
Myasthenia gravis (MG) is a relatively uncommon disorder with an annual incidence of approximately 7 to 9 new cases per million. The prevalence is about 70 to 165 per million. The prevalence of the disease has been increasing over the past five decades. This is thought to be due to better recognition of the condition, aging of the population, and the longer life span of affected patients. MG causes weakness, predominantly in bulbar, facial, and extra-ocular muscles, often fluctuating over minutes to weeks, in the absence of wasting, sensory loss, or reflex changes. The picture of fluctuating, asymmetric external ophthalmoplegia with ptosis and weak eye closure is virtually diagnostic of myasthenia. We report an atypical MG case with three semiological cardinal signs.
Leukodystrophies compass a wide range of genetic disorders that compromise the white matter. Some of them exhibit different phenotypes with late and slow onset. The present work reports an unusual case of probable X-Linked Adrenoleukodystrophy that could be classified in adrenomyeloneupathy, but there were no signs of adrenal insufficiency and the cognitive decline developed fast. MRI evinced classical symmetrical parieto-occipital pattern of lesion, although dosage of very long chain fatty acids was normal.
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