Rev Neurol France
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Review
Rare neurological diseases: a Pandora's box for neurology (an European and Italian perspective).
Rare neurological diseases are a heterogeneous group of disorders mainly affecting the central and peripheral nervous systems and muscle, representing almost 50% of all rare diseases; this means that neurologists are among the main specialists involved in their diagnosis and research. However, the classical interest of neurologists is primarily directed towards the more common diseases such as dementia, multiple sclerosis, headache, epilepsy and stroke, while avoiding the follow-up of rare neurological diseases that have, taken altogether, had such a major impact on health systems in Europe as well as in other countries around the world. Rare diseases are also considered 'orphan' diseases, as only a few of them have treatments. ⋯ In fact, the difficulty of diagnosis and the need for super-specialization in this field has led to the organization of dedicated centers in different countries to collect patients' data within a network for diagnosis, treatment and research. The present report describes our experience in Siena with such a reference center for these disorders and their diagnosis and treatment, and also includes a discussion of the organization of care for rare neurological diseases in Europe and Italy. Finally, this report also covers the new initiative of the Italian Neurological Society to promote an information center for rare neurological diseases to disseminate information and knowledge to all neurologists working in this field.
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The multidisciplinary care of amyotrophic lateral sclerosis (ALS) patients in clinics with expertise in the disease was created in the 1980s and 1990 s specifically to manage the severe functional impairment caused by the disorder. This specialized care for both diagnosis and management led to the creation of the ALS centers. ⋯ French ALS centers are now 10 years old, and their efficient national coordination has provided an improved and homogeneous care delivery in our country, while their recommendations for care have been published both nationally and internationally. Several studies have indicated positive effects on ALS patients'survival after attending ALS centers and receiving such specialized palliative treatments as assisted ventilation.
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Letter Review Case Reports
Pneumorrhachis associated with a spontaneous pneumomediastinum.
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Guillain-Barré syndrome (GBS) is an acute-onset inflammatory polyradiculoneuropathy usually triggered by an infectious disease. In some cases, GBS can occur without any preceding infectious episode, like after vaccination, epidural anaesthesia or surgery. A 73 years old woman had head and spine trauma. ⋯ Four months after discharge she had fully recovered except left peripheral facial palsy. GBS can rarely be triggered by head trauma or spine surgery. Physician must keep in mind this diagnosis whenever their patients present acute-onset neurological worsening in such context.
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Psychiatric diagnoses are frequent in memory units, but most neurologists do not feel comfortable about making the diagnosis of psychopathologic cognitive complaint or disorder. The full diagnosis usually requires careful history taking and a neuropsychological examination followed by a clear joint explanation to the patient. There are no good validated clinical signs to distinguish organic memory complaints from psychological disorders, but a nonorganic pattern, as seen in somatic conversion disorder, can be suggestive of a "cognitivoform" disorder. ⋯ The neurologist can rule out organic disorders or an exaggeration of somatic symptoms and determine the precise etiology in order to build a rationale for treatment. The neurologist can also avert an overconsumption of complementary explorations. In conclusion, this study shows first that psychopathologic disorders are commonly encountered in a neurological memory unit, emphasizing the need for training for the neurologist and collaboration with a psychiatrist, and secondly that the role of the memory unit cannot be limited to the diagnosis of Alzheimer's disease.