Handbook of clinical neurology
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To most doctors, brachial and lumbosacral plexopathies are known as difficult disorders, because of their complicated anatomy and relatively rare occurrence. Both the brachial, lumbar, and sacral plexuses are extensive PNS structures stretching from the neck to axillary region and running in the paraspinal lumbar and pelvic region, containing 100000-200000 axons with 12-15 major terminal branches supplying almost 50 muscles in each limb. The most difficult part in diagnosing a plexopathy is probably that it requires an adequate amount of clinical suspicion combined with a thorough anatomical knowledge of the PNS and a meticulous clinical examination. ⋯ The most common cause of brachial plexopathy is probably neuralgic amyotrophy and the most common cause of lumbosacral plexopathy is diabetic amyotrophy. Traumatic and malignant lesions are fortunately rarer but just as devastating. This chapter provides an overview of both common and rarer brachial and lumbosacral plexus disorders, focusing on clinical examination, the use of additional investigative techniques, prognosis, and treatment.
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The advent of magnetic resonance imaging (MRI) has contributed to increase the interest and awareness in childhood white matter disorders. Pediatric inflammatory demyelinating diseases of the central nervous system (CNS) are clinically heterogeneous with respect to their mode of presentation, clinical severity, rate of progression, and prognosis. Acute disseminated encephalomyelitis (ADEM) is an immune-mediated inflammatory disorder of the CNS, typically transitory and self-limiting. ⋯ The occurrence of relapses in children with ADEM poses diagnostic difficulties in its differentiation from multiple sclerosis (MS) and neuromyelitis optica (NMO). With the widespread use of high-dose steroids, the long-term prognosis of ADEM with regard to functional and cognitive recovery is favorable. This chapter summarizes the available literature on ADEM in children, including the proposed consensus definitions for its monophasic and relapsing variants.
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Acanthamoeba spp., Balamuthia mandrillaris, and Naegleria fowleri are mitochondria-bearing, free-living eukaryotic amebae that have been known to cause infections of the central nervous system (CNS) of humans and other animals. Several species of Acanthamoeba belonging to several different genotypes cause an insidious and chronic disease, granulomatous amebic encephalitis (GAE), principally in immunocompromised hosts including persons infected with HIV/AIDS. Acanthamoeba spp., belonging to mostly group 2, also cause infection of the human cornea, Acanthamoeba keratitis. ⋯ Naegleria fowleri, on the other hand, causes an acute and fulminating, necrotizing infection of the CNS called primary amebic meningoencephalitis (PAM) in children and young adults with a history of recent exposure to warm fresh water. Additionally, another free-living ameba Sappinia pedata, previously described as S. diploidea, also has caused a single case of amebic meningoencephalitis. In this review the biology of these amebae, clinical manifestations, molecular and immunological diagnosis, and epidemiological features associated with GAE and PAM are discussed.
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Joubert syndrome (JS) is a rare autosomal recessive condition characterized by a peculiar midbrain-hindbrain malformation, known as the molar tooth sign (MTS). The neurological presentation of JS includes hypotonia that evolves into ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys, and liver, defining a group of conditions termed Joubert syndrome and related disorders (JSRDs), that share the MTS. ⋯ Indeed, JSRD present clinical and genetic overlap with a growing field of disorders due to mutations in ciliary proteins, that are collectively known as "ciliopathies." These include isolated nephronophthisis, Senior-Løken syndrome, Bardet-Biedl syndrome and, in particular, Meckel syndrome, which is allelic at JSRD at seven distinct loci. Significant genotype-phenotype correlates are emerging between specific clinical presentations and mutations in JSRD genes, with relevant implications in terms of molecular diagnosis, clinical follow-up, and management of mutated patients. Moreover, the identification of mutations allows early prenatal diagnosis in couples at risk, while fetal neuroimaging may remain uninformative until the late second trimester of pregnancy.
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The few reported controlled studies show that bilateral stimulation of the globus pallidus interna (GPi) is a safe and effective long-term treatment for hyperkinetic disorders. However, the recently published data on deep brain stimulation (DBS) applied to different targets or patients (especially those with secondary dystonia) are mainly uncontrolled case reports, precluding a clear determination of its efficacy, and providing little guidance as to the choice of a "good" target in a "good" patient. This chapter reviews the literature on DBS in primary dystonia, paying particular attention to the risk:benefit ratio in focal and segmental dystonias (cervical dystonia, cranial dystonia) and to the predictive factors for a good outcome. ⋯ This chapter provides a comprehensive analysis of the use of the treatment in various types of secondary dystonia, with little to moderate benefit in most cases, based on single cases or small series. Beyond the reduction in the severity of dystonia, the global motor and functional outcome is difficult to determine owing to the paucity of adequate evaluation tools. Because of the large interpatient variability, different targets may be effective depending on the symptoms in each individual.