Handbook of clinical neurology
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In neuromuscular disorders beginning in childhood, the involvement of respiratory muscles is common. Deterioration of respiratory function occurs insidiously, contributes to significant morbidity, and is often responsible for mortality. ⋯ The key to care of respiratory problems in neuromuscular disorders is a preventive approach. Careful monitoring of symptoms, regular assessment of pulmonary function, appropriate presurgical management, and aggressive treatment of respiratory infections must be considered a standard of care.
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Genetic deficiencies of lysosomal catabolic pathways lead to storage disorders with multiple organ abnormalities or to degeneration of purely nervous structures. Krabbe disease and metachromatic leukodystrophy are caused by metabolic errors concerning lipids of neural membranes. They are characterized by demyelination of the central nervous system and, variably, the peripheral nerves. ⋯ In a rare variant, multiple sulfatases are deficient. Stem cell transplantation may prevent disease progression in selected cases. Enzyme replacement is being evaluated, and gene therapies are being developed.
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Obstetrical brachial plexus palsy is considered to be the result of a trauma during the delivery, even if there remains some controversy surrounding the causes. Although most babies recover spontaneously in the first 3 months of life, a small number remains with poor recovery which requires surgical brachial plexus exploration. Surgical indications depend on the type of lesion (producing total or partial palsy) and particularly the nonrecovery of biceps function by the age of 3 months. ⋯ Clinical manifestations at birth are directly correlated with the anatomical lesion. Finally, operative procedures are considered, including strategies of reconstruction with nerve grafting in infants and secondary surgery to increase functional capacity at later ages. However, normal function is usually not recovered, particularly in total brachial plexus palsy.
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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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There are many children with intractable epilepsy who do not respond to anticonvulsant medications yet are not candidates for resective epilepsy surgery. For these children and more, nonpharmacologic therapies can be very helpful. ⋯ Neurostimulation, using electricity to abort seizures, includes vagus nerve stimulation only at this time. However, other treatments such as deep brain stimulation and cortical responsive stimulation (NeuroPace) are under active development.