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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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.
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Magnetic resonance imaging (MRI) has become the standard of care for the evaluation of different neurological disorders of the brain and spinal cord due to its multiplanar capabilities and excellent soft tissue resolution. With the large and increasing population of patients with implanted deep brain stimulation (DBS) devices, a significant proportion of these patients with chronic neurological diseases require evaluation of their primary neurological disease processes by MRI. ⋯ These include the potential for induction of electrical currents or heating in DBS devices, which can result in neurological tissue injury, magnetic field-induced device migration, or disruption of the operational aspects of the devices. In this chapter, we review the basic physics of potential interactions of the MRI environment with implanted DBS devices, summarize results from phantom studies and clinical series, and discuss present recommendations for safe MRI in patients with implanted DBS devices.
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Peripheral neuropathies are the most common neurological manifestations occurring in HIV-infected individuals. Distal symmetrical sensory neuropathy is the most common form encountered today and is one of the few that are specific to HIV infection or its treatment. The wide variety of other neuropathies is akin to the neuropathies seen in the general population and should be managed accordingly. ⋯ One is left with cannabis, which cannot be recommended as routine therapy, recombinant human nerve growth factor, which is unavailable, and topical capsaicin with its side-effects. Much has been done to and learned from HIV infection in humans; HIV-infected individuals, treated with ART, are now dying mostly from cardiovascular disease and non-AIDS-related cancers. It hence behooves us to find new approaches to mitigate the residual neurological morbidity that still impacts the quality of life of that population.