By John H. Menkes, Harvey B. Sarnat
Revised to include the most recent advances within the neurosciences and medical neurology, the 6th version of Dr. Menkes' vintage textual content presents a radical realizing of all illnesses affecting the constructing anxious procedure. In clinically appropriate phrases, the e-book explains how fresh advancements in molecular biology, genetics, neurochemistry, neurophysiology, and neuropathology impression at the analysis, remedy, and care of sufferers. every one bankruptcy specializes in a particular disease or crew of issues and emphasizes differential prognosis, sickness path, therapy, and prognosis.This variation is coedited via Harvey B. Sarnat, MD, a number one specialist in neuroembryology, muscle ailments, and neonatal neurology. The checklist of individuals has been enlarged and comprises specialists in infectious ailments, cytogenetics, neuroimaging, neuroimmunology, and neuro-oncology.
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Adenovirus-mediated gene transfer holds some promise in delivering a-glucosidase to muscle ( 418). The problems inherent in gene delivery to the brain are discussed by Kennedy ( 419). Allogeneic bone marrow transplantation offers more promise for the treatment of lysosomal storage diseases. In glycogenosis II, however, no beneficial result has been reported, despite successful engraftment. Liver transplantation has been used with some effect in type IV glycogen storage disease (brancher deficiency) ( 420).
Some have been of normal intelligence, or only mildly retarded, whereas others have presented with severe retardation and macrocephaly ( 468). Hepatomegaly is generally present, and the facial and skeletal abnormalities are characteristic for a mucopolysaccharidosis. 12) is readily detected in serum, leukocytes, and fibroblasts ( 469). Mucolipidoses Mucolipidoses have the clinical features of both the mucopolysaccharidoses and the lipidoses. At least four mucolipidoses have been distinguished, characterized by MPS storage despite normal excretion of MPS.
Corneal opacities are almost invariable, as is strabismus and an ERG with markedly reduced amplitude. Photophobia was noted in 25% of the children in the Israeli series of Amir and coworkers ( 475). A striking hypotonia and extrapyramidal signs also have been encountered, and some patients have been evaluated for a congenital myopathy. Seizures are not part of the clinical picture. Skeletal deformities and visceromegaly are absent (475). Curiously, patients with ML IV are constitutionally achlorhydric ( 476).