Results 161 to 170 of about 11,658 (188)
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Congenital metachromatic leukodystrophy
Acta Neuropathologica, 1966The pathologic findings of a case of congenital metachromatic leukoencephalopathy are described in a newborn infant who died 20 hours after birth. Metachromatic material was found particularly in cerebral white matter. No metachromatic material was demonstrated, however, in central nervous system neurones or in cells of kidneys, lymph nodes and liver ...
J. J. Bubis, L. Adlesberg
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Biliary disease in metachromatic leukodystrophy
Pediatric Radiology, 1983This paper illustrates the previously unreported sonographic changes in the biliary tract in metachromatic leukodystrophy (MLD). Gallbladder wall thickening due to sulfatide deposition, intraluminal globules of sulfatide or papillomatosis may cause symptoms referrable to the biliary tract in these patients.
Ernest Cutz +5 more
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Psychopathology in Metachromatic Leukodystrophy
Archives of Neurology, 1993To the Editor. —Hyde and colleagues 1 speculate that psychosis in metachromatic leukodystrophy "can result from and perhaps depends on dysfunctional connectivity between certain extrafrontal and subcortical structures with the frontal lobe." They appear to be unaware of several previously published articles on psychopathology in metachromatic ...
Angela M. Hegarty, Arnold E. Merriam
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Papillomatosis of the Gallbladder in Metachromatic Leukodystrophy [PDF]
American Journal of Clinical Pathology, 1969 A 7-year-old boy with typical metachromatic leukodystrophy was found to have a marked diffuse hyperplasia of the mucosa of the gallbladder. The stroma of the villi revealed a large number of macrophages with metachromatic material which also contained cholesterol.
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Gallbladder Polyps in Metachromatic Leukodystrophy
Fetal and Pediatric Pathology, 2018Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease, caused by a deficiency of arylsulfatase A, and leads to demyelination of the nervous system. A putative association between MLD and gallbladder pathology including malignancy is documented in the medical literature.A 10-year-old boy with MLD was found to have a ...
Alia Albawardi +2 more
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Human Molecular Genetics, 2020
Enzyme replacement therapies, allogeneic bone marrow transplantation and gene therapies are treatment options for lysosomal storage diseases caused by inherited deficiencies of soluble lysosomal enzymes.
D. Kaminski +5 more
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Enzyme replacement therapies, allogeneic bone marrow transplantation and gene therapies are treatment options for lysosomal storage diseases caused by inherited deficiencies of soluble lysosomal enzymes.
D. Kaminski +5 more
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Sulfatides in Prenatal Metachromatic Leukodystrophy
Journal of Neurochemistry, 1983Abstract: In one 21‐week‐old fetus with prenatally diagnosed metachromatic leukodystrophy, galactolipid contents were determined in the forebrain cortex, cerebellum, brainstem, spinal cord, and kidney and compared to an appropriate control. Spinal cord and kidney showed the highest sulfatide accumulation as a consequence of deficient cerebroside ...
K. Harzer, W. Baier
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Metachromatic leukodystrophy. Case presentation
Revista Colombiana de Psiquiatría (English ed.), 2017Metachromatic leukodystrophy (MLD) is a rare demyelinating disease (prevalence 1:40 000), also called arylsulfatase A deficiency (ARS-A), which may present with neurological and psychiatric symptoms. Clinical assessment may be difficult, due to unspecific signs and symptoms.
José Fernando Hernández +2 more
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The Journal of Applied Laboratory Medicine, 2020
BACKGROUND Cerebrospinal fluid (CSF) has emerged as a sensitive matrix for the screening of biomarkers for diagnosis and clinical follow-up of diseases with neurological manifestations, including some lysosomal storage disorders.
F. Morena +10 more
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BACKGROUND Cerebrospinal fluid (CSF) has emerged as a sensitive matrix for the screening of biomarkers for diagnosis and clinical follow-up of diseases with neurological manifestations, including some lysosomal storage disorders.
F. Morena +10 more
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Recurrent seizures in metachromatic leukodystrophy
Pediatric Neurology, 1997The unusual presentation of juvenile onset metachromatic leukodystrophy (MLD) and frequent complex partial seizures in a patient led us to perform a retrospective study of 18 patients with MLD to identify the prevalence and type of recurrent seizures during the first 2 years of the disease.
Susan Blaser +3 more
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