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Neuroanatomical and Electroencephalographic Correlations in Sanfilippo Syndrome, Type A

Neuroanatomical and Electroencephalographic Correlations in Sanfilippo Syndrome, Type A Abstract • Waking and all-night-sleeping electroencephalographic recordings were obtained on a boy with Sanfilippo disease, type A. The most striking abnormalities were noted during sleep and included (1) lack of progression through normal sleep stages, (2) absence of vertex waves and normal sleep spindles, (3) inability to stage sleep by the usual criteria, and (4) an unusual alteration of low-amplitude (12 to 15 Hz) activity with generalized delta frequencies. Subsequently, neuropathological examination was performed. The electrophysiological phenomena may be correlated with severe cortical involvement. References 1. Sanfilippo SJ, Podosin R, Langer L, et al: Mental retradation associated with acid mucopolysacchariduria (heparitin sulphate type), abstracted . J Pediatr 63:837-838, 1963.Crossref 2. Kresse H, Wiesmann U, Cantz M, et al: Biochemical heterogeneity of the Sanfilippo syndrome: Preliminary characterization of two deficient factors . Biochem Biophys Res Commun 42:892-898, 1971.Crossref 3. Kresse H, Neufeld EF: The Sanfilippo A corrective factor . J Biol Chem 247:2164-2170, 1972. 4. Wilder BJ: Activation of epileptic foci in psychomotor epilepsy . Epilepsia 10:418, 1969. 5. Ghatak NR, Fleming F, Hinman A: Neuropathology of Sanfilippo syndrome . Ann Neurol 2:161-166, 1977.Crossref 6. Wallace BJ, Kaplan D, Adachi M, et al: Mucopolysaccharidosis type III . Arch Pathol 82:462-473, 1966. 7. Jensen OA: Mucopolysaccharidosis type III (Sanfilippo's syndrome) . Acta Pathol Microbiol Scand 79(A):257-273, 1971. 8. Escourolle R, Berger B, Poirier J: Biopsie cerebrale d'un cas de mucopolysaccharidose H.S. (oligophrenie polydystrophique ou maladie de Sanfilippo): Etude histochimique et ultrastructurale . Presse Med 74:2869-2874, 1966. 9. Teller W, Bechtelsheimer H, Totovic V: Die Heparitinsulfat-mucopolysaccharidose (Sanfilippo): Klinische, biochemische, genetische, und morphologische untersuchungen . Klin Wochenschr 45:497-504, 1967.Crossref 10. Haust MD, Gordon BA, Bryans A, et al: Heparin sulfate mucopolysaccharidosis (Sanfilippo disease): A case study with ultrastructural, biochemical and radiological findings . Pediatr Res 5:137-150, 1971.Crossref 11. Loeb H, Jonniaux G, Resibois A, et al: Biochemical and ultrastructural studies in Hurler's syndrome . J Pediatr 73:860-874, 1968.Crossref 12. Gonatas NK, Gonatas J: Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism . J Neuropathol Exp Neurol 24:318-340, 1965.Crossref 13. Chou SM, Thompson HG: Electron microscopy of storage cytosomes in Kuf's disease . Arch Neurol 23:489-501, 1970.Crossref 14. Grenet P, Lestradet H, Dugas M, et al: Mucopolysaccharidose avec elimination d'hepari tine-sulfate (oligophrenie polydystrophique) Presse Med 74:2863-2868, 1966. 15. Harner R, Torres F: Electroencephalographic changes in Hurler's disease, abstracted . Electroencephalogr Clin Neurophysiol 18:201-202, 1965. 16. Hauser WA, Kriel RL, Sung JH: Electroencephalographic findings in Sanfilippo type A syndrome, abstracted . Electroencephalogr Clin Neurophysiol 40:321, 1976. 17. Rechtschaffen A, Kales A: A Manual of Standardized Terminology Techniques and Scoring System for Sleep Stages of Human Subjects, National Institutes of Health publication 204. US Government Printing Office, 1968. 18. Jouvet M: Recherches sur les structures nerveuses et les mechanismes responsables des differentes phases du sommeil physiologique . Arch Ital Biol 100:125-206, 1962. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Neuroanatomical and Electroencephalographic Correlations in Sanfilippo Syndrome, Type A

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Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1978.00500360062013
Publisher site
See Article on Publisher Site

Abstract

Abstract • Waking and all-night-sleeping electroencephalographic recordings were obtained on a boy with Sanfilippo disease, type A. The most striking abnormalities were noted during sleep and included (1) lack of progression through normal sleep stages, (2) absence of vertex waves and normal sleep spindles, (3) inability to stage sleep by the usual criteria, and (4) an unusual alteration of low-amplitude (12 to 15 Hz) activity with generalized delta frequencies. Subsequently, neuropathological examination was performed. The electrophysiological phenomena may be correlated with severe cortical involvement. References 1. Sanfilippo SJ, Podosin R, Langer L, et al: Mental retradation associated with acid mucopolysacchariduria (heparitin sulphate type), abstracted . J Pediatr 63:837-838, 1963.Crossref 2. Kresse H, Wiesmann U, Cantz M, et al: Biochemical heterogeneity of the Sanfilippo syndrome: Preliminary characterization of two deficient factors . Biochem Biophys Res Commun 42:892-898, 1971.Crossref 3. Kresse H, Neufeld EF: The Sanfilippo A corrective factor . J Biol Chem 247:2164-2170, 1972. 4. Wilder BJ: Activation of epileptic foci in psychomotor epilepsy . Epilepsia 10:418, 1969. 5. Ghatak NR, Fleming F, Hinman A: Neuropathology of Sanfilippo syndrome . Ann Neurol 2:161-166, 1977.Crossref 6. Wallace BJ, Kaplan D, Adachi M, et al: Mucopolysaccharidosis type III . Arch Pathol 82:462-473, 1966. 7. Jensen OA: Mucopolysaccharidosis type III (Sanfilippo's syndrome) . Acta Pathol Microbiol Scand 79(A):257-273, 1971. 8. Escourolle R, Berger B, Poirier J: Biopsie cerebrale d'un cas de mucopolysaccharidose H.S. (oligophrenie polydystrophique ou maladie de Sanfilippo): Etude histochimique et ultrastructurale . Presse Med 74:2869-2874, 1966. 9. Teller W, Bechtelsheimer H, Totovic V: Die Heparitinsulfat-mucopolysaccharidose (Sanfilippo): Klinische, biochemische, genetische, und morphologische untersuchungen . Klin Wochenschr 45:497-504, 1967.Crossref 10. Haust MD, Gordon BA, Bryans A, et al: Heparin sulfate mucopolysaccharidosis (Sanfilippo disease): A case study with ultrastructural, biochemical and radiological findings . Pediatr Res 5:137-150, 1971.Crossref 11. Loeb H, Jonniaux G, Resibois A, et al: Biochemical and ultrastructural studies in Hurler's syndrome . J Pediatr 73:860-874, 1968.Crossref 12. Gonatas NK, Gonatas J: Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism . J Neuropathol Exp Neurol 24:318-340, 1965.Crossref 13. Chou SM, Thompson HG: Electron microscopy of storage cytosomes in Kuf's disease . Arch Neurol 23:489-501, 1970.Crossref 14. Grenet P, Lestradet H, Dugas M, et al: Mucopolysaccharidose avec elimination d'hepari tine-sulfate (oligophrenie polydystrophique) Presse Med 74:2863-2868, 1966. 15. Harner R, Torres F: Electroencephalographic changes in Hurler's disease, abstracted . Electroencephalogr Clin Neurophysiol 18:201-202, 1965. 16. Hauser WA, Kriel RL, Sung JH: Electroencephalographic findings in Sanfilippo type A syndrome, abstracted . Electroencephalogr Clin Neurophysiol 40:321, 1976. 17. Rechtschaffen A, Kales A: A Manual of Standardized Terminology Techniques and Scoring System for Sleep Stages of Human Subjects, National Institutes of Health publication 204. US Government Printing Office, 1968. 18. Jouvet M: Recherches sur les structures nerveuses et les mechanismes responsables des differentes phases du sommeil physiologique . Arch Ital Biol 100:125-206, 1962.

Journal

Archives of NeurologyAmerican Medical Association

Published: Dec 1, 1978

References