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The Oculo-Cerebral-Renal Syndrome of Lowe: Neuromuscular Components

The Oculo-Cerebral-Renal Syndrome of Lowe: Neuromuscular Components Abstract Clinical, light microscopical, ultrastructural, and biochemical studies were done on nerve and muscle biopsy specimens from five patients with the oculo-cerebral-renal syndrome of Lowe. Four patients were American Indians, a racial group in whom this disease has not previously been recognized. The hypotonia, areflexia, and diffuse atrophy of muscles are associated with slowed motor nerve conduction velocities, and the morphologic changes in sensory nerves are attributed to a "dying-back" phenomenon probably resulting from an unknown metabolic derangement. References 1. Lowe CU, Terry M, MacLachlan EA: Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: A clinical entity . Am J Dis Child 83:164-184, 1952. 2. Abbassi V, Lowe CU, Calcagno PL: Oculocerebro-renal syndrome . Am J Dis Child 115:145-168, 1968.Crossref 3. MacGee J: Characterization of mammalian tissues and microorganisms by gas-liquid chromatography . J Gas Chromat 6:48-52, 1968.Crossref 4. Terslev E: Two cases of aminoaciduria, ocular changes and retarded mental and somatic development (Lowe's syndrome) . Acta Paediatr Scand 49:635-644, 1960.Crossref 5. Holmes GE, Tucker V: Oculo-cerebro-renal syndrome: A four generation family study and case reports of two living children . Clin Pediatr 11:119-124, 1972.Crossref 6. Garzuly F, Jellinger K, Szabo L, et al: Morbid changes in Lowe's oculo-cerebro-renal syndrome . Neuropadiatrie 4:304-313, 1973.Crossref 7. Engel WK: Muscle biopsy . Clin Orthop 39:80-105, 1965. 8. Hooft C, Valcke R, Herpol J, et al: Neurologie et neuropathologie du syndrome de Lowe . J Neurol Sci 3:353-373, 1966.Crossref 9. Chaptal J, Jean R, Grastes De Paulet A, et al: Étude clinique et biologique d'un enfant atteint d'un syndrome de Lowe . Arch Franc Pediatrie 16:849-850, 1959. 10. Brenton A, Gaudier B, Ponté C, et al: Syndrome de Lowe: Étude d'un observation . Pediatrie 14:908-915, 1959. 11. Richards W, Donnell GN, Wilson WA, et al: The oculo-cerebro-renal syndrome of Lowe . Am J Dis Child 100:707-709, 1960. 12. Richards W, Donnell GN, Wilson WA, et al: The oculo-cerebro-renal syndrome of Lowe . Am J Dis Child 109:185-203, 1965. 13. Chutorian A, Rowland LP: Lowe's syndrome . Neurology 16:115-122, 1966.Crossref 14. Rutsaert J, Segers-Cadranel A, Potvliege P: Lowe's syndrome: Pathological studies of four cases . Pathol Eur 7:249-262, 1972. 15. Appenzeller O, Snyder RD, Kornfeld M: Sural nerve biopsies in pediatric neurological disorders . Dev Med Child Neurol 12:42-48, 1970.Crossref 16. Prineas J: The pathogenesis of dying-back polyneuropathies: II. An ultrastructural study of experimental acrylamide intoxication in the cat . J Neuropathol Exp Neurol 28:598-621, 1969.Crossref 17. AppenzellerO, MacGee J: Gas-liquid chromatographic analysis of sural nerves in peripheral neuropathies . J Neurol Sci 7:593-603, 1968.Crossref 18. Appenzeller O, Kornfeld M, MacGee J: Neuropathy in chronic renal disease: A microscopic, ultrastructural, and biochemical study of sural nerve biopsies . Arch Neurol 24:449-461, 1971.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

The Oculo-Cerebral-Renal Syndrome of Lowe: Neuromuscular Components

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Publisher
American Medical Association
Copyright
Copyright © 1975 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1975.00490440053008
Publisher site
See Article on Publisher Site

Abstract

Abstract Clinical, light microscopical, ultrastructural, and biochemical studies were done on nerve and muscle biopsy specimens from five patients with the oculo-cerebral-renal syndrome of Lowe. Four patients were American Indians, a racial group in whom this disease has not previously been recognized. The hypotonia, areflexia, and diffuse atrophy of muscles are associated with slowed motor nerve conduction velocities, and the morphologic changes in sensory nerves are attributed to a "dying-back" phenomenon probably resulting from an unknown metabolic derangement. References 1. Lowe CU, Terry M, MacLachlan EA: Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: A clinical entity . Am J Dis Child 83:164-184, 1952. 2. Abbassi V, Lowe CU, Calcagno PL: Oculocerebro-renal syndrome . Am J Dis Child 115:145-168, 1968.Crossref 3. MacGee J: Characterization of mammalian tissues and microorganisms by gas-liquid chromatography . J Gas Chromat 6:48-52, 1968.Crossref 4. Terslev E: Two cases of aminoaciduria, ocular changes and retarded mental and somatic development (Lowe's syndrome) . Acta Paediatr Scand 49:635-644, 1960.Crossref 5. Holmes GE, Tucker V: Oculo-cerebro-renal syndrome: A four generation family study and case reports of two living children . Clin Pediatr 11:119-124, 1972.Crossref 6. Garzuly F, Jellinger K, Szabo L, et al: Morbid changes in Lowe's oculo-cerebro-renal syndrome . Neuropadiatrie 4:304-313, 1973.Crossref 7. Engel WK: Muscle biopsy . Clin Orthop 39:80-105, 1965. 8. Hooft C, Valcke R, Herpol J, et al: Neurologie et neuropathologie du syndrome de Lowe . J Neurol Sci 3:353-373, 1966.Crossref 9. Chaptal J, Jean R, Grastes De Paulet A, et al: Étude clinique et biologique d'un enfant atteint d'un syndrome de Lowe . Arch Franc Pediatrie 16:849-850, 1959. 10. Brenton A, Gaudier B, Ponté C, et al: Syndrome de Lowe: Étude d'un observation . Pediatrie 14:908-915, 1959. 11. Richards W, Donnell GN, Wilson WA, et al: The oculo-cerebro-renal syndrome of Lowe . Am J Dis Child 100:707-709, 1960. 12. Richards W, Donnell GN, Wilson WA, et al: The oculo-cerebro-renal syndrome of Lowe . Am J Dis Child 109:185-203, 1965. 13. Chutorian A, Rowland LP: Lowe's syndrome . Neurology 16:115-122, 1966.Crossref 14. Rutsaert J, Segers-Cadranel A, Potvliege P: Lowe's syndrome: Pathological studies of four cases . Pathol Eur 7:249-262, 1972. 15. Appenzeller O, Snyder RD, Kornfeld M: Sural nerve biopsies in pediatric neurological disorders . Dev Med Child Neurol 12:42-48, 1970.Crossref 16. Prineas J: The pathogenesis of dying-back polyneuropathies: II. An ultrastructural study of experimental acrylamide intoxication in the cat . J Neuropathol Exp Neurol 28:598-621, 1969.Crossref 17. AppenzellerO, MacGee J: Gas-liquid chromatographic analysis of sural nerves in peripheral neuropathies . J Neurol Sci 7:593-603, 1968.Crossref 18. Appenzeller O, Kornfeld M, MacGee J: Neuropathy in chronic renal disease: A microscopic, ultrastructural, and biochemical study of sural nerve biopsies . Arch Neurol 24:449-461, 1971.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Feb 1, 1975

References