Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome

Pediatric Neurology

Volumn 14, Issue 2, 1996, Pages 158-161

  Williams, Tracy E ^a   Buchhalter, Jeffrey R ^a   Sussman, Michael D ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b Shriners Hospital for Crippled   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN ARACHNOID CYST; BRAIN MALFORMATION; CASE REPORT; CATARACT; CEREBELLAR ATAXIA; CHILD; CLINICAL FEATURE; HUMAN; HYPOPLASIA; MALE; MARINESCO SJOGREN SYNDROME; MENTAL DEFICIENCY; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SEPTUM PELLUCIDUM; SYNDROME DELINEATION;

CATARACT; CEREBELLUM; CHILD; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; SPINOCEREBELLAR DEGENERATIONS;

EID: 0029991068     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/0887-8994(96)83273-5     Document Type: Article

References (41)

1. Marinesco G, Draganesco S, Vasiliu D. Nouvelle maladie familiale caracterise par une cataracte congenitale et un arret du developpement somato-neuropsychique. Encephale 1931;26:97.
2. Sjögren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia: Genetic and clinical investigation. Confin Neurol 1950;10:293-308.
3. Goto Y, Komiyama A. Tanabe Y, Katafuchi Y, Ohtaki E, Nonaka I. Myopathy in Marinesco-Sjögren syndrome: An ultrastructural study. Acta Neuropathol (Berl) 1990;80:123-8.
4. Sewry CA, Voit T, Dubowitz V. Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome. Ann Neurol 1988;24: 576-80.
5. Komiyama A, Nonaka I. Hirayama K. Muscle pathology in Marinesco-Sjögren syndrome. J Neurol Sci 1989;89:103-13.
6. Superneau DW, Wertelecki W, Zellweger H, Bastian F. Myopathy in Marinesco-Sjögren syndrome. Eur Neurol 1987;26:8-16.
7. Torbergsen T, Stalberg E, Aasly J, Lindal S. Myopathy in Marinesco-Sjögren syndrome: An electrophysiological study. Acta Neurol Scand 1991;84:132-8.
8. Torbergsen T, Aasly J, Borud O, Lindal S, Mellgren SI. Mitochondrial myopathy in Marinesco-Sjögren syndrome. J Ment Defic Res 1991;35:154-9.
9. Bromberg MB, Junck L, Gebarski SS, McLean MJ, Gilman S. The Marinesco-Sjögren syndrome examined by computed tomography, magnetic resonance, and 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography. Arch Neurol 1990;47:1239-42.
10. Kodama S, Komatsu M, Miyoshi M, Nakao H, Sakurai T, Man U. Marinesco-Sjögren syndrome with reduced cytochrome c oxidase in muscle. Kobe J Med Sci 1992;38:245-54.
11. Katafuchi Y, Kosai K, Ohtaki E, et al. Cerebral cortex and brainstem involvement in Marinesco-Sjögren syndrome [letter]. Ann Neurol 1990;27:448-9.
12. Begeer JH, Scholte FA, Van Essen AJ. Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. J Med Genet 1991;28:884-5.
13. Kendall B, Cavanagh N. Intracranial calcification in pediatric computed tomography. Neuroradiology 1986;28:324-30.
14. Herva R, von Wendt L, von Wendt G, Saukkonen AL, Leisti J, Dubowitz V. A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy. Neuropediatrics 1987;18:164-9.
15. Amyot R. Le syndrome de Marinesco-Sjögren, revue de la litterature: Trois observations personelles portant sur trois soeurs. Rev Neurol 1960;103:97-108.
16. Marks HG, Kelleher F, DeLeon GA, Bowen JR. Muscle mitochondrial abnormalities in the Marinesco-Sjögren syndrome. Ann Neurol 1980;8:120-2.
17. Ishikawa T, Kitoh H, Awaya A, Nonaka I. Rapid cataract formation in Marinesco-Sjögren syndrome. Pediatr Neurol 1993;9:407-8.
18. Walker P, Blitzer M, Shapira E. Marinesco-Sjögren syndrome: Evidence for a lysosomal storage disorder. Neurology 1985;35:415-9.
19. Chou Y, Lin M, Wang P, Wang T, Shen Y. Marinesco-Sjögren syndrome: Report of one case. Acta Paediatr Sin 1992;33:212-7.
20. Dotti M, Bardell A, de Stefano N, Federico A, Vanni M, Guazzi G. Optic atrophy in Marinesco-Sjögren syndrome, an additional ocular feature. Ophthalmic Paediatr Genet 1993;14:5-7.
21. Andersen B. Marinesco-Sjögren syndrome: Spinocerebellar ataxia, congenital cataract, somatic and mental retardation. Dev Med Child Neurol 1965;7:249-57.
22. Skre H, Berg K. Linkage studies on the Marinesco-Sjögren syndrome and hypergonadotropic hypogonadism. Clin Genet 1977;11: 57-66.
23. Skre H, Bassoe HH, Berg K, Frovig AG. Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Clin Genet 1976;9: 234-44.
24. Newton VE. Sensorineural hearing loss and the Marinesco-Sjögren syndrome. J Laryngol Otol 1991;105:210-12.
25. Alter M, Talbert R, Croffread G. Cerebellar ataxia, congenital cataracts, and retarded somatic and mental retardation. Neurology 1962; 12:836-47.
26. Garland H, Moorhouse D. An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features. J Neurol Neurosurg Psychiatry 1953;16:110-6.
27. Mahloudji M, Amirhakimi GH, Haghighi P, Khodadoust AA. Marinesco-Sjögren syndrome - report at autopsy. Brain 1972;95:675-80.
28. Lundberg P. Hereditary myopathy, oligophrenia, cataract, skeletal abnormalities and hypergonadotropic hypogonadism. Eur Neurol 1973;10:261-80.
29. Chaco J. Marinesco-Sjögren syndrome with myopathy. Confin Neurol 1969;31:349-51.
30. Tachi N, Nagata N, Wakai S, Chiba S. Congenital muscular dystrophy in Marinesco-Sjögren syndrome. Pediatr Neurol 1991;7:296-8.
31. Hakamada S, Sobue G, Watanabe K, Kumagai T, Harak T, Miyazaki S. Peripheral neuropathy in Marinesco-Sjögren syndrome. Brain Dev 1981;3:403-6.
32. Norwood W. The Marinesco-Sjögren syndrome. J Pediatr 1964; 65:431-7.
33. Richards BW. Cataracts, ataxia and mental deficiency: A report of two cases. J Ment Sci 1950;96:537-30.
34. MacGillivray RC. Oligophrenia, cerebellar ataxia and cataract: The syndrome of Marinesco-Garland. Am J Ment Defic 1957;61:716-24.
35. Dureaux JB, Cordier J, Ziza P, Tridon P. Heredotaxie, cataracte et oligophrenie (syndrome de Marinesco-Sjögren). Rev Neurol 1958;98: 777.
36. Alter M, Kennedy W. The Marinesco-Sjögren syndrome. Hereditary cerebellolental degeneration with mental retardation. Minn Med 1968;51:901-6.
37. Ron MA, Pearce J. Marinesco-Sjögren-Garland syndrome with unusual facial features. J Neurol Sci 1971;13:175-9.
38. Ionescu M. Tulburari endocrine si de metabolism la o bolnava cu sindrom Marinesco-Sjögren. Neurologica Psihiatr Neurochir (Buchar) 1970;15:145-57.
39. Todorov A. Le syndrome de Marinesco-Sjögren. Premiere etude anatomoclinique. Thesis. J Genet Hum 1965;14:197-233.
40. Barkovich A, Norman D. Absence of the septum pellucidum: A useful sign in the diagnosis of congenital brain malformations. Am J Neurorad 1988;9:1107-14.
41. Harding BN. Malformations of the nervous system. In: Adams JH, Duchen LW, eds. Greenfield's Neuropathology. New York: Oxford University Press, 1992:579-613.