Abstract
In two unrelated patients with Niemann-Pick type C disease MRI showed symmetrical cerebral and cerebellar atrophy and hypoplasia of the corpus callosum. T2-weighted images in one showed high signal areas in the posterior white matter.
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Maziére JC, Maziére C, Mora L, Lageron A, Polonovski C, Polonovski J (1986) Altération de la biosynthése, de l'éstérification et de l'éfflux du cholestérol dans les fibroblastes en culture de sujets atteints de maladie de Niemann-Pick type C. C. R Soc Biol 180: 669–676
Vanier MT, Wenger DA, Colmy ME, Rousson R, Brady RO, Pentchev PG (1988) Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. Clin Genet 33:331–348
Pentchev PG, Kruth HS, Colmy ME, Butler JD, Vanier MT, Wenger DA, Patel S (1986) Type C Niemann-Pick Disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts. J Biol Chem 261:16775–16780
Brady RO (1983) Sphingomyelin lipidoses: Niemann-Pick disease. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown M (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 831–841
Spence MW, Callahan JW (1989) Sphingomyelin-cholesterol lipidoses: the Niemann-Pick group of disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1655–1676
Martin JJ, Lowenthal A, Ceuterick C, Vanier MT (1984) Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C). J Neurol Sci 66:33–45
Fink JK, Filling-Katz MR, Sokol J, Cogan MD, Pikus A, Sonies B, Soong B, Pentchev PG, Colmy ME, Brady RO, Barton NW (1988) Clinical spectrum of Niemann-Pick disease type C. Neurology 39:1040–1049
Ley RA (1940) Etude neuropathologique de la maladie de Niemann-Pick (spléno-hépatomegalie lipidienne). J Belge Neurol Psychiat 40:57–82
Norman RM (1970) Niemann-Pick disease. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 10. North-Holland, Amsterdam-New York, pp 484–508
Jeret JS, Serur D, Wisniewski EK, Lubin RA (1987) Clinicopathological findings associated with agenesis of the corpus callosum. Brain Dev 9:255–264
Wende S, Ludwig B, Kishikawa T Rochel M, Gehler J (1984) The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood. J Neurol 231:57–70
Bamforth, F, Bamforth S, Poskitt K, Applegarth D, Hall J (1988) Abnormalities of corpus callosum in patients with inherited metabolic disease. Lancet ii:451
Kolodny EH (1989) Agenesis of the corpus callosum: a marker for inherited metabolic disease?. Neurology 39:847–848
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Palmeri, S., Battisti, C., Federico, A. et al. Hypoplasia of the corpus callosum in Niemann-Pick type C disease. Neuroradiology 36, 20–22 (1994). https://doi.org/10.1007/BF00599187
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DOI: https://doi.org/10.1007/BF00599187