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AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticlePediatric Neuroimaging

Encephalocraniocutaneous Lipomatosis: Complete Neuroradiologic Evaluation and Follow-up of Two Cases

Cecilia Parazzini, Fabio Triulzi, Gianni Russo, Massimo Mastrangelo and Giuseppe Scotti
American Journal of Neuroradiology January 1999, 20 (1) 173-176;
Cecilia Parazzini
aFrom the Departments of Neuroradiology (C.P., F.T., G.S.) and Pediatrics (G.R.), Scientific Institute H. S. Raffaele, and the Department of Neurophysiopathology (M.M.), University of Milan, Italy.
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Fabio Triulzi
aFrom the Departments of Neuroradiology (C.P., F.T., G.S.) and Pediatrics (G.R.), Scientific Institute H. S. Raffaele, and the Department of Neurophysiopathology (M.M.), University of Milan, Italy.
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Gianni Russo
aFrom the Departments of Neuroradiology (C.P., F.T., G.S.) and Pediatrics (G.R.), Scientific Institute H. S. Raffaele, and the Department of Neurophysiopathology (M.M.), University of Milan, Italy.
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Massimo Mastrangelo
aFrom the Departments of Neuroradiology (C.P., F.T., G.S.) and Pediatrics (G.R.), Scientific Institute H. S. Raffaele, and the Department of Neurophysiopathology (M.M.), University of Milan, Italy.
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Giuseppe Scotti
aFrom the Departments of Neuroradiology (C.P., F.T., G.S.) and Pediatrics (G.R.), Scientific Institute H. S. Raffaele, and the Department of Neurophysiopathology (M.M.), University of Milan, Italy.
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References

  1. ↵
    Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. Arch Neurol 1970;22:144-155
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  2. ↵
    Walbaum R, Van de Velde-Staquet MF, Bahon-Le Capon J, et al. Neurolipomatose avec dysplasie encephalo-oculo-cutanee. Pediatrie 1979;34:717-723
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    Nosti-Martinez D, Del Castillo V, Duran-Mckinster C, Tamayo-Sanchez L, Orozco-Covarrubias M, Ruiz-Maldonado R. Encephalocraniocutaneous lipomatosis: an uncommon neurocutaneous syndrome. J Am Acad Dermatol 1995;32:387-389
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    Loggers HE, Oosterwijk JC, Overweg-Plandosen WCG, Van Wilsem A, Bleeker-Wagemakers EM, Bijlsma JB. Encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. Ophthalmic Genet 1992;13:171-177
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    Rizzo R, Pavone L, Micali G, Nigro F, Cohen MM. Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. Am J Med Genet 1993;47:653-655
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    McMullin GP, Super M, Clarke MA. Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual, handicap and epilepsy: a report of two cases. Clin Genet 1993;44:249-253
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    Bamforth JSG, Riccardi VM, Thisen P, et al. Encephalocraniocutaneous lipomatosis: report of two cases and a review of the literature. Neurofibromatosis 1989;2:166-173
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  8. Kodsi SR, Bloom KE, Egbert JE, Holland EJ, Cameron JD. Ocular and systemic manifestations of encephalocraniocutaneous lipomatosis. Am J Ophthalmol 1994;118:77-82
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    McCall S, Ramzy MI, Curè JK, Pai GS. Encephalocraniocutaneous lipomatosis and the Proteus syndrome. Am J Med Genet 1992;43:662-668
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  10. Sanchez NP, Rhodes AR, Mandell F, Mihm MC. Encephalocraniocutaneous lipomatosis: a new neurocutaneous syndrome. Br J Dermatol 1981;104:89
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    Baker RS, Ross PA, Baumann RJ. Neurologic complications of the epidermal nevus syndrome. Arch Neurol 1987;44:227-232
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  12. Legius E, Wu R, Eyssen M, Marynem P, Fryns JP, Cassiman JJ. Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet 1995;32:316-319
    Abstract/FREE Full Text
  13. Venencie PY, Husson B, Lacroix C, Zerah M, Tardieu M. Lipomatose encéphalo-cranio-cutanée: une observation. Ann Dermatol Venereol 1993;120:766-767
    PubMedWeb of Science
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American Journal of Neuroradiology
Vol. 20, Issue 1
1 Jan 1999
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Cite this article
Cecilia Parazzini, Fabio Triulzi, Gianni Russo, Massimo Mastrangelo, Giuseppe Scotti
Encephalocraniocutaneous Lipomatosis: Complete Neuroradiologic Evaluation and Follow-up of Two Cases
American Journal of Neuroradiology Jan 1999, 20 (1) 173-176;

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Encephalocraniocutaneous Lipomatosis: Complete Neuroradiologic Evaluation and Follow-up of Two Cases
Cecilia Parazzini, Fabio Triulzi, Gianni Russo, Massimo Mastrangelo, Giuseppe Scotti
American Journal of Neuroradiology Jan 1999, 20 (1) 173-176;
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  • Encephalocraniocutaneous lipomatosis
  • Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype
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