DYSTROPHIE MUSCULAIRE CONGENITALE, HYDROCEPHALIE, MALFORMATION DE TYPE DANDY-WALKER ET LEUCODYSTROPHIE

M. Di Rocco, L. Leveratto, A. Cama, M. Bado, P. Tortori Donati, L. Andreussi, C. Borrone

Research output: Contribution to journalArticlepeer-review

Abstract

Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy: We report on a patient affected by congenital muscular dystrophy, severe psychomotor retardation, severe hypotonia, papillar hypoplasia and peculiar NMR pattern of hydrocephalus, Dandy-Walker malformation and leukodystrophy. These findings are intermediate between Walker-Walburg syndrome, Fukuyama disease and Occidental congenital muscular dystrophy. Our case focuses on the wide spectrum of congenital muscle dystrophy associated with central nervous system disease and on the difficulties of genetic counseling in these families.

Original languageEnglish
Pages (from-to)295-298
Number of pages4
JournalGenetic Counseling
Volume4
Issue number4
Publication statusPublished - 1993

Keywords

  • Congenital muscle dystrophy
  • Leukodystrophy
  • Walker-Warburg disease

ASJC Scopus subject areas

  • Genetics(clinical)

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