title: [Walker-Warburg syndrome: cerebro-ocular dysgenesis and congenital muscular dystrophy].
abstract: We report the case of an infant with facial dysmorphism, congenital hydrocephalus, severe hypotonia and absence of psychomotor development, with ocular and cerebral malformations consistent with the diagnosis of Walker-Warburg syndrome (WWS). Investigations included a cerebral CT scan indicative of type II lissencephaly and a muscular biopsy which showed findings of muscular dystrophy. The association of hypotonia, developmental delay and seizures with a neuronal migration disturbance and retinal involvement raised the suspicion of a peroxisomal disorder. The pertinent biochemical investigations, however, were negative. The features of this syndrome are reviewed, emphasizing the similarities with other related disorders as cerebro-oculo-muscular syndrome. We suggest that muscle involvement should be investigated in every case of WWS.
authors.affiliation: Unidad de Neurología Infantil, Universidad Autónoma, Barcelona.
authors.forename: A
authors.initials: A
authors.lastname: Macaya Ruiz
authors.forename: M
authors.initials: M
authors.lastname: Roig Quilis
authors.forename: S
authors.initials: S
authors.lastname: Sancho Olivé
authors.forename: C
authors.initials: C
authors.lastname: Navarro Fernández-Valbuena
authors.forename: M
authors.initials: M
authors.lastname: Tallada Serra
authors.forename: M
authors.initials: M
authors.lastname: Olesti Marco
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D009136:Muscular Dystrophies / Q000151:congenital*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
vernacular_title: Síndrome de Walker-Warburg: disgenesia cerebro-ocular y distrofia muscular congénita.