title: Megalocornea and mental retardation syndrome: clinical and instrumental follow-up of a case.
abstract: Megalocornea-mental retardation syndrome, otherwise known as Neuhauser syndrome, is a rare autosomal recessive disorder. Only 36 cases have been reported in the literature. We describe the clinical and instrumental follow-up, lasting 5 years, of a case showing the typical features of the syndrome, associated with transient hypothyroidism, epilepsy, cerebral palsy with choreoathetotic movements, and brain malformation. Our report might help better delineate the phenotype and natural history of the syndrome.
authors.affiliation: Department of ANeurological and Psychiatrical Sciences, University of Bari, Bari, Italy. l.margari@neurol.uniba.it
authors.forename: Lucia
authors.initials: L
authors.lastname: Margari
authors.forename: Anna
authors.initials: A
authors.lastname: Presicci
authors.forename: Patrizia
authors.initials: P
authors.lastname: Ventura
authors.forename: Maura
authors.initials: M
authors.lastname: Buttiglione
authors.forename: Franca
authors.initials: F
authors.lastname: Dicuonzo
authors.forename: Caterina
authors.initials: C
authors.lastname: Lattarulo
authors.forename: Tommaso
authors.initials: T
authors.lastname: Perniola
mesh_terms: D002648:Child; D003316:Corneal Diseases / Q000150:complications* / Q000473:pathology; D004569:Electroencephalography / Q000379:methods; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D012196:Review Literature as Topic