Megalocornea and mental retardation syndrome: clinical and instrumental follow-up of a case.
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.
Margari
Lucia
L
Department of ANeurological and Psychiatrical Sciences, University of Bari, Bari, Italy. l.margari@neurol.uniba.it
Presicci
Anna
A
Ventura
Patrizia
P
Buttiglione
Maura
M
Dicuonzo
Franca
F
Lattarulo
Caterina
C
Perniola
Tommaso
T
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