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Megalocornea and Mental Retardation Syndrome: Clinical and Instrumental Follow-Up of a Case

Department of Neurologic and Psychiatric Sciences Child Neuropsychiatric Service University of Bari, l.margari{at}neurol.uniba.it.

Anna Presicci, MD

Department of Neurologic and Psychiatric Sciences Child Neuropsychiatric Service University of Bari

Patrizia Ventura, MD

Department of Neurologic and Psychiatric Sciences Child Neuropsychiatric Service University of Bari

Maura Buttiglione, MD

Department of Neurologic and Psychiatric Sciences Child Neuropsychiatric Service University of Bari

Franca Dicuonzo, MD

Department of Neurologic and Psychiatric Sciences Neuroradiologic Service University of Bari

Caterina Lattarulo, MD

Department of Neurologic and Psychiatric Sciences Child Neuropsychiatric Service University of Bari Bari, Italy

Tommaso Perniola, MD

Department of Neurologic and Psychiatric Sciences Child Neuropsychiatric Service University of Bari Bari, Italy

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. (J Child Neurol 2006;21:893—896; DOI 10.2310/ 7010.2006.00202).

Journal of Child Neurology, Vol. 21, No. 10, 893-896 (2006)
DOI: 10.1177/08830738060210100801


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