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Facial and Skeletal Malformations, Mental Retardation, Aganglionosis, and Neurogenic Muscle Weakness: A Variant of Niikawa-Kuroki Syndrome or a New Syndrome?

Corrado Romano, MD

Department of Pediatric, Oasi Institute for Research on Mental Retardation and Brain Aging Troina, Italy

Maurizio Elia, MD

Department of NeuroLogy Oasi Institute for Research on Mental Retardation and Brain Aging Troina, Italy

We report a 10-year-old boy with multiple congenital anomalies/mental retardation syndrome, who also presented with aganglionosis and neurogenic muscle weakness. Some phenotypic manifestations of our patient overlap with those observed in the Niikawa-Kuroki syndrome; however, the hypothesis of a new distinct entity, with simultaneous involvement of the central and peripheral nervous system, is considered. (J Child Neurol 2001;16:296-298).

Journal of Child Neurology, Vol. 16, No. 4, 296 (2001)
DOI: 10.1177/088307380101600414


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