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.
|Number of pages||3|
|Journal||Journal of Child Neurology|
|Publication status||Published - Apr 2001|
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health