A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder

作者：Watanabe Yoriko^*; Yano Shoji; Niihori Tetsuya; Aoki Yoko; Matsubara Yoichi; Yoshino Makoto; Matsuishi Toyojiro

来源：Brain & Development, 2011, 33(7): 576-579.

DOI：10.1016/j.braindev.2010.10.006

• LEOPARD syndrome
• Noonan syndrome
• Autism spectrum disorders (ASDs)
• RAS/MAPK signal transduction pathway

A connection between LEOPARD syndrome (a rare autosomal dominant disorder) and autism spectrum disorders (ASDs) may exist. Of four related individuals (father and three sons) with LEOPARD syndrome, all patients exhibited clinical symptoms consistent with ASDs. Findings included aggressive behavior and impairment of social interaction, communication, and range of interests. The coexistence of LEOPARD syndrome and ASDs in the related individuals may be an incidental familial event or indicative that ASDs is associated with LEOPARD syndrome. There have been no other independent reports of the association of LEOPARD syndrome and ASDs. Molecular and biochemical mechanisms that may suggest a connection between LEOPARD syndrome and ASDs are discussed.

• 出版日期2011-8