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ARTICLES: Kenichi Yamada, Hitoshi Matsuzawa, Makoto Uchiyama, Ingrid L. Kwee, and Tsutomu Nakada Brain Developmental Abnormalities in Prader-Willi Syndrome Detected by Diffusion Tensor Imaging Pediatrics 2006; 118: e442-e448 [Abstract] [Full text] [PDF]

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Cerebellar abnormalities in PWS

Luigi Titomanlio, Ennio Del Giudice, Philippe Evrard   (12 October 2006)

Cerebellar abnormalities in PWS 12 October 2006
Luigi Titomanlio, MD Department of Child Neurology, University Hospital R Debré, Paris, France, Ennio Del Giudice, Philippe Evrard Send letter to journal: Re: Cerebellar abnormalities in PWS luigi.titomanlio{at}rdb.aphp.fr Luigi Titomanlio, et al.	Dear Editor, we red with interest the article by Yamada et al. We recently reported a 3-y-old male infant with Prader-Willi syndrome due to an interstitial deletion of 15q11-q13 (1). He also showed an unilateral cerebellar hemisphere hypoplasia. Reveiwing the literature, we found that some other cases of PWS patients with cerebellar structural anomalies had been described, including autopsy cases. Unfortunately, Yamada et al. did not consider the cerebellum among the brain regions they analysed by DTI. The data by Yamada et al. and our data confirm that structural CNS abnormalities are a frequent finding, and their relationship with the neurological and cognitive phenotype of PWS patients should be further investigated. Future research in this field will probably elucidate the subtle links between CNS structure anomalies, mental retardation and specific cognitive profiles. (1) Titomanlio L, De Brasi D, Romano A, Genesio R, Diano AA, Del Giudice E. Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome. Acta Paediatr. 2006 Jul;95(7):861-3. Conflict of Interest: None declared