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Background  Deletions and mutations involving the  SHANK3  gene lead to a nonspecific clinical presentation with moderate to profound intellectual disability, severely delayed or absent speech, and autism spectrum disorders (ASD).  Better knowledge of the clinical spectrum of  SHANK3  haploinsufficiency is useful to facilitate clinical care monitoring and to guide molecular diagnosis, essential for genetic counselling.    Case presentation  Here, we report a detailed clinical description of a 10-year-old girl carrying a pathogenic interstitial 22q13.3 deletion encompassing only the first 17 exons of  SHANK3 .  The clinical features displayed by the girl strongly suggested the diagnosis of  dementia infantilis,  described by Heller in 1908, also known as childhood disintegrative disorder.    Conclusion  Our present case confirms several observations according to which regression may be part of the clinical phenotype of  SHANK3  haploinsufficiency. Therefore, we think it is crucial to look for mutations in the gene  SHANK3  in patients diagnosed for childhood disintegrative disorder or any developmental disorder with a regressive pattern involving social and communicative skills as well as cognitive and instinctual functions, with onset around 3 years.

bmc psychiatry

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder