Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder. Issue 1 (December 2015) - Philippe, Anne
Abstract Background Deletions and mutations involving theSHANK3 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 ofSHANK3 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 ofSHANK3 . The clinical features displayed by the girl strongly suggested the diagnosis ofdementia 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 ofSHANK3 haploinsufficiency. Therefore, we think it is crucial to look for mutations in the geneSHANK3 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.