Abstract
Recent studies suggested a link between type 1 diabetes mellitus and pervasive developmental disorder. Moreover, permanent neonatal diabetes mellitus due to pancreatic agenesis can be associated with neurological deficit involving cerebellar functions, but no association with pervasive developmental disorder has been described so far. Clinical and neuropsychological evaluation of a child with pancreatic agenesis, mental retardation and pervasive developmental disorder is reported.
Highlights
Recent studies suggested a link between type 1 diabetes mellitus and pervasive developmental disorder (PDD) and hypothesized a common autoimmune pathogenesis or shared genetic factors [1]
Neuropsychological testing with Childhood Autism Rating Scale (CARS), Autism Diagnostic Interview (ADI) and Autism Diagnostic Observation Schedule (ADOS) lead to diagnosis of Pervasive Developmental Disorder Non Otherwise Specified (PDD-NOS), according to Diagnostic and Statistical Manual of Mental Disorders IV-R (DSM IV-R) criteria [5]. This is the first case of PDD diagnosed in a child with pancreas agenesis
Four patients from two consanguineous Pakistan families with pancreatic agenesis associated with cerebellar agenesis have been reported, so that association of both pancreatic system and central nervous system developmental failure has been previously described [6]
Summary
Recent studies suggested a link between type 1 diabetes mellitus and pervasive developmental disorder (PDD) and hypothesized a common autoimmune pathogenesis or shared genetic factors [1]. Italian Journal of Pediatrics 2009, 35:23 http://www.ijponline.net/content/35/1/23 cal damage was evident at subsequent neuroimaging studies. Karyotype was normal and search for Fragile-X Syndrome was negative, as well as genetic testing for the most common forms of neonatal diabetes [4].
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