Coexistence of Autism with Neurofibromatosis type 1

Abstract

Autism is a developmental disorder that usually appears during the first three years of childhood. It results from a nervous system disorder, which affects brain functions. Neurofibromatosis 1 (NF 1) is a group of genetic diseases that mainly affect the growth of neural tissue cells. This alteration is also known as von Recklinghausen's disease. The objective of this study is to highlight a case of this neurocutaneous alteration (NF 1) which was associated with autism spectrum disorders at the age of eight years. The data for this study are extracted from the medical file of a 12-year-old boy with confirmed autism who has been taken care of by the "Applied Behavioral Analysis" (ABA) center in Morocco since the age of three. At the age of eight, the appearance of numerous café-au-lait spots on his body led the center to conduct neuroradiological investigations (T1, T2 and Flair). The examinations had revealed T2 hyper intensity signals involving several unidentified bright objects (UBO) and the globus pallidus was the most affected area. With ASD alone, the child faces various disorders of the nervous system and many difficulties in his socio-communicative life. The onset of NF1 gave rise to additional complications.