Oculocutaneous albinism and autism: A case report and review of literature

Otistik bozukluk; iletişimde ve sosyal etkileşimde bozulmalara neden olan, ayrıca, tekrarlayıcı davranışlarla giden genetik yönü güçlü olan bir bozukluktur. Çok sayıda kalıtsal tıbbi ve psikolojik bozuklukla çocukluk çağı otizmi arasında ilişki olduğu bildirilmiş, bu bozuklukların çoğu, otizmin etiyolojisinde genetiğin rolü konusunda ışık tutmuştur. Literatürde, otizm ve okülokütanöz albinizm birlikteliği nadir olarak bildirilmiştir. Bu yazıda, otizm ve okülokütanöz albinizmi olan 2 yaş 6 aylık bir olgu sunulmuştur. Bu ilişki ve etkilenen kişilerin aile bireyleri ile ilgili daha önce yayınlanmış az sayıda bildiri mevcuttur. Tüm bu bildirimler ve sunulan olgu, çocukluk çağı otizmi ve okülokütanöz albinizm arasında genetik bir ilişkinin olup olmadığı düşüncesini akla getirmektedir.

Okülokütenöz albinizm ve otizm: Olgu sunumu ve literatür derlemesi

Autistic disorder is a highly heritable disorder characterized by impaired communication, social interaction, and repetitive behaviors. Several inherited medical and psychological disorders have been reported in association with childhood autism and many of these disorders shed light on the role of genetics in the etiology of childhood autism. Association of autism and oculocutaneous albinism is rarely reported in the literature. Herein, we report the joint occurrence of autistic disorder (AD) and oculocutaneous albinism (OCA) in a two-year and six-month old boy. This association was documented in a few previous reports about the affected individuals and families of individuals with childhood autism. All these reports and this case connote whether childhood autism has any genetic and clinical relationship with oculocutaneous albinism.

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