Presentation of Autism in a child with Oculocutaneous Albinism

INTRODUCTION: Autism is a neurodevelopmental disorder with impairment in social communication and with restricted repetitive behaviours About 1% to 60% of children with hypomelanotic skin disorders have autism. CASE SUMMARY: A 3 year old female child had low weight and Neonatal ICU stay at birth, delay in fine motor, social cognition and language, and hyperactivity, along with inappropriate behaviors, poor eye contact and solitary play. Ophthalmology consultation showed foveal hypoplasia and was diagnosed to have oculocutaneous albinism. Paediatricians referred the child to Psychiatry for hyperactivity symptoms. On Psychiatric evaluation, objective assessments showed evidence of autism. DISCUSSION: Autism spectrum disorders are one of the most common neurodevelopmental disorders associated with various comorbidities which could make the core diagnosis of autism challenging. Even though albinism with poor eye sight and intellectual disability secondary to neonatal insult can itself cause all the above clinical features, the child scored high in Modified Checklist for Autism in Toddlers (M-CHAT) and Childhood Autism Rating Scale (CARS) and diagnosed as Severe Autism, which could have been easily missed if not evaluated for. CONCLUSION: Autism is difficult to diagnose without adequate expertise and it is necessary to get Psychiatry liaison in any child with suspected atypical behaviour for early diagnosis and treatment.