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Abstract
Autism spectrum disorder is a complex neurodevelopmental behavioral syndrome, characterizedby social interaction deficits and loss in verbal and nonverbal communication with stereotyped andrestricted patterns of interests and behavior. Currently, the diagnosis is based on behavioralassessments and no biologic markers have yet been identified, as well as causes, that remainsunknown in more than 80% of patients. In the last few years, multiple metabolic diseases have beenassociated with autism spectrum manifestations, as well as misdiagnosed as autism, by thesimilarity in their symptomatology in the early stages of metabolic diseases.
Inborn errors of metabolism (IEM) can probably account for less than 5% of individuals with autism,including lysosomal storage diseases, disorders of the creatine synthesis, disorders of purine andpyrimidine metabolism or dysfunction of the urea cycle. Although IEM, in percentage, areresponsible for a relatively small number of autism spectrum cases, it is important to recognize incertain individuals an early detection of the metabolic disorder and an appropriate treatmentmanagement may improve the long-term behavioral and cognitive prognosis.
In this case report, the metabolic disease in question is Niemann Pick type C (NPC), a rare,autosomal recessive, neurodegenerative disease associated with a wide variety of progressiveneurological manifestations, which can initially be diagnosed, by its similarities, as autism. In thisregard, the importance of the physicians to increase the clinical awareness is highlighted, so that inthe presence of a diagnosis of autism that develops an atypical and syndromic clinical picture, suchas NPC, the study of metabolic diseases is performed, in particular through specific biomarkers,enzymatic and molecular studies, so that the diagnosis of IEM is made in a more timely manner, toallow the initiation of treatment still in an early phase.
