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Título

Syndrome 47, XYY: a case report from a neuropsychiatric perspective

RESUMO

Case Report: Male, 15 years old, had his first consultation approximately 6 years ago due to complaints from his parents regarding psychomotor agitation, heteroaggressiveness, hypoprosexia, and a possible tonic-clonic and generalized ictus pattern at 5 years of age without tongue biting and apparent triggers. He arrives on chlorpromazine, risperidone, biperidene, and valproic acid. Drug therapy is corrected to risperidone, carbamazepine, and clonazepam. Physical examination revealed macrotia, gait with right lateral-everted foot, plagiocephaly due to early fusion of the right lambdoid suture, and absence seizures. The psychomotor symptoms improved significantly with continued use of the prescribed therapy, but hetero-aggressiveness persisted. In complementary exams, cranial computed tomography (CT) scan showed encephalic hypotrophy with malformed gyrus dysmorphisms; electroencephalogram (EEG) showed negative spikes in temporal lobes and negative sharp wave asymmetry and the karyogram confirmed the diagnosis by resulting in a 47, XYY genotype. Discussion: Jacobs' syndrome or 47, XYY consists of an aneuploidy of the male sex chromosome. Typically, this nosological entity usually presents in association with cognitive, behavioral, and motor alterations. Van Rijn, in a recent systematic review, highlighted the prevalence of ASD and ADHD symptoms in XYY patients in most cases. Executive functions, such as working memory, cognitive flexibility, and inhibitory control, also suffer greater impairment compared to the general population. The cognitive alterations caused by syndrome 47, XYY are also linked to neuroanatomical alterations caused by the overexpression of homologous and holandric regions of the Y chromosome. The NLGN4Y gene, which is related to autistic spectrum symptoms and social responsiveness is an example of these overexpressed genes. Final Comments: The understanding of anatomical, physiological and cognitive alterations allows a better elucidation of the relationship between the Y chromosome and neuropsychomotor development. A striking feature of Jacobs syndrome are the behavioral and cognitive changes present in carriers; such changes are closely connected to neuroanatomical variations triggered by genetic reasons. This disorder, therefore, manifests itself as a peculiar intersection of genetic, neurological, and psychiatric factors, thus being a fertile field for the development of research that integrates several areas of medical knowledge.

Palavras Chave

47, XYY; Cognitive alterations; Heteroaggressiveness; Jacobs syndrome; Neuropsychiatry.

Área

Neurogenética