Dados do Trabalho

Título

POTOCKI-SHAFFER SYNDROME WITH AUTISM SPECTRUM DISORDER: A MULTIDISCIPLINARY APPROACH TO A RARE GENETIC DISORDER

Apresentação do caso único

This report discusses a 2-year-old male from Barra Grande, Piauí, diagnosed with Potocki-Shaffer syndrome (PSS), a genetic disorder caused by a 5.2 Mb deletion in the chromosomal region 11p12-p11.2. This case is further complicated by the presence of Autism Spectrum Disorder (ASD), highlighting the need for an integrated diagnostic and management approach. The child exhibited early developmental delays, macrocephaly, micropenis, and behaviors typical of ASD, such as limited social interactions and repetitive behaviors. Noteworthy prenatal factors included maternal alcohol use and a genetic predisposition within the family. Genetic analysis revealed significant deletions impacting genes including ALX4 and EXT2, associated with the observed physical and developmental phenotypes. This case underscores the complexities of managing dual-diagnosed PSS and ASD, emphasizing the importance of early and precise genetic testing for effective intervention.

Discussão

Managing PSS with ASD requires a comprehensive and multidisciplinary approach. This case illustrates the necessity of early genetic identification to tailor interventions that address both the genetic and behavioral challenges presented by these conditions. Effective management includes a combination of physiotherapy, speech therapy, and specialized pediatric care, alongside targeted behavioral and educational interventions to support the child’s development

Comentários finais

This case adds valuable insights into the clinical literature on the rare but impactful combination of PSS with ASD, demonstrating the intricate needs of affected patients and the importance of a personalized care strategy. It calls for continued research into the genetic mechanisms of PSS and their relationship with neurodevelopmental disorders to improve outcomes and quality of life for these patients.

Referências

Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L. Potocki–Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet Part A. 2010;152A:565-572.

Carvalho CMB, Zhang F, Lupski JR. Genomic Disorders: A Window into Human Gene and Genome Evolution. Proc Natl Acad Sci USA. 2010;107:1765-1771.

Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR. Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements. Am J Hum Genet. 2003;72:1101-1116.

Trajkova S, Di Gregorio E, Ferrero GB, Carli D, Pavinato L, Delplancq G, Kuentz P, Brusco A. New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. Brain Sci. 2020;10:788.

Hagan JF, Shaw JS, Duncan PM, editors. Bright futures: Guidelines for health supervision of infants, children, and adolescents. 3rd edition. Elk Grove Village: American Academy of Pediatrics; 2008.

Palavras Chave

Potocki-Shaffer Syndrome; AUTISM SPECTRUM DISORDER; early intervention