Dados do Trabalho

Título

DESANTO-SHINAWI SYNDROME: CASE REPORT

Apresentação do caso único

A female patient, the child of healthy, non-consanguineous parents with a family history of intellectual disability in maternal and paternal uncles, was diagnosed with significant congenital scoliosis at birth and exhibited delayed neuropsychomotor development. Over time, she developed cerebral palsy with progressive behavioral deterioration, characterized by psychomotor agitation, repetitive movements, behavioral rigidity, irritability, self-harm, and food selectivity. At 15 years old, she was referred to genetics due to the combination of facial dysmorphisms, congenital scoliosis, and behavioral symptoms.
Several studies were conducted, including CGH Array, echocardiogram, renal ultrasound, brain MRI, as well as psychiatric and neurological evaluations. Although the CGH Array, MRI, echocardiogram, and renal ultrasound were normal, the psychiatric evaluation suggested a possible autism spectrum disorder, leading to treatment with risperidone. During the neurological evaluation, large central incisors, enophthalmos, geographic tongue, and dysarthria were observed, along with other minor signs. A diagnosis of mild/moderate intellectual disability, autism spectrum disorder, and suspected genetic syndrome was concluded. Given the normality of the initial tests, exome sequencing was performed, identifying a pathogenic heterozygous variant in the WAC gene, confirming the diagnosis of DeSanto-Shinawi Syndrome (DESSH).

Discussão

DESSH, caused by a heterozygous mutation in the WAC gene on chromosome 10p11, is an extremely rare disease, with approximately 100 cases reported worldwide. It is characterized by syndromic intellectual disability, dysmorphic features, developmental delay, behavioral problems, visual and auditory anomalies, constipation, and feeding difficulties. Behavioral abnormalities are variable but common, including aggression, anxiety, attention deficit, and/or autistic traits.

Comentários finais

This case highlights the importance of genetic diagnosis in patients with developmental delay, congenital scoliosis, and behavioral symptoms, underscoring the need for a multidisciplinary approach and early access to specialized evaluations to optimize management and improve quality of life.

Referências

DeSanto C., D'Aco K., Araujo GC, et al. Mutações de perda de função WAC causam uma síndrome reconhecível caracterizada por características dismórficas, atraso no desenvolvimento e hipotonia e recapitulam a síndrome de microdeleção 10p11.23. Journal of Medical Genetics . 2015; 52 (11):754–761. doi: 10.1136/jmedgenet-2015-103069.
Vanegas S., Ramirez-Montaño D., Candelo E., Shinawi M., Pachajoa H. Síndrome de DeSanto-shinawi: primeiro caso na América do Sul. Molecular Syndromology . 2018; 9 (3):154–158. doi: 10.1159/000488815.
Zhang YJ, Yao PL, Zhou YF, et al. Variação patogênica do gene WAC causa síndrome de DeSanto-Shinawi com estado de mal epiléptico elétrico durante o sono. Zhonghua Er Ke Za Zhi. Revista Chinesa de Pediatria . 2019; 57 (10):802–804. doi: 10.3760/cma.j.issn.0578-1310.2019.10.015.
Smeets T., Ishige T., Hattori S., et al. Três pacientes com síndrome de DeSanto-Shinawi: delineamento fenotípico adicional. American Journal of Medical Genetics Parte A. 2018 ; 176 (6):1335–1340. doi: 10.1002/ajmg.a.38703.

Palavras Chave

DeSanto-Shinawi Syndrome; Genetic Diagnosis; Behavioral Symptoms