Coffin-Siris Syndrome Type 1 with ARID1B Mutation: A Case Report of an 8-Year-Old Female with Seizure
Abstract
Background: Coffin-Siris Syndrome (CSS) is a rare genetic disorder characterized by developmental delays, distinctive facial features, and digital abnormalities. Mutations in the ARID1B gene account for the majority of genetically confirmed cases.
Case Presentation: We report an 8-year-old female who presented with seizure-like activity and was previously diagnosed with global developmental delay. Clinical examination revealed distinctive facial features including bushy eyebrows, depressed nasal bridge, thick nasal alae, and everted thick lips. Anthropometric assessment showed significant growth deficiencies with weight and BMI below -3SD, and height at -2SD. Developmental evaluation demonstrated severe delays across all domains, with developmental quotients ranging from 15% for gross motor skills to 40% for social milestones. Genetic testing confirmed a heterozygous mutation in the ARID1B gene (OM*614556), establishing the diagnosis of Coffin-Siris syndrome type 1 (OMIM#135900). Neurological workup including MRI and EEG yielded normal results despite the seizure presentation.
Discussion: This case exemplifies both typical and atypical features of CSS, highlighting the clinical heterogeneity of the syndrome even within genetically confirmed cases. While the patient demonstrated the characteristic facial phenotype and severe developmental delays consistent with CSS, she notably lacked several common features including fifth digit hypoplasia and hypertrichosis. The seizure episode at age 8 aligns with the known neurological manifestations of CSS, affecting approximately 50% of patients.
Conclusion: This case reinforces the importance of genetic testing in the diagnosis of CSS, particularly when the clinical presentation is incomplete. It emphasizes the need for multidisciplinary management including developmental interventions, neurological monitoring, and nutritional support. Long-term follow-up is essential to address emerging complications and optimize developmental outcomes.
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References
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