A Rare Case of Dual De Novo Mutations Presenting With Infantile Spasms, Congenital Contractures, and Axial Hypotonia
Year: 2025
Type: article
Study design: Case Report
Abstract: This report presents the case of a male infant with a complex neonatal course marked by congenital hand and foot deformities, axial hypotonia, and subsequent development of treatment-resistant infantile spasms. Despite extensive initial investigations yielding normal results, including a normal brain magnetic resonance imaging (MRI), whole exome sequencing (WES) revealed two distinct, likely de novo, autosomal dominant mutations: a pathogenic variant in the CACNA1E gene, consistent with Developmental and Epileptic Encephalopathy-69 (DEE69), and a likely pathogenic variant in the FBN1 gene, an incidental finding with significant implications for long-term cardiovascular health. This case highlights the diagnostic power of WES in complex neurodevelopmental disorders and underscores the challenges in managing multifactorial presentations.
Source: Cureus
DOI: 10.7759/cureus.98495
Author: Hadi Fakih
Institutions: Lebanese University, Sheikh Ragheb Harb Hospital
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4417026491