Spastic Diplegia in a Haitian Girl with Angelman Syndrome

• Published in: Journal of pediatric genetics (Birmingham, Ala.) Vol. 9; no. 2; pp. 104 - 108
• Main Authors: Latchman, Kumarie, Nieto-Moreno, Margarita, Alberola, Roberto Lopez
• Format: Journal Article
• Language: English
• Published: Stuttgart · New York Georg Thieme Verlag KG 01.06.2020
• Subjects: Case Report; Angelman syndrome; spastic diplegia; UBE3A
• ISSN: 2146-4596; 2146-460X
• DOI: 10.1055/s-0039-1697029

Abstract Spastic diplegia, a muscle hypertonia motor syndrome, can occur in conjunction with the characteristic abnormal movement features of Angelman syndrome (AS), a neurodevelopmental disorder with primary features of ataxic gait, happy demeanor, developmental delay, speech impairment, intellectual disability, microcephaly, and seizures. Spastic diplegia is classically associated with cerebral palsy (CP), an umbrella term encompassing developmental delay, abnormal brain magnetic resonance imaging findings, and various types of CP including spastic, ataxic, dyskinetic, and mixed types. We present a 12-year-old Haitian patient of African descent with AS due to a microdeletion involving the entire UBE3A (ubiquitin-protein ligase E3A) gene and spastic diplegia. She was initially given a clinical diagnosis of CP. Cases of AS in patients of African descent have been rarely reported and this case of severe spastic diplegia, unresponsive to medical intervention, reflects a rarely reported presentation of AS in patients of African descent and possibly the first reported case of a Haitian patient with this clinical presentation. Given that deletions are the most common mechanism resulting in AS, this case report provides supportive evidence that chromosome 15q11 deletion-type AS is most frequently associated with spastic diplegia, a more severe motor impairment phenotype in AS.