J Pediatr Genet 2020; 09(02): 104-108
DOI: 10.1055/s-0039-1697029
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Spastic Diplegia in a Haitian Girl with Angelman Syndrome

1   Department of Human and Translational Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States
Margarita Nieto-Moreno
1   Department of Human and Translational Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States
Roberto Lopez Alberola
2   Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, United States
› Author Affiliations
Further Information

Publication History

11 June 2019

08 August 2019

Publication Date:
23 September 2019 (online)


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.


This case report has not been simultaneously submitted for publication consideration in any other journal. Also, it has not been previously published elsewhere in any other journal or book.

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