Rare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

Autor: Mok KM; University of Maryland School of Medicine, Baltimore, Maryland., Carpenter JL; Departments of Pediatrics and Neurology, Division of Pediatric Neurology, University of Maryland School of Medicine, Baltimore, Maryland., Herrada P; Department of Pediatrics, Division of Genetics, University of Maryland School of Medicine, Baltimore, Maryland., Greene C; Department of Pediatrics, Division of Genetics, University of Maryland School of Medicine, Baltimore, Maryland., Yazbek S; Department of Radiology, University of Maryland School of Medicine, Baltimore, Maryland., Erdemir G; Department of Pediatrics and Neurology, Pennsylvania State University College of Medicine, Hershey, Pennsylvania. Electronic address: gerdemir@pennstatehealth.psu.edu.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2024 Dec; Vol. 161, pp. 185-187. Date of Electronic Publication: 2024 Sep 21.
DOI: 10.1016/j.pediatrneurol.2024.09.016
Abstrakt: Background: This report describes a pediatric case of megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome, a rare neurodevelopmental disorder caused by pathogenic variants in the AKT3, CCND2, or PIK3R2 genes. We present a patient with a rare CCND2 variant (c.839C>T, p.Thr280Ile), associated with infantile spasms, ventriculomegaly, polymicrogyria, and intraventricular hemorrhage (IVH).
Methods: A retrospective chart review and literature search were performed using PubMed.
Results: Our patient was found to have ventriculomegaly, grade 3 IVH, bilateral polymicrogyria, and restricted diffusion in the caudate nuclei prenatally. No polydactyly was observed. The patient developed infantile spasms at age 5 months. While high-dose prednisone treatment failed to control the spasms, they resolved with topiramate. By age 2 years, the patient continued to have significant developmental delays, including having poor tone and being nonverbal.
Conclusion: MPPH syndrome remains a rare and challenging diagnosis, with fewer than 100 cases reported. This case highlights the importance of early genetic testing and neuroimaging in the diagnosis and management of MPPH. The unique presentation of IVH and restricted diffusion warrants further investigation into the syndrome's variable phenotypic spectrum. Early intervention and targeted therapy may help manage seizure activity and improve outcomes.
Competing Interests: Declaration of Competing Interest The authors declare that they do not have any conflict of interest.
(Copyright © 2024 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE