Fragile X Syndrome and Periventricular Heterotopias: A Rare Association

Abstract

Fragile X syndrome (FXS) is the most common hereditary cause of intellectual disability in males, with an estimated prevalence of 1:4000. Epilepsy occurs in 10 to 20% of males with FXS and usually has a favorable prognosis and positive response to antiepileptic medication. Numerous anomalies in the central nervous system have been reported in FXS. Among these, periventricular heterotopia (PH) has been reported in two previous cases. Epilepsy is also a common comorbidity in PH, but in contrast to epilepsy in FXS, the severity may vary markedly. We present a boy with FXS, PH, and epilepsy—a combination not previously reported in the literature. The presented case suggests a necessity to consider PH in cases of refractory epilepsy or status epilepticus in patients with FXS, emphasizes the importance of ruling out FXS in children with intellectual disability even if there are only discreet or no clinical signs of the disorder, and underscores that FXS should be considered in patients with PH if no other cause can be found.

Keywords

fragile X syndrome - periventricular heterotopias - epilepsy

Note

All examinations undertaken in this study were performed on clinical indication. No examinations were performed for research purposes, including genetic analysis of the patient and the patient's brother. The Central Denmark Region Committees on Health Research Ethics was consulted, and the conduct of this report was considered in accordance with Danish law. Therefore, the study could be conducted without further approval from the committees. Both parents provided written consent for the collection and publishing of the clinical findings in this study.

Authors' Contributions

Both authors participated in the idea, planning, and writing of the article, and read and approved the final version of the case report.

Publication History

Received: 28 July 2020

Accepted: 09 October 2020

Article published online:
19 November 2020

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