Epilepsy in Turnpenny-Fry Syndrome: A Case Report

TL;DR

A new case of Turnpenny-Fry syndrome with epilepsy is reported, highlighting the need for further study of this rare genetic disorder.

Contribution

This paper adds a new case of TPFS with epilepsy, expanding the known clinical features of the syndrome.

Findings

Only two of 15 reported TPFS cases had confirmed seizure history, but a new case with epilepsy is presented.

The paper emphasizes the importance of genetic testing for diagnosing TPFS and understanding its developmental abnormalities.

Abstract

Turnpenny-Fry syndrome (TPFS) is caused by a heterozygous mutation in the PCGF2 gene on chromosome 17q12. A total of 15 cases have been reported to date. Of these, only two cases of TPFS have included a confirmed history of seizures. We report a new case of TPFS with epilepsy, which suggests that further studies of this rare disease are needed to fully understand the extent of developmental abnormalities associated with such genetic syndromes. This paper summarizes the clinical features to be aware of and the diagnostic genetic testing that can lead to the appropriate diagnosis, thereby contributing to the existing literature on this rare condition.

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