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Mowat‐Wilson syndrome presenting with fever‐associated seizures
Author(s) -
Seo Se Eun,
Kim Se Hee,
Lee Seung Tae,
Choi Jong Rak,
Lee Joon Soo,
Kim Heung Dong,
Kang HoonChul
Publication year - 2017
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2017.0949
Subject(s) - frameshift mutation , ciliopathy , epilepsy , nonsense , nonsense mutation , medicine , mutation , differential diagnosis , hypothalamic hamartoma , pediatrics , genetics , pathology , biology , gene , psychiatry , phenotype , precocious puberty , hormone , missense mutation
Mowat‐Wilson syndrome (MWS) is a disorder caused by mutations or deletions of the zinc finger E‐box‐binding homeobox 2 ( ZEB2 ) gene. Diagnosis of MWS can be challenging to neurologists, because its manifestations are diverse and the spectrum of genetic mutations are broad. Here, we describe two patients with MWS who initially showed atypical forms of fever‐triggered seizures during childhood. Both had characteristic facial features, cognitive impairment, and genito‐urinary anomalies consistent with MWS. By performing targeted next‐generation sequencing (NGS) using a gene panel for epilepsy, we were able to identify a nonsense mutation (c.1965C>A) in the ZEB2 gene of one patient and a frameshift mutation (c.2348dupC) in the other patient. Fever‐induced seizures can be presenting signs of MWS. MWS should be considered in the differential diagnosis of fever‐induced seizures, especially when the patient has distinctive facial features and multiple anomalies, including cardiac, genito‐urinary, and eye defects.