CASE REPORT
Epilepsy in a girl with features of CHARGE syndrome – case report and literature review
1
Student Research Group / Department of Paediatric Neurology, Medical University, Lublin, Poland
2
Department of Pediatric Neurology, University Children’s Hospital in Lublin, Medical University, Lublin, Poland
Corresponding author
Natalia Biedroń
The Student Research Group at the Department of Pediatric Neurology, Medical University of Lublin, Poland
The Student Research Group at the Department of Pediatric Neurology, Medical University of Lublin, Poland
KEYWORDS
TOPICS
ABSTRACT
Introduction:
CHARGE syndrome represents a rare, genetically determined association of birth defects.* The diagnosis of the syndrome is based on the finding of typical clinical symptoms and the detection of mutations in the CHD7 gene.
Case Report:
The case of a 13-year-old girl with features of CHARGE syndrome is presented. After birth, the girl was found to have defects that suggested CHARGE syndrome. However, the mutation was not confirmed in the genetic test performed. Despite the presence of all the large CHARGE syndrome criteria in the patient, due to the absence of a genetic mutation, it was not possible to make a complete diagnosis. In addition, the girl had congenital epilepsy, which can occur in CHARGE syndrome but is not characteristic. The onset of epilepsy may also have been independent
Conclusions:
With the discovery of missense de novo variants in WDR37, for which epilepsy and other CHARGE-like symptoms are present, perhaps the final diagnosis of the syndrome in the patient described could have been different
CHARGE syndrome represents a rare, genetically determined association of birth defects.* The diagnosis of the syndrome is based on the finding of typical clinical symptoms and the detection of mutations in the CHD7 gene.
Case Report:
The case of a 13-year-old girl with features of CHARGE syndrome is presented. After birth, the girl was found to have defects that suggested CHARGE syndrome. However, the mutation was not confirmed in the genetic test performed. Despite the presence of all the large CHARGE syndrome criteria in the patient, due to the absence of a genetic mutation, it was not possible to make a complete diagnosis. In addition, the girl had congenital epilepsy, which can occur in CHARGE syndrome but is not characteristic. The onset of epilepsy may also have been independent
Conclusions:
With the discovery of missense de novo variants in WDR37, for which epilepsy and other CHARGE-like symptoms are present, perhaps the final diagnosis of the syndrome in the patient described could have been different
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