Recurrent febrile seizures led to the diagnosis of 22q11.2 deletion syndrome in a 12-year-old boy

Abstract

Although 22q11.2 deletion syndrome (22q11.2DS) is one of the most common chromosomal syndromes, there are only a few previous reports linking recurrent febrile seizures and 22q11.2DS. Here, we present the case of a 12-year-old boy in whom 22q11.2DS was first diagnosed at the on-set of genetic epilepsy febrile seizures plus. The patient presented with more than 10 recurrent febrile seizures since the age of 8 months. From the age of 11 years, he experienced recurrent afebrile generalized tonic-clonic seizures. He was diagnosed with 22q11.2DS for the first time at the age of 12 years. The recognition of hypocalcemia as well as atypical but characteristic facial features and symptoms such as congenital heart disease and mild developmental retardation led to the diagnosis of the syndrome. When examining children with a history of recurrent febrile seizures, 22q11.2DS should be considered as an underlying disease.