22q11 deletion syndrome: an-expanding phenotype

Introduction. Chromosome 22q11 deletion syndrome is a syndromic complex which includes several manifestations such as cardiac defects, immunodeficiency, cleft palate and facial dysmorphic features. It is also associated with developmental delay and other neuropsychiatric symptoms. Epilepsy is an uncommon manifestation. Case report. A 15 year old female patient with a history of developmental delay and learning difficulties. She began with generalized and partial complex epileptic seizures of unknown etiology in the absence of other known risk factors for seizures. Brain magnetic resonance imaging and electroencephalographic recording were normal. Neuropsychiatric history, phenotype with nasal voice and dysmorphic features justified the study of the 22q11 deletion that was diagnostic. Conclusions. 22q11 deletion is one of the most common microdeletion chromosomal syndromes. In recent years more atypical cases are being diagnosed due to a better knowledge of the syndrome and the availability of the fluorescence in situ hybridization test. These cases are conferring a wider phenotypical spectrum to the syndrome. Therefore, increasing awareness of the expression of this syndrome by different specialists is essential. Clinical features such as facial dysmorphism or nasal speech in atypical cases are important diagnostic clues.