Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and...

The 15q11.2 microdeletion syndrome, also known as Burnside-Butler syndrome (BBS), is a rare genetic disorder involving a deletion in the breakpoint 1 to breakpoint 2 (BP1-BP2) on the long arm of chromosome 15, often associated with growth retardation and delayed speech development. In contrast, rare manifestations consist of dysmorphic traits, seizures, and neurodevelopmental or psychiatric conditions such as epilepsy, autism spectrum disorder (ASD), and schizophrenia. The BP1-BP2 region contains genes critical for brain development and function, including non-imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), non-imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), cytoplasmic FMR1 interacting protein 1 (CYFIP1), and tubulin gamma complex associated protein 5 (TUBGCP5), which have been linked to conditions such as attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and epilepsy. Prenatal tests and karyotype lead to unclear results, but the current chromosomal microarray analysis (CMA) provides an accurate diagnosis of BBS. Treatment for these individuals is personalized and typically involves a multidisciplinary approach. We present the case of a six-year-old male patient with 15q11.2 microdeletion syndrome and a complex neurological and developmental profile, including developmental delay and ASD. We highlight the rare combination of early-onset refractory epilepsy, schizencephaly, and cystic fibrosis transmembrane conductance regulator (CFTR) variant carrier status, which adds to the uniqueness of the case. This article contributes to expanding the clinical spectrum of 15q11.2 microdeletion syndrome. It underscores the importance of genetic testing in children with complex neurodevelopmental symptoms, as the clinical presentation of this syndrome is often subtle or nonspecific, making early diagnosis and genetic counseling challenging but essential for guiding appropriate interventions.