Opis przypadku: Wczesna lekooporną epilepsja u noworodka z zaburzeniami funkcji przewodu pokarmowego spowodowana zmianą genetyczną i mikrodeleją na chromosomie 16p13.11
Case Report: Early infantile drug-resistant epilepsy and gastrointestinal dysmotility associated with a variant and a 16p13.11 microdeletion
W skrócie
W przypadku dotyczy jednomiesięcznego niemowlęcia, u którego wykryto dwie zmiany genetyczne: zmianę w genie i brakującą część chromosomu 16p13.11. Dziecko miało objawy zaburzeń przewodu pokarmowego, a następnie padaczkę oporną na leki, która przebiegała z silnymi skurczami mięśniowymi. Badania genetyczne wykazały, że obie zmienne genetyczne razem przyczyniają się do objawów choroby.
Oryginalny abstract (angielski)
BACKGROUND: The gene is located on the long arm of chromosome 16 (16q13) and is associated with Developmental and Epileptic Encephalopathy 17. It encodes a protein involved in regulating various neurotransmitters and neuronal growth and development. The 16p13.11 microdeletion is a genomic deletion in the p13.11 region of the short arm of chromosome 16, previously reported to predispose individuals to neurodevelopmental disorders. These two regions do not overlap on the chromosome, and the 16p13.11 microdeletion does not involve the gene locus. CASE PRESENTATION: We reports a 1-month-old infant presenting with concurrent gene variation and a 16p13.11 microdeletion. The patient initially presented with recurrent abdominal distension in the neonatal period, which gradually progressed to include focal seizures and intractable epileptic spasms. Interictal EEG showed multifocal discharges and burst-suppression patterns. Brain MRI revealed no abnormalities. A full gastrointestinal series suggested intestinal obstruction and gastro-esophageal reflux. Improved whole-exome sequencing identified: 1) A single nucleotide variantion: . 2) A copy number variation: A pathogenic 1.453 Mb deletion in the 16p13.11 region. CONCLUSIONS: We describe the developmental trajectory of an infant with overlapping features of gastrointestinal symptoms and drug-resistant epilepsy, carrying a variant and a 16p13.11 microdeletion. This case provides insights into the contribution of both single nucleotide variant and copy number variant to the phenotype.