Abstract
Adams-Oliver syndrome (AOS) is characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb malformations of variable severity. When neurological findings are present, patients are reported as AOS variants. We describe a child with compound heterozygosity of the DOCK6 gene, aplasia cutis, terminal transverse limb defects, cardiovascular impairment, intellectual disability, and brain malformations with intracranial calcifications. He suffers from a severe refractory epileptic encephalopathy characterized by polymorphic seizures with prolonged periods of electroencephalogram (EEG), continuous epileptiform activity related to clinical inactivity, and closure of eyes with an ON-OFF behavior.
| Original language | English |
|---|---|
| Pages (from-to) | 217-221 |
| Number of pages | 5 |
| Journal | Neuropediatrics |
| Volume | 49 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Jun 1 2018 |
Keywords
- Adams-Oliver syndrome
- AOS-variants
- atypical absences
- DOCK6
- epileptic encephalopathy
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology
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Cite this
Pisciotta, L., Capra, V., Accogli, A., Giacomini, T., Prato, G., Tavares, P., Pinto-Basto, J., Morana, G., & Mancardi, M. M. (2018). Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. Neuropediatrics, 49(3), 217-221. https://doi.org/10.1055/s-0038-1639372