A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy.
Wolf-Hirschhorn syndrome is defined by a collection of core characteristics that include mental retardation, epilepsy, growth delay, and craniofacial dysgenesis. The disorder is caused by subtelomeric deletions in the short arm of chromosome 4. The syndrome, as described in the literature, may have a progression to resistant seizures and status epilepticus, which may then exhibit specific electroencephalographic findings. This study investigates a 3-year-old girl presenting with the classic phenotype for Wolf-Hirschhorn syndrome, confirmed by fluorescence in situ hybridization. Here we describe and discuss this patient, who initially presented with myoclonic seizures but then had a progression toward resistant epilepsy, along with electroencephalographic findings specific to Wolf-Hirschhorn syndrome.
Division of Pediatric Neurology, Behçet Uz Child Disease and Pediatric Surgery Research and Educational Hospital, and Department of Pediatrics, School of Medicine, Dokuz Eylul University, Izmir, Turkey. aycanunalp@mynet.com
Aycan
A
Unalp
Nedret
N
Uran
Ozlem
O
Giray
Derya
D
Ercal
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D000927:Anticonvulsants / Q000627:therapeutic use; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D018450:Disease Progression; D004351:Drug Resistance; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D010641:Phenotype; D013226:Status Epilepticus / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D013577:Syndrome
D000927:Anticonvulsants