title: A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders.
abstract: Wolf-Hirschhorn syndrome (WHS) is a genetic disorder caused by a deletion of the short arm of chromosome 4. Sgrò et al. described an electroclinical profile for WHS, but data regarding this issue are scarce. We report an 8-year-old girl presenting the classic phenotype for WHS, confirmed by FISH test. Epilepsy started during infancy with myoclonic seizures. Later, she presented atypical absences, which gradually increased in frequency, and at the age of 2.5 years, she presented a non-convulsive status epilepticus. Epilepsy was controlled with valproate at the age of 6 years. Serial EEGs were performed and showed unusual bursts of generalized, high amplitude delta waves with superimposed low-moderate amplitude sharp waves. A literature review was performed and our case was compared to others, where EEG and/or epilepsy were addressed. Our case and previously published data show that WHS presents a stereotyped epilepsy profile and EEG patterns. A discussion concerning similarities between these findings and those observed in Angelman syndrome has been performed, since in both syndromes, GABA genes are involved and may play a role in the pathogenesis. Although fascinating, this theory is simplistic, since patients with Angelman syndrome without GABA deletion may present epilepsy and EEG abnormalities. Another issue is the striking overlap regarding these features, between WHS and Pitt-Rogers-Danks syndrome, which may be a key in showing that these disorders could be a spectral variation of the same entity.
authors.affiliation: Laboratory of Clinical Neurophysiology, Institute and Department of Psychiatry, University of São Paulo Medical School, São Paulo, Brazil. kettevalente@msn.com
authors.forename: Kette D
authors.initials: KD
authors.lastname: Valente
authors.forename: Alessandra
authors.initials: A
authors.lastname: Freitas
authors.forename: Lia A
authors.initials: LA
authors.lastname: Fiore
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
mesh_terms: D017204:Angelman Syndrome / Q000503:physiopathology; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications* / Q000503:physiopathology; D002894:Chromosomes, Human, Pair 4; D018450:Disease Progression; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications / Q000209:etiology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000503:physiopathology; D013226:Status Epilepticus / Q000209:etiology* / Q000503:physiopathology; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D014635:Valproic Acid