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.