title: Epilepsy in a child with Wolf-Hirschhorn syndrome.
abstract: BACKGROUND
  Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder characterized by facial dismorphy, multiple congenital anomalies, delayed psychomotor development and pharmaco-resistant epilepsy.
  
  
  METHODS
  We present a 5-year-old girl with severe delay in growth and development, microcephaly, mild facial dismorphy and epilepsy. The pregnancy was complicated by intrauterine growth retardation. Generalized muscle hypotonia was observed at birth. First seizures started at age of 9 months as unilateral convulsive status epilepticus (SE), sometimes with bilateral generalization. Seizures were often triggered by fever and were resistant to antiepileptic treatment. Introduction of lamotrigine and valproate therapy led to complete seizure control at the age of 33 months. Electroencephalographic (EEG) finding was typical at the beginning. After transitory improvement between age four and five years, epileptiform EEG activity appeared again at the age of five years, without observed clinical seizures. Magnetic resonance imaging showed diffuse brain atrophy and delay in myelination. Using Multiplex ligation-dependent probe amplification (MLPA) method, we disclosed heterozygote microdeletation of the distal part of the short arm of chromosome 4 (4p16).
  
  
  CONCLUSIONS
  We present a clinical course of epilepsy in a patient with Wolf-Hirschhorn syndrome. The diagnosis was verified by modern molecular technique. This is the first molecular characterization of a patient with WHS performed in our country.
authors.affiliation: University Children's Hospital, Belgrade, Serbia. vmitic@verat.net
authors.forename: Vesna
authors.initials: V
authors.lastname: Mitić
authors.forename: Goran
authors.initials: G
authors.lastname: Cuturilo
authors.forename: Ivana
authors.initials: I
authors.lastname: Novaković
authors.forename: Nikola
authors.initials: N
authors.lastname: Dimitrijević
authors.forename: Tatjana
authors.initials: T
authors.lastname: Damnjanović
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Dimitrijević
authors.forename: Valerija
authors.initials: V
authors.lastname: Dobricić
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostić
authors.forename: Nedeljko
authors.initials: N
authors.lastname: Radlović
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D054877:Wolf-Hirschhorn Syndrome / Q000150:complications*