Srpski arhiv za celokupno lekarstvo 2011 Volume 139, Issue 11-12, Pages: 795-799
https://doi.org/10.2298/SARH1112795M
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Epilepsy in a child with Wolf-Hirschhorn syndrome
Mitić Vesna (Univerzitetska dečja klinika, Beograd)
Čuturilo Goran (Univerzitetska dečja klinika, Beograd)
Novaković Ivana (Institut za humanu genetiku, Medicinski fakultet, Beograd)
Dimitrijević Nikola (Univerzitetska dečja klinika, Beograd)
Damnjanović Tatjana (Institut za humanu genetiku, Medicinski fakultet, Beograd)
Dimitrijević Aleksandar (Klinika za ginekologiju i akušerstvo „Narodni front”, Beograd)
Dobričić Valerija (Klinika za neurologiju, Klinički centar Srbije, Beograd)
Kostić Vladimir (Klinika za neurologiju, Klinički centar Srbije, Beograd)
Radlović Nedeljko (Univerzitetska dečja klinika, Beograd)
Introduction. Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder
characterized by facial dismorphy, multiple congenital anomalies, delayed
psychomotor development and pharmaco-resistant epilepsy. Case Outline. 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). Conclusion. 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.
Keywords: Wolf-Hirschhorn syndrome, status epilepticus, EEG