TY - JOUR
T1 - Epilepsy in a child with Wolf-Hirschhorn syndrome.
AU - Mitić, Vesna
AU - Cuturilo, Goran
AU - Novaković, Ivana
AU - Dimitrijević, Nikola
AU - Damnjanović, Tatjana
AU - Dimitrijević, Aleksandar
AU - Dobricić, Valerija
AU - Kostić, Vladimir
AU - Radlović, Nedeljko
PY - 2011
Y1 - 2011
N2 - Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder characterized by facial dismorphy, multiple congenital anomalies, delayed psychomotor development and pharmaco-resistant epilepsy. 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). 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.
AB - Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder characterized by facial dismorphy, multiple congenital anomalies, delayed psychomotor development and pharmaco-resistant epilepsy. 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). 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.
UR - http://www.scopus.com/inward/record.url?scp=84858408240&partnerID=8YFLogxK
U2 - 10.2298/SARH1112795M
DO - 10.2298/SARH1112795M
M3 - Journal articles
C2 - 22338478
AN - SCOPUS:84858408240
SN - 0370-8179
VL - 139
SP - 795
EP - 799
JO - Srpski arhiv za celokupno lekarstvo
JF - Srpski arhiv za celokupno lekarstvo
IS - 11-12
ER -