Epilepsy in a child with Wolf-Hirschhorn syndrome
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, m...
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Serbian Medical Society
2011-01-01
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Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2011/0370-81791112795M.pdf |
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doaj-764a1e78b4f5441785fa7b059c20895d2021-01-02T02:26:55ZengSerbian Medical SocietySrpski Arhiv za Celokupno Lekarstvo0370-81792011-01-0113911-1279579910.2298/SARH1112795MEpilepsy in a child with Wolf-Hirschhorn syndromeRadlović NedeljkoDimitrijević NikolaDobričić ValerijaDimitrijević AleksandarDamnjanović TatjanaKostić VladimirNovaković IvanaČuturilo GoranMitić VesnaIntroduction. 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.http://www.doiserbia.nb.rs/img/doi/0370-8179/2011/0370-81791112795M.pdfWolf-Hirschhorn syndromestatus epilepticusEEG |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Radlović Nedeljko Dimitrijević Nikola Dobričić Valerija Dimitrijević Aleksandar Damnjanović Tatjana Kostić Vladimir Novaković Ivana Čuturilo Goran Mitić Vesna |
spellingShingle |
Radlović Nedeljko Dimitrijević Nikola Dobričić Valerija Dimitrijević Aleksandar Damnjanović Tatjana Kostić Vladimir Novaković Ivana Čuturilo Goran Mitić Vesna Epilepsy in a child with Wolf-Hirschhorn syndrome Srpski Arhiv za Celokupno Lekarstvo Wolf-Hirschhorn syndrome status epilepticus EEG |
author_facet |
Radlović Nedeljko Dimitrijević Nikola Dobričić Valerija Dimitrijević Aleksandar Damnjanović Tatjana Kostić Vladimir Novaković Ivana Čuturilo Goran Mitić Vesna |
author_sort |
Radlović Nedeljko |
title |
Epilepsy in a child with Wolf-Hirschhorn syndrome |
title_short |
Epilepsy in a child with Wolf-Hirschhorn syndrome |
title_full |
Epilepsy in a child with Wolf-Hirschhorn syndrome |
title_fullStr |
Epilepsy in a child with Wolf-Hirschhorn syndrome |
title_full_unstemmed |
Epilepsy in a child with Wolf-Hirschhorn syndrome |
title_sort |
epilepsy in a child with wolf-hirschhorn syndrome |
publisher |
Serbian Medical Society |
series |
Srpski Arhiv za Celokupno Lekarstvo |
issn |
0370-8179 |
publishDate |
2011-01-01 |
description |
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. |
topic |
Wolf-Hirschhorn syndrome status epilepticus EEG |
url |
http://www.doiserbia.nb.rs/img/doi/0370-8179/2011/0370-81791112795M.pdf |
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