Epilepsy in a child with Wolf-Hirschhorn syndrome.

[wolf-hirschhorn syndrome]

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 (4 p 16 ).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 .

Diseases
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Diseases presenting "distal part of the short arm" symptom

wolf-hirschhorn syndrome

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