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Embryopathy due to valproic acid with severe malformations in the central nervous system

J.M. Pardal-Fernández, M.C. Carrascosa-Romero, M. Rodríguez-Vázquez, J. Marco-Giner, A. Martínez-Gutiérrez [REV NEUROL 2006;42:336-340] PMID: 16575769 DOI: https://doi.org/10.33588/rn.4206.2005349

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Volumen 42 | Number 06 | Nº of views of the article 15.925 | Nº of PDF downloads 990 | Article publication date 16/03/2006

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ABSTRACT

INTRODUCTION Embryogenetic disorders are one of the most serious problems in the life of an epileptic. Over the last few decades many antiepileptic drugs, including valproic acid, have been shown to have teratogenic properties. Embryopathy due to valproate, also known as fetal valproate syndrome, is a well-known and documented example of these conditions.

CASE REPORT We report the case of a preterm newborn infant who, at birth, exhibited a syndrome characterised by facial dysmorphia, gingival hyperplasia, neurological hyperexcitability and multiple malformations, the most striking of which was the presence of predominantly temporal atrophy in the left brain hemisphere. The most significant event in the medical history of the case was the mother’s taking valproate in monotherapy throughout the entire period of gestation as treatment for generalised idiopathic epilepsy that was diagnosed during adolescence. Screening precluded the most common metabolic, hereditary or infectious causes that can cause embryopathies.

CONCLUSIONS The mother’s history of taking valproic acid and the specific findings that coincided in the peculiar embryopathy of this patient enabled us to link them. KeywordsBrain malformation Embryopathy Fetal valproate syndrome Gingival hyperplasia Malformations Valproate Valproate embryopathy Valproic acid

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Nota Clínica

Embryopathy due to valproic acid with severe malformations in the central nervous system