1. Severe fetal valproate syndrome: combination of complex cardiac defect, multicystic dysplastic kidney, and trigonocephaly
- Author
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Nilgün Köksal, Hilal Özkan, Senay Yapici, Merih Cetinkaya, Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı., Özkan, Hilal, Çetinkaya, Merih, Köksal, Nilgün, Yapıcı, Şenay, and AAG-8393-2021
- Subjects
Anticonvulsants ,Valproic Acid ,Lamotrigine ,Septum secundum ,Limb defect ,Head circumference ,Respiratory failure ,Camptodactyly ,Severity of Illness Index ,Muscle hypotonia ,Abdominal wall ,Epilepsy ,Teratogenicity ,Artificial ventilation ,Fatal Outcome ,Pregnancy ,Funnel chest ,Trigonocephaly ,Obstetrics & gynecology ,Heart right ventricle hypertrophy ,Aplasia ,Kidney hypoplasia ,Priority journal ,Prenatal drug exposure ,Abnormalities, Drug-Induced ,Obstetrics and Gynecology ,Neonatal respiratory distress syndrome ,Register ,Endotracheal intubation ,Congenital heart malformation ,Absence ,medicine.anatomical_structure ,In utero ,Prenatal Exposure Delayed Effects ,Malformations ,Female ,lipids (amino acids, peptides, and proteins) ,Abnormalities ,Human ,Hydrocephalus ,medicine.drug ,Adult ,Heart Defects, Congenital ,medicine.medical_specialty ,Brain malformation ,Fetus echography ,Fetal valproate syndrome ,Antiepileptic drugs ,Limb Deformities, Congenital ,Multicystic dysplastic kidney ,Cardiomegaly ,Mesocardia ,Article ,Exposure ,Low drug dose ,Craniosynostoses ,Young Adult ,Sodium valproate ,Pulmonary valve stenosis ,Birth weight ,Microphthalmia ,Case report ,medicine ,Humans ,Abnormalities, Multiple ,Multicystic Dysplastic Kidney ,Apgar score ,Ebstein anomaly ,Craniofacial synostosis ,Drug induced disease ,Heart atrium septum defect ,Low set ear ,business.industry ,Genitourinary system ,High arched palate ,Infant, Newborn ,Facies ,Frontal bossing ,Infant ,medicine.disease ,Mouth malformation ,Surgery ,Arachnodactyly ,Body height ,Clinical feature ,Pediatrics, Perinatology and Child Health ,business - Abstract
Valproic acid (VPA) is a teratogenic drug used in pregnant women for the treatment of epilepsy and mood disorders. Fetal valproate syndrome (FVS) is characterized by a number of abnormalities associated with VPA exposure in utero including neural tube defects, congenital heart defects, limb defects, genitourinary defects, brain, eye and respiratory anomalies, and abdominal wall defects. Complex cardiac defect and trigonocephaly have rarely been reported and multicystic dysplastic kidney has never been detected in FVS. We here report a female infant who was born to a mother with a history of low-dose VPA monotherapy (250 mg/day) during pregnancy and who had presented with a combination of unilateral multicystic dysplastic kidney, multicomplex cardiac defect including severe coarctation of aorta, Ebstein anomaly, secundum atrial septal defect, mesocardia along with trigonocephaly due to metopic craniosynostosis, typical facial appearance and limb defects. To our knowledge, this is the first case presented with multicystic dysplastic kidney, complex cardiac defect, trigonocephaly and other limb and facial defects because of exposure to very low-dose VPA monotherapy (250 mg/day) in utero. We conclude that VPA must be used very cautiously in pregnant women even as monotherapy and in low doses to prevent major congenital defects.
- Published
- 2011
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