Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene encoding α-aminoadipic semialdehyde dehydrogenase. The classic clinical presentation is neonatal seizures responsive only to pyridoxine therapy. White matter abnormalities, corpus callosum agenesis or hypoplasia, megacisterna magna, cortical dysplasia, neuronal heterotopias, intracerebral hemorrhage, and hydrocephalus in neuroimaging have been reported in patients with PDE. We report a new patient with asymmetric progressive ventriculomegaly noted on fetal sonography at 22 weeks’ gestation. Postnatal brain sonography on day 1 and MRI on day 5 confirmed bilateral asymmetric ventriculomegaly caused by bilateral subependymal cysts. Intractable seizures at age 7 days initially responded to phenobarbital. Markedly elevated urinary α-aminoadipic acid semialdehyde levels and compound heterozygous mutations in the ALDH7A1 gene (c.446C>A/c.919C>T) confirmed the diagnosis of PDE caused by ALDH7A1 genetic defect. Despite the presence of structural brain malformations and subependymal cysts, PDE should always be included in the differential diagnosis of neonatal seizures that are refractory to treatment with antiepileptic drugs.
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April 2014
Case Report|
April 01 2014
Fetal Onset Ventriculomegaly and Subependymal Cysts in a Pyridoxine Dependent Epilepsy Patient
Shailly Jain-Ghai, MD;
Shailly Jain-Ghai, MD
aDepartment of Medical Genetics, University of Alberta, Stollery Children’s Hospital, Edmonton, Canada; and
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Navin Mishra, MD;
Navin Mishra, MD
Divisions of bNeurology and
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Cecil Hahn, MD;
Cecil Hahn, MD
Divisions of bNeurology and
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Susan Blaser, MD;
Susan Blaser, MD
cDivision of Neuroradiology, and
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Saadet Mercimek-Mahmutoglu, MD
dClinical and Metabolic Genetics, Department of Pediatrics,
eGenetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada
Address correspondence to Saadet Mercimek-Mahmutoglu, MD, FCCMG, The Hospital for Sick Children, Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, 525 University Ave, Suite 935, 9th Floor, Toronto, ON, M5G 1X8, Canada. E-mail: saadet.mahmutoglu@sickkids.ca
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Address correspondence to Saadet Mercimek-Mahmutoglu, MD, FCCMG, The Hospital for Sick Children, Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, 525 University Ave, Suite 935, 9th Floor, Toronto, ON, M5G 1X8, Canada. E-mail: saadet.mahmutoglu@sickkids.ca
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
Pediatrics (2014) 133 (4): e1092–e1096.
Article history
Accepted:
October 10 2013
Citation
Shailly Jain-Ghai, Navin Mishra, Cecil Hahn, Susan Blaser, Saadet Mercimek-Mahmutoglu; Fetal Onset Ventriculomegaly and Subependymal Cysts in a Pyridoxine Dependent Epilepsy Patient. Pediatrics April 2014; 133 (4): e1092–e1096. 10.1542/peds.2013-1230
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