Pyridoxine-Dependent Seizures Associated with White Matter Abnormalities

Jardim, Laura Bannach; Pires, Ricardo Flores; Martins, Carvalho; Vargas, Carmen Regla; Vizioli, J.; Kliemann, F. A. D.; Giugliani, Roberto

doi:10.1055/s-2008-1073032

Cited by 28 publications

(13 citation statements)

References 1 publication

(1 reference statement)

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“…Current therapy with pyridoxine alone provides seizure control but is insufficient for optimal developmental outcome in many patients, even with extremely high doses and prenatal treatment. [19][20][21][22][23] Despite combined cofactor therapy, Patients 1 and 2 have developmental delay, and the impact of combined treatment must be determined. In addition, rather than separate, sequential testing with pyridoxine and folinic acid, 1 we recommend an intravenous dose of 100mg pyridoxine, followed by pyridoxine 30mg/kg/day for 3 to 7 days, optionally combined with folinic acid, 3 to 5mg/kg/day, to assess clinical responsiveness.…”

Section: Discussionmentioning

confidence: 99%

Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy

Gallagher

Hove

Scharer

et al. 2009

Annals of Neurology

164

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These results demonstrate that folinic acid-responsive seizures are due to alpha-AASA dehydrogenase deficiency and mutations in the ALDH7A1 gene. Thus, folinic acid-responsive seizures are identical to the major form of pyridoxine-dependent epilepsy. We recommend consideration of treatment with both pyridoxine and folinic acid for patients with alpha-AASA dehydrogenase deficiency, and consideration of a lysine restricted diet. The evaluation of patients with neonatal epileptic encephalopathy, as well as those with later-onset seizures, should include a measurement of alpha-AASA in urine to identify this likely underdiagnosed and treatable disorder.

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Section: Discussionmentioning

confidence: 99%

Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy

Gallagher

Hove

Scharer

et al. 2009

Annals of Neurology

164

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“…8 11 The clinical spectrum, including typical and atypical presentations, suggests a heterogenous disorder.…”

Section: Discussionmentioning

confidence: 99%

“…Many familial cases are reported with consanguineous parents 78 11 12 It is probably due to altered binding of PLP to cerebral GAD, leading to a defect in brain GABA production 30. Indeed, the GABA concentration is decreased in the brain13 and cerebrospinal fluid of affected patients,21 31 and increases in the cerebrospinal fluid after pyridoxine administration 32.…”

Section: Discussionmentioning

confidence: 99%

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern

Nabbout

Soufflet

Plouin

et al. 1999

Archives of Disease in Childhood - Fetal and Neonatal Edition

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Aims-To determine if there is an electroencephalographic pattern suggestive of pyridoxine dependent epilepsy that could be used to improve the chances of early diagnosis. Methods-A retrospective study was made of all the clinical records and electroencephalograms of neonates identified with pyridoxine dependent seizures between 1983 and 1994, at this hospital. Neonates whose seizures began after more than 28 days of life were excluded; in all, five patients from four families were studied. Follow up ranged from 2 to 10 years. Results-A history of miscarriage and neonatal death during an epileptic seizure had occurred in the siblings of two families. One mother reported rhythmic movements of her child during the last month of pregnancy. At birth, all babies were hypotonic; four had decreased visual alertness. All babies were agitated, irritable, jittery, hyperalert, and exhibited sleeplessness and a startle reaction to touch and sound. Age of onset of seizures varied from 30 minutes to 3 days. Seizures of various types were recorded in all cases on EEG tracings, including spasms, myoclonic seizures, partial clonic, and secondary generalised seizures. Burstsuppression patterns occurred in three cases, and a combination of continuous and discontinuous patterns in two others. Bilateral high voltage delta slow wave activity was observed in four patients. Psychomotor delay was severe in three patients, moderate in one, and mild in one. Conclusions-There is an identifiable EEG pattern that is highly suggestive of pyridoxine dependent epilepsy. Pyridoxine dependent epilepsy is probably underdiagnosed. (Arch Dis Child Fetal Neonatal Ed 1999;81:F125-F129)

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“…Not only is PDS characterised by seizures but also by encephalopathic symptoms such as agitation, jitteriness, irritability, startle reactions and feeding problems [16]. Reports on cerebral imaging have shown cerebral haemorrhage, non-specific white matter abnormalities, hydrocephalus, hypoplasia of the posterior part of the corpus callosum, cerebellar hypoplasia and a megacisterna magna [5,15,19,33]. At older age, cortical atrophy with ventricular dilation is sometimes observed in affected patients [5,15,34].…”

Section: Introductionmentioning

confidence: 99%

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures

et al. 2009

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Incidental reports suggest that antenatal treatment of pyridoxine dependent seizures (PDS) may improve neurodevelopmental outcome of affected patients. Two families with PDS are reported, both with two affected siblings. Antenatal treatment with pyridoxine was instituted during the second pregnancy in each family (50 and 60 mg daily from 3 and 10 weeks of gestation, respectively). Perinatal characteristics and neurodevelopmental outcome at 4 (Family A) and 12 (Family B) years of age were compared between the untreated and treated child within each family. Meconium-stained amniotic fluid was present in both first pregnancies and abnormal foetal movements were noticed in one. In the treated infants, pregnancy and birth were uncomplicated. In family A, postnatal pyridoxine supplementation prevented neonatal seizures. Both children in family A were hypotonic and started walking after 2 years of age; both had white matter changes on MRI, and the first child was treated for squint. IQ was 73 and 98 in the antenatally untreated and treated child, respectively. The second child in family B developed seizures on the seventh day, because pyridoxine maintenance therapy had not been instituted after birth. Seizures responded rapidly to pyridoxine supplementation. MRI showed large ventricles and a mega cisterna magna. IQ was 80 and 106 in the antenatally untreated and treated child respectively. Both children had normal motor development. These results suggest that antenatal pyridoxine supplementation may be effective in preventing intrauterine seizures, decreasing the risk of complicated birth and improving neurodevelopmental outcome in PDS.

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Pyridoxine-Dependent Seizures Associated with White Matter Abnormalities

Cited by 28 publications

References 1 publication

Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy

Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures

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