Dataset Information

Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK.

ABSTRACT:

Objective

To study the epidemiology of pyridoxine dependent seizures and other forms of pyridoxine responsive seizures.

Design

Monthly notifications to the British Paediatric Surveillance Unit over two years. Questionnaire follow up.

Setting

UK and the Republic of Ireland.

Patients

Children aged 15 years or younger whose seizures respond to pyridoxine.

Interventions

None.

Main outcome measures

Numbers of children with definite, probable, and possible pyridoxine dependent seizures or other seizures responsive to pyridoxine.

Results

Point prevalence and birth incidence: 1/687 000 and 1/783 000, respectively (definite and probable cases); 1/317 000 and 1/157 000, respectively (all types of pyridoxine responsiveness). NOTIFICATIONS: Pyridoxine dependency: 14 definite, 9 probable, and 10 possible cases; neonatal seizures not meeting case definitions: 7; infantile spasms: 5. Eight of 18 families of definite/probable cases had 2 affected siblings. Just over a third had atypical presentations and just under a third had features and/or initial diagnoses of birth asphyxia and neonatal hypoxic ischaemic encephalopathy.

Conclusions

Pyridoxine dependency is rare. Atypical presentations are relatively frequent. A trial of pyridoxine is justified in all cases of early onset intractable seizures or status epilepticus, whatever the suspected cause.

SUBMITTER: Baxter P

PROVIDER: S-EPMC1718118 | biostudies-literature | 1999 Nov

REPOSITORIES: biostudies-literature

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Publications

Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK.

Baxter P P

Archives of disease in childhood 19991101 5

<h4>Objective</h4>To study the epidemiology of pyridoxine dependent seizures and other forms of pyridoxine responsive seizures.<h4>Design</h4>Monthly notifications to the British Paediatric Surveillance Unit over two years. Questionnaire follow up.<h4>Setting</h4>UK and the Republic of Ireland.<h4>Patients</h4>Children aged 15 years or younger whose seizures respond to pyridoxine.<h4>Interventions</h4>None.<h4>Main outcome measures</h4>Numbers of children with definite, probable, and possible py ...[more]

PMID: 10519720

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Project description:Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate. However, whilst this is a highly treatable disorder, there is general uncertainty about when to consider this diagnosis and how to test for it. This study aimed to evaluate the use of measurement of urine L-alpha-aminoadipic semialdehyde/creatinine ratio and mutation analysis of ALDH7A1 (antiquitin) in investigation of patients with suspected or clinically proven pyridoxine-dependent epilepsy and to characterize further the phenotypic spectrum of antiquitin deficiency. Urinary L-alpha-aminoadipic semialdehyde concentration was determined by liquid chromatography tandem mass spectrometry. When this was above the normal range, DNA sequencing of the ALDH7A1 gene was performed. Clinicians were asked to complete questionnaires on clinical, biochemical, magnetic resonance imaging and electroencephalography features of patients. The clinical spectrum of antiquitin deficiency extended from ventriculomegaly detected on foetal ultrasound, through abnormal foetal movements and a multisystem neonatal disorder, to the onset of seizures and autistic features after the first year of life. Our relatively large series suggested that clinical diagnosis of pyridoxine dependent epilepsy can be challenging because: (i) there may be some response to antiepileptic drugs; (ii) in infants with multisystem pathology, the response to pyridoxine may not be instant and obvious; and (iii) structural brain abnormalities may co-exist and be considered sufficient cause of epilepsy, whereas the fits may be a consequence of antiquitin deficiency and are then responsive to pyridoxine. These findings support the use of biochemical and DNA tests for antiquitin deficiency and a clinical trial of pyridoxine in infants and children with epilepsy across a broad range of clinical scenarios.

Dataset Information

Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK.

Objective

Design

Setting

Patients

Interventions

Main outcome measures

Results

Conclusions

Publications

Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK.

Similar Datasets

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