Research article summary (published 15 Mar 2009):

Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.

Full Abstract

We report on a male proband with pyridoxine-dependent epilepsy (PDE) and neonatal seizure onset. At the age of 31 months, a prolonged status epilepticus led to severe neurological regression with cortical blindness, loss of speech and muscular hypotonia with slow recovery over the following 3 months. At 33 months of age pyridoxine therapy was initiated with excellent response and the boy remained seizure-free on pyridoxine monotherapy, except for two occasions with seizure recurrence 10 days after accidental pyridoxine withdrawal. alpha-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency was indicated by elevated pipecolic acid concentrations in plasma and alpha-aminoadipic semialdehyde excretion in urine. Molecular analysis of the antiquitin gene revealed a novel missense mutation c.57insA, while the mutation of the other allele remained unidentified so far. Despite the delay in diagnosis and prolonged status epilepticus, neuropsychological evaluations at the ages of 11 and 18 years demonstrated full-scale IQ of 93 and 92, respectively, with better verbal IQ (103 and 101) than performance IQ (85 and 82).

Author information

Author/s: Kluger, G (G); Blank, R (R); Paul, K (K); Paschke, E (E); Jansen, E (E); Jakobs, C (C); Wörle, H (H); Plecko, B (B);

Affiliation: Klinik für Neuropädiatrie und Neurologische Rehabilitation, Epilepsiezentrum für Kinder und Jugendliche, BHZ Vogtareuth, Germany.

Journal and publication information

Publication Type: Journal Article

Journal: Neuropediatrics (Neuropediatrics), published in Germany. (Language: eng)

Reference: 2008-Oct; vol 39 (issue 5) : pp 276-9

Dates: Created 2009/03/18; Completed 2009/05/11;

PMID: 19294602, status: MEDLINE (last retrieval date: 5/11/2009, IMS Date: 11 May 2009 00:00:00)

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adolescent Aldehyde Dehydrogenase - deficiency; genetics Alleles Anticonvulsants - therapeutic use Blindness, Cortical - etiology Child Child, Preschool Diagnosis, Differential Drug Therapy, Combination Electroencephalography - drug effects Follow-Up Studies

Follow-Up Studies Humans Infant Infant, Newborn Intelligence - drug effects Male Mutation, Missense Neuropsychological Tests Pyridoxine - therapeutic use Spasms, Infantile - diagnosis; drug therapy; genetics Status Epilepticus - complications; diagnosis; drug therapy; genetics

Associated Chemicals: Anticonvulsants (0) ; Pyridoxine (65-23-6) ; ALDH7A1 protein, human (EC 1.2.1.3) ; Aldehyde Dehydrogenase (EC 1.2.1.3)

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