Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Kluger, G; Blank, R; Paul, K; Paschke, E; Jansen, E; Jakobs, C; Wörle, H; Plecko, B.
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.
Neuropediatrics. 2008; 39(5):276-279
Doi: 10.1055/s-0029-1202833
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PubMed
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- Führende Autor*innen der Med Uni Graz
- Plecko Barbara
- Co-Autor*innen der Med Uni Graz
- Paschke Eduard
- Paul Karl
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- 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).
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Aldehyde Dehydrogenase - deficiency
- Aldehyde Dehydrogenase - genetics
- Alleles -
- Anticonvulsants - therapeutic use
- Blindness, Cortical - etiology
- Child -
- Child, Preschool -
- Diagnosis, Differential -
- Drug Therapy, Combination -
- Electroencephalography - drug effects
- Follow-Up Studies -
- Humans -
- Infant -
- Infant, Newborn -
- Intelligence - drug effects
- Male -
- Mutation, Missense -
- Neuropsychological Tests -
- Pyridoxine - therapeutic use
- Spasms, Infantile - diagnosis
- Spasms, Infantile - drug therapy
- Spasms, Infantile - genetics
- Status Epilepticus - complications
- Status Epilepticus - diagnosis
- Status Epilepticus - drug therapy
- Status Epilepticus - genetics
- Find related publications in this database (Keywords)
- pyridoxine-dependent seizures
- vitamin B6
- visual seizures
- IQ
- antiquitin
- status epilepticus