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Diagnostic criteria for early-onset vitamin-dependent (pyridoxine or pyridox(am)ine 5'-phosphate dependent) DEE

Diagnostic criteria for early-onset vitamin-dependent (pyridoxine or pyridox(am)ine 5'-phosphate dependent) DEE
  Mandatory Alerts Exclusionary
Seizures
  • Variable seizure types, which may include:
    • Focal/multifocal seizures
    • Epileptic spasms
    • Generalized tonic seizures
    • Generalized clonic seizures
  • Seizures are drug resistant and frequent (often evolving to status epilepticus) but rapidly respond to pyridoxine (pyridoxine-dependent-DEE) or pyridoxal-5-phosphate (pyridox(am)ine 5'-phosphate-DEE) supplementation
    
EEG
  • Interictal: Abnormal with slowing and focal/multifocal discharges or burst suppression pattern
    
Age at onset  
  • Age >3 years at onset (there are rare, later-onset forms of pyridoxine-dependent epilepsy)
  
Neurologic examination  
  • Lack of encephalopathy and irritability
  
Other testing (eg, genetics)
  • Laboratory testing providing confirmatory evidence, which may include:
    1. Metabolic features: Increased alpha-aminoadipic semialdehyde and/or pipecolic acid in urine, plasma, and/or CSF (pyridoxine-dependent-DEE) or low pyridoxal-5-phosphate in CSF (pyridox(am)ine 5'-phosphate-DEE)

      OR

    2. Genetic features: Pathogenic variants in ALDH7A1 or PLBP (pyridoxine dependent-DEE) or PNPO gene (pyridox(am)ine 5'-phosphate-DEE)
    
Course of illness
  • Seizures that show sustained marked reduction or cessation with lifelong pyridoxine or pyridoxal-5-phosphate
  • Normal neurodevelopmental outcome
  
Is MRI or ictal EEG required for diagnosis?
  • An MRI is not required for diagnosis but is strongly recommended to exclude other causes
  • An ictal EEG is not required for diagnosis
Syndrome without laboratory confirmation: In resource-limited regions, pyridoxine or pyridox(am)ine 5'-phosphate-DEE can be diagnosed in children without alerts who meet all other mandatory and exclusionary clinical criteria and whose seizures cease with pyridoxine or P5P supplementation, recur when supplementation is stopped, and cease again with reintroduction of supplementation
EEG: electroencephalography; CSF: cerebrospinal fluid; MRI: magnetic resonance imaging.
From: Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2022; 63:1349. Copyright © 2022 The Authors. Available at: https://onlinelibrary.wiley.com/doi/10.1111/epi.17239 (Accessed on November 14, 2022). Reproduced under the terms of the Creative Commons Attribution License 4.0.
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