Pyridoxine-dependent seizures
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(antiquitine deficiency)
Prevalence 1/500,000. Neurometabolic disease. Autosomal recessive transmission of mutations in the ALDH7A1 gene (5q31), resulting in a deficiency in antiquitine (or aminoadipic semi-aldehyde dehydrogenase) involved in the cerebral metabolism of lysine.
Typical form: very early onset (first days of life, sometimes antenatal crises) of convulsive polymorphic seizures resistant to treatment that can develop into status epilepticus or even death without treatment. Sometimes: vomiting, abdominal bloating, abnormal eye movements.
Non-typical forms: later onset (a few months) with recurrent status epilepticus or crisis caused by fever.
Biology: high blood and CSF level of pipecolic acid .
Quick response (< 15 minutes) to the IV administration of 100 mg vitamin B6
Treatment: pharmacologic doses of vitamin B6 (15-30 mg/kg/d in 3 doses).
The crisis usually disappear if the treatment is maintained at the correct posology. Sometimes recurrence during intercurrent infections. In 75 to 80% cases, a moderate mental deficit (delayed skill acquisitions, for example) is present.
Anesthetic implications:
epileptic child
References :
- Cano A, Valayannpoulos V.
Nouvelles pathologies,
in Maladies métaboliques héréditaires, editeurs B Chabrol et P de Lonlay, Doin 2011, p 165-7
Updated: April 2017