Pyridoxine dependent epilepsy: a suggestive electroclinical pattern
R Nabbouta, C Souffletb, P Plouinb, O Dulaca c
a Department of
Neuropaediatrics, b Department of Neurophysiology, c INSERM U 29 Université René Descartes
Hospital Saint Vincent de Paul
82 avenue Denfert Rochereau
75674 Paris cx 14 France
Correspondence to: Dr O Dulac.
Accepted 28 March 1999
AIMS
To determine if
there is an electroencephalographic pattern suggestive of pyridoxine
dependent epilepsy that could be used to improve the chances of early diagnosis.
METHODSA
retrospective study was made of all the clinical records and
electroencephalograms of neonates identified with pyridoxine dependent
seizures between 1983 and 1994, at this hospital. Neonates whose
seizures began after more than 28 days of life were excluded; in all,
five patients from four families were studied. Follow up ranged from 2 to 10 years.
RESULTSA history of
miscarriage and neonatal death during an epileptic seizure had occurred
in the siblings of two families. One mother reported rhythmic movements
of her child during the last month of pregnancy. At birth, all babies
were hypotonic; four had decreased visual alertness. All babies were
agitated, irritable, jittery, hyperalert, and exhibited sleeplessness
and a startle reaction to touch and sound. Age of onset of seizures
varied from 30 minutes to 3 days. Seizures of various types were
recorded in all cases on EEG tracings, including spasms, myoclonic
seizures, partial clonic, and secondary generalised seizures.
Burst-suppression patterns occurred in three cases, and a combination
of continuous and discontinuous patterns in two others. Bilateral high
voltage delta slow wave activity was observed in four patients.
Psychomotor delay was severe in three patients, moderate in one, and
mild in one.
CONCLUSIONSThere is
an identifiable EEG pattern that is highly suggestive of pyridoxine
dependent epilepsy. Pyridoxine dependent epilepsy is probably underdiagnosed.
Keywords: pyridoxine; convulsions; genetics; epilepsy
© 1999 by Archives of Disease in Childhood
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