Abstract
Introduction
Patau syndrome, trisomy 13, is the third commonest autosomal trisomy. It is associated
with a 25–50% prevalence of epilepsy, but detailed electroclinical descriptions are
rare. The occurrence of early-onset photosensitivity has recently been reported in
single patients.
Materials/patients
We collected electroclinical data on 8 infants (age range from 2 months to 3 years and 9 months, median: 17 months) with Patau syndrome referred for an EEG in our Clinical Neurophysiology Department
between 1991 and 2011.
Methods
All EEGs, case-notes, cytogenetic diagnosis and neuroimaging when available were reviewed;
data on the occurrence of seizures, epileptiform discharges, photoparoxysmal response
and their characteristics in terms of positive frequencies, latencies, grade and duration
were noted and analysed.
Results
Two patients had been previously diagnosed with epilepsy (one with tonic spasms and
one with multiple seizure types). We found 3 patients with photosensitive myoclonic
epilepsy (37.5%), and one with non-photosensitive myoclonic epilepsy. We also recorded
non-epileptic myoclonic jerks in one patient known to suffer from epileptic spasms.
Among photosensitive patients we found self-limited, Waltz’s grade 2–4, spike-wave/polyspike-wave
discharges in low, medium and high frequency ranges in two patients and in the high
frequency range in the third patient, with latencies and duration from less than 1 s to a maximum of 9 s.
Conclusions
In our cohort of Patau syndrome patients, we found a high prevalence of spasms and
photic-induced myoclonic jerks. Photosensitivity shows an unusual early age of onset.
Keywords
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Article info
Publication history
Published online: October 28, 2014
Accepted:
October 9,
2014
Received in revised form:
October 6,
2014
Received:
June 10,
2014
Identification
Copyright
© 2014 The Japanese Society of Child Neurology. Published by Elsevier Inc. All rights reserved.
