Inspired by a patient
Verrotti A, Sertorio F, Matricardi S, Ferrara P, Striano P.
Electroclinical features of epilepsy in patients with InvDup(15). Seizure.
2017 Apr;47:87-91. doi: 10.1016/j.seizure.2017.03.006. Epub 2017 Mar 9.
Abstract
PURPOSE:
InvDup(15) syndrome is one of the most common chromosomal
abnormalities associated with epilepsy. Here we review the seizure types
described in InvDup(15) patients and the main electroclinical, therapeutic, and
prognostic aspects of the syndrome.
METHODS:
A literature search of PubMed, MEDLINE, and EMBASE was
performed to identify papers examining InvDup(15) syndrome and epilepsy.
RESULTS:
About 65% of the InvDup(15) patients described in the
literature had multiple seizure types with a predominance (40.4%) of
tonic-clonic seizures. Age at seizure onset was before 10 years in more than
half of them. Patients suffered from a variety of EEG abnormalities,
generalized spike activity being the most frequent. Brain MRI was unremarkable
in the majority of patients. Treatment was with several anticonvulsant drugs
used as mono- or polytherapy. Valproic acid was the most common treatment
against generalized seizures and was often effective, although drug resistance
was a major concern in a large number of cases. Finally, more than 30% of the
children suffered from infantile spasms, and status epilepticus was described
in nearly 20% of patients, occasionally resulting in death.
CONCLUSION:
Seizures are very common in InvDup(15) patients, who suffer
from a variety of seizure types. Information about EEG and brain MRI findings,
seizure treatment, and prognosis is often poor. The overall prognosis is fair.
Prospective studies of larger samples are needed, to gain further insights into
the natural history of InvDup(15) syndrome.
Luchsinger K, Lau H, Hedlund JL, Friedman D, Krushel K,
Devinsky O. Parental-reported pain insensitivity in Dup15q. Epilepsy
Behav. 2016 Feb;55:124-7. doi: 10.1016/j.yebeh.2015.10.007. Epub 2016
Jan 13.
Abstract
Parents of children with chromosome 15q duplication syndrome
(Dup15q) have anecdotally reported high pain threshold as a feature of the
disorder. The purpose of this study was to document parental-reported estimates
of the frequency of high pain tolerance and the stimuli that fail to evoke a normal
pain response. We sent an online survey to 840 families with children with
Dup15q to explore the frequency and clinical manifestations of high pain
threshold. There were 216 respondents (25.7%). A high pain threshold was
reported in 87% of children at some time. There was a trend (p=0.06) for high
pain threshold to be more commonly observed among children with the
isodicentric (85.6%) and other genetic variants (95%) than interstitial (69.6%)
duplications. There was no association between reports of high pain threshold
and reports of an intellectual disability (91% of cases), autism spectrum
disorder (83% of cases), or self-injurious behavior (40% of cases). Reports
included many dramatic cases such as severe burns, broken bones, and electrical
traumas, which were associated with little or no evidence of a painful
stimulus. A high pain threshold is reported in other disorders associated with
intellectual disability and autism; the underlying mechanism in Dup15q and
other disorders remains undefined.
Boronat S, Mehan WA, Shaaya EA, Thibert RL, Caruso P.
Hippocampal abnormalities in magnetic resonance imaging (MRI) of 15q
duplication syndromes. J Child Neurol. 2015 Mar;30(3):333-8.
Abstract
Patients with 15q duplication syndromes, including
isodicentric chromosome 15 and interstitial duplications, usually present with
autism spectrum disorder, intellectual disability, and frequently epilepsy.
Neuroimaging studies in these patients are typically reported as normal, but
nonspecific findings such as thinning of the corpus callosum and increased
pericerebral spaces have been reported. A review of brain magnetic resonance
imaging (MRI) studies of 11 individuals seen at the Massachusetts General
Hospital Dup15q Center was performed. Hippocampus morphology was specifically
reviewed, as a recent neuropathologic study has found frequent hippocampal
heterotopias and dysplasias in these disorders. Two subjects had unilateral
hippocampal sclerosis and 6 had bilateral hippocampal malformations. Hypoplasia
of the corpus callosum was present in 2 subjects.
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