Stimulus-induced reflex epileptic spasms in 5p− syndrome

Shirai, Kentaro; Saito, Yoshiaki; Yokoyama, Atushi; Nishimura, Yoko; Tamasaki, Akiko; Maegaki, Yoshihiro

doi:10.1016/j.braindev.2015.08.002

Cited by 4 publications

(5 citation statements)

References 15 publications

(21 reference statements)

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“…The second point of interest is the occurrence of reflex epileptic seizures, also not previously reported in PURA syndrome: the child initially experienced a series of spasms during specific actions (hand washing and tooth brushing). Stimulus-induced epileptic spasms are a rare type of reflex seizures, already described in genetic conditions, including chromosomal abnormalities, Rett syndrome and CDKL5related encephalopathy [6][7][8]; among the different stimuli that can provoke epileptic spasms, eating is the most frequently described. In our case, triggers consisted of hand washing and tooth brushing, both suggesting a specific sensitivity to somatosensory stimuli, especially prolonged stimuli, as occurs in rub epilepsy [9].…”

Section: Discussionmentioning

confidence: 99%

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Solazzi¹,

Fiorini²,

Parrini³

et al. 2021

Epileptic Disorders

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PURA syndrome is a distinct form of developmental encephalopathy, characterized by early-onset hypotonia, severe developmental delay, intellectual disability, epilepsy and respiratory and gastrointestinal disorders. We report a child with PURA syndrome, harbouring a previously described mutation, whose phenotype included two peculiar aspects: (1) hypokinetic-rigid syndrome, which was part of the clinical presentation from an early stage of the disease, and (2) reflex seizures, consisting of a series of spasms. We provide detailed clinical description and video recordings demonstrating both these aspects that are newly described in PURA syndrome. The early clinical features described here may therefore be included in the complex phenotype associated with PURA gene mutations and may help in the early diagnosis of patients. Furthermore, PURA syndrome should be considered in the differential diagnosis of early-onset bradykinetic rigid syndromes.

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Section: Discussionmentioning

confidence: 99%

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Solazzi¹,

Fiorini²,

Parrini³

et al. 2021

Epileptic Disorders

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“…In both the case series and the case reports, the most common and constant trigger was by definition the act of eating itself 2,4,11,[13][14][15][16][17][18][19][21][22][23][24][26][27][28][29][30][31][33][34][35][36][37][38][42][43][44][45][46] but in some cases other stimuli were detailed such as chewing 2,7,14,18,24,25,27,34,36 , swallowing 7,25,27,36 , drinking 7,24 , seeing 18,37,39,45 , smelling 11,37,39 , and even thinking 31,37 or talking 37 about food. Orofacial stimuli 2 , taking food to the mouth 7 , hunger alone 37 , eating snacks…”

Section: Discussionmentioning

confidence: 99%

“…MRI and CT findings were variable. Some abnormalities were encephalomalacia, sclerosis, pachygyria, polymicrogyria, dysplasia, glioma, ventriculomegaly, meningioma, cavernoma, astrocytoma, and other lesions 2,4,7,[14][15][16]21,22,26,29,31,32,34,36,37,43 . Four authors reported positron emission tomography; three presented hypometabolism 7,33,44 , and one was normal 46 .…”

Section: Discussionmentioning

confidence: 99%

“…Although the pathophysiology of EE is not clear, according to case reports and small case series in the literature, plausible mechanisms for its appearance have been proposed. A genetic involvement is shown in subjects with mutations in genes SYNGAP1 2 , MECP2 11 ; as well as familial EE 5 , associated with Rett 12 , Cri du Chat, 13,14 and congenital or acquired bilateral opercular syndromes 15,16 . Ethnic origin and environmental factors such as chemical composition of food, culinary habits, feeding behavior, and emotional and psychological involvement may be important in EE etiology 7,17 .…”

Section: Introductionmentioning

confidence: 99%

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Eating epilepsy. A narrative review

Ruiz-León¹,

Sánchez-Torres²,

Anda³

et al. 2021

RMN

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Eating epilepsy (EE) is rare reflex epilepsy in which seizures are triggered by mechanisms related to the eating process. In this narrative review, we analyzed case series and case reports found in the literature and describe sociodemographic, semiological, and radiological characteristics of patients with EE in the general population. Our analysis revealed that this epilepsy is more common in male patients and usually presents with focal onset seizures. There is wide variability in clinical presentation and there is not enough evidence to affirm that there is a specific food or diet that triggers the seizures. Temporolimbic and suprasylvian areas of the frontal and temporal lobes, particularly the insular and opercular cortex, play an important role in the pathophysiology of EE as found in neuroradiological and neurosurgical studies. As for the treatment, there is a high prevalence of pharmacoresistance and clobazam was the most used antiepileptic drug, usually as an add-on therapy.

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“…One of the characteristic features of these clinical epileptic spasms is a brief rhomboid-shape appearance on the surface electromyography (EMG) of the deltoids. Epileptic spasms occur primarily in infants but may also occur in other age groups (3)(4)(5), even in adults (6). Epileptic spasms can be the main seizure type of some primary epilepsy syndromes (7,8), such as infantile spasms, Ohtahara Syndrome, and West Syndrome.…”

Section: Introductionmentioning

confidence: 99%

Status Epilepticus Manifested as Continuous Epileptic Spasms

et al. 2020

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The etiology and outcome of status epilepticus with continuous epileptic spasms have not been fully understood; and only rare cases have been reported in the literature. Here, we described 11 children, who manifested continuous epileptic spasms with various etiologies and different outcomes.Methods: This is a case series study designed to systematically review the charts, video-electroencephalography (video-EEG), magnetic resonance images, and longitudinal follow-up of patients who presented continuous epileptic spasms lasting more than 30 min.Results: Median age at onset was 2 years old, ranging from 2 months to 5.6 years. The etiology of continuous epileptic spasms for these 11 cases consisted of not only some known electro-clinical epilepsy syndromes like West Syndrome and Ohtahara Syndrome, but also secondary symptomatic continuous epileptic spasms, caused by acute encephalitis or encephalopathy, which extends the etiological spectrum of continuous epileptic spasms. The most characteristic feature of these 11 cases was prolonged epileptic spasms, lasting for a median of 13.00 days (95% CI: 7.26-128.22 days). The interictal EEG findings typically manifested as hypsarrhythmia or its variants, including burst suppression. Hospital stays were much longer in acute symptomatic cases than in primary epileptic syndromic cases (59.67 ± 50.82 vs. 15.00 ± 1.41 days). However, the long-term outcomes were extremely poor in the patients with defined electro-clinical epilepsy syndromes, including severe motor and intellectual developmental deficits (follow-up of 4.94 ± 1.56 years), despite early diagnosis and treatment. Continuous epileptic spasms were refractory to corticosteroids, immuno-modulation or immunosuppressive therapies, and ketogenic diet. Conclusion:Continuous epileptic spasms were associated with severe brain impairments in patients with electro-clinical syndromes; and required long hospital stays in patients with acute symptomatic causes. We suggest to include continuous epileptic spasms in the international classification of status epilepticus, as a special form. Further investigations are required to better recognize this condition, better understand the etiology, as well as to explore more effective treatments to improve outcomes.

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Stimulus-induced reflex epileptic spasms in 5p− syndrome

Cited by 4 publications

References 15 publications

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Eating epilepsy. A narrative review

Status Epilepticus Manifested as Continuous Epileptic Spasms

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