Pediatric epilepsies misdiagnosed as gastrointestinal disorders

Carbonari, Giulia; Tonti, Giacomo; Pisa, Veronica Di; Franzoni, Emilio; Cordelli, Duccio Maria

doi:10.1016/j.yebeh.2018.03.034

Cited by 15 publications

(7 citation statements)

References 9 publications

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“…In their analysis of patients with MELAS, de Laat et al found that 20% experienced dysphagia and constipation while 40% experienced gastroparesis, which often contributes to nutrition absorption failures and malnutrition (27). Gastrointestinal symptoms may be due to either central or peripheral neuropathy, though epilepsies such as panayiotopoulos epilepsy or the aura that accompanies a focal epilepsy are often misdiagnosed as celiac disease or other gastrointestinal diseases (28) and thus the connection between these symptoms and epilepsies remains poorly understood. For instance, Yeh et al reported a high risk of gastrointestinal hemorrhage in epilepsy patients (29), though this was not correlated with the severity of the epilepsy or considered to be a risk factor for future seizures.…”

Section: Discussionmentioning

confidence: 99%

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Lee

2019

Front. Neurol.

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Background: Leigh syndrome is a mitochondrial cytopathy that presents as a neurodegenerative disease with apparent manifestation in the central nervous system. The aim of the present study was to describe its dominant neurological clinical features and analyze data related to epilepsy in Leigh syndrome accompanied by a mitochondrial DNA mutation. Methods: Whole mitochondrial sequencing was performed on 125 patients clinically suspected of Leigh syndrome. Among them, 25 patients were identified to have mitochondrial DNA associated Leigh syndrome. Electroencephalography (EEG) findings, semiology, brain imaging findings, and biochemical results, were evaluated. We also compared brain magnetic resonance imaging findings and biochemical features in patients with Leigh syndrome based on the presence of epilepsy. Results: Clinical seizures were observed in 14 out of 25 enrolled patients (56%), with focal seizures being the most common type (6/14, 42.8%). All patients were found to have slow and disorganized background neural activity while eight exhibited epileptic discharges on EEG. Mutations at base pairs 10,191 and 8,993 were revealed in a relatively larger number of patients of Leigh syndrome with epilepsy. The presence of gastrointestinal symptoms was significantly more frequent in the epilepsy group ( P = 0.042). Diffuse cerebral atrophy was significantly increased ( P = 0.042) and cortex signal abnormalities were also increased ( P = 0.033) in the epilepsy group. Conclusions: Patients with Leigh syndrome and mitochondrial DNA mutations had a high proportion of central nervous system comorbidities, though the prevalence of epilepsy in this population was not particularly high. Various types of seizure and EEG findings are common in those with Leigh syndrome. Future imaging studies involving more patients and proper mitochondrial DNA mutation analyses are needed to further evaluate the natural course of Leigh syndrome with epilepsy.

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Section: Discussionmentioning

confidence: 99%

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Lee

2019

Front. Neurol.

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“…Differential diagnosis includes other forms of epileptic syndromes such asRolandic epilepsy, described as self-limited epilepsy with centrotemporal spikes, and childhood occipital visual epilepsy named Gastaut syndrome [ 56 ].…”

Section: Resultsmentioning

confidence: 99%

“…In casesthat are definitely non-specific to epileptic disorders, clinical symptoms of autonomic status epilepticus in PS could be misclassified and incorrectly diagnosed as a non-epileptic condition. The epileptic explanation is suspected by electroencephalography features and motor ictal symptoms presented after seizure episodes [ 21 , 56 ]. It is essential to distinguish PS from non-epileptic disorders due to the similarity of clinical features.…”

Section: Resultsmentioning

confidence: 99%

“…It is essential to distinguish PS from non-epileptic disorders due to the similarity of clinical features. These conditions include headache syndromes such asmigraine or parasomnias such assomnambulism [ 21 , 56 ]. Primary signs and symptoms such as vomiting or nausea could suggest gastrointestinal illnesses such as GERD (gastroesophageal reflux disease), gastrointestinal inflammatory diseases, CVS (cyclic vomiting syndrome) or increased intracranial pressure due to brain tumors [ 21 , 56 , 57 ].…”

Section: Resultsmentioning

confidence: 99%

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Gastrointestinal and Autonomic Symptoms—How to Improve the Diagnostic Process in Panayiotopoulos Syndrome?

Zontek

Paprocka

2022

Children

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One of the most common epileptic disorders in the pediatric population is Panayiotopoulos syndrome. Clinical manifestations of this idiopathic illness include predominantly autonomic symptoms and dysfunction of the cardiorespiratory system. Another feature constitutes prolonged seizures that usually occur at sleep. It is crucial to differentiate the aforementioned disease from other forms of epilepsy, especially occipital and structural epilepsy and non-epileptic disorders. The diagnostic process is based on medical history, clinical examination, neuroimaging and electroencephalography—though results of the latter may be unspecific. Patients with Panayiotopoulos syndrome (PS) do not usually require treatment, as the course of the disease is, in most cases, mild, and the prognosis is good. The purpose of this review is to underline the role of central autonomic network dysfunction in the development of Panayiotopoulos syndrome, as well as the possibility of using functional imaging techniques, especially functional magnetic resonance imaging (fMRI), in the diagnostic process. These methods could be crucial for understanding the pathogenesis of PS. More data arerequired to create algorithms that will be able to predict the exposure to various complications of PS. It also concerns the importance of electroencephalography (EEG) as a tool to distinguish Panayiotopoulos syndrome from other childhood epileptic syndromes and non-epileptic disorders.

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“…Referral delay in the reviewed studies was attributed to failure of medical practitioners to recognize seizures. Studies outside the scope of this review also note difficulties with recognition of subtle epileptic phenomena by general physicians and specialists, including misdiagnosis, 30,[36][37][38] lack of history-taking skills, 39,40 and failure to recognize evidence even when typical presentations had been recorded. 41 In the studies reviewed here, an eloquent illustration of the failure to recognize the importance of event descriptions and symptoms was a report by Hamiwka et al 3 that none of the patients who had previous seizures had a referral letter that included a comment on these events.…”

Section: Discussionmentioning

confidence: 99%

Missed, mistaken, stalled: Identifying components of delay to diagnosis in epilepsy

2021

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A substantial proportion of individuals with newly diagnosed epilepsy report prior seizures, suggesting a missed opportunity for early epilepsy care and management.Consideration of the causes and outcomes of diagnostic delay is needed to address this issue. We aimed to review the literature pertaining to delay to diagnosis of epilepsy, describing the components, characteristics, and risk factors for delay. We undertook a systematic search of the literature for full-length original research papers with a focus on diagnostic delay or seizures before diagnosis, published 1998-2020.Findings were collated, and a narrative review was undertaken. Seventeen papers met the inclusion criteria. Studies utilized two measures of diagnostic delay: seizures before diagnosis and/or a study-defined time between first seizure and presentation/ diagnosis. The proportion of patients with diagnostic delay ranged from 16% to 77%; 75% of studies reported 38% or more to be affected. Delays of 1 year or more were reported in 13%-16% of patients. Seizures prior to diagnosis were predominantly nonconvulsive, and usually more than one seizure was reported. Prior seizures were often missed or mistaken for symptoms of other conditions. Key delays in the progression to specialist review and diagnosis were (1) "decision delay" (the patient's decision to seek/not seek medical review), (2) "referral delay" (delay by primary care/ emergency physician referring to specialist), and (3) "attendance delay" (delay in attending specialist review). There were few data available relevant to risk factors and virtually none relevant to outcomes of diagnostic delay. This review found that diagnostic delay consists of several components, and progression to diagnosis can stall at several points. There is limited information relating to most aspects of delay apart from prevalence and seizure types. Risk factors and outcomes may differ according to delay characteristics and for each of the key delays, and recommendations for future research include examining each before consideration of interventions is made.

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Pediatric epilepsies misdiagnosed as gastrointestinal disorders

Cited by 15 publications

References 9 publications

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Gastrointestinal and Autonomic Symptoms—How to Improve the Diagnostic Process in Panayiotopoulos Syndrome?

Missed, mistaken, stalled: Identifying components of delay to diagnosis in epilepsy

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