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RELN gene-related drug-resistant epilepsy with periventricular nodular heterotopia treated with radiofrequency thermocoagulation: a case report.

ABSTRACT: An increasing number of gene mutations associated with epilepsy have been identified, some linked to gray matter heterotopia-a common cause of drug-resistant epilepsy. Current research suggests that gene mutation-associated epilepsy should not be considered a contraindication for surgery in epilepsy patients. At present, stereoelectroencephalography-guided radiofrequency thermocoagulation is an important method to treat periventricular nodular heterotopia-associated drug-resistant epilepsy. We present a case of drug-resistant epilepsy, accompanied by periventricular nodular heterotopia and a heterozygous mutation of the RELN gene, successfully treated with radiofrequency thermocoagulation, resulting in a favorable outcome.

SUBMITTER: Li Z

PROVIDER: S-EPMC11004351 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature

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<i>RELN</i> gene-related drug-resistant epilepsy with periventricular nodular heterotopia treated with radiofrequency thermocoagulation: a case report.

Li Zijian Z Wang Fuli F He Zhidong Z Guo Qi Q Zhang Jinnan J Liu Songyan S

Frontiers in neurology 20240327

An increasing number of gene mutations associated with epilepsy have been identified, some linked to gray matter heterotopia-a common cause of drug-resistant epilepsy. Current research suggests that gene mutation-associated epilepsy should not be considered a contraindication for surgery in epilepsy patients. At present, stereoelectroencephalography-guided radiofrequency thermocoagulation is an important method to treat periventricular nodular heterotopia-associated drug-resistant epilepsy. We p ...[more]

PMID: 38601336

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Project description:RationalePeriventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improper neuronal migration during neurogenesis in cortex development caused by pathogenic variants in the NEDD4L gene.Patient concernsWe report the case of a polystigmatized 2-year-old boy having significant symptomatologic overlap with PVNH7, such as delayed psychomotor and mental development, seizures and infantile spasms, periventricular nodular heterotopia, polymicrogyria, cleft palate, 2 to 3 toe syndactyly, hypotonia, microretrognathia, strabismus, and absent speech and walking. The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue sclerae, hydronephrosis, transversal palmar crease (found also in their father), and bilateral talipes equinovarus. In addition, the patient suffered from many other symptoms.DiagnosesThe boy, his brother and their parents were subjected to whole-exome sequencing. Because of uncertainties in symptomatology and inheritance pattern, the top-down approach was hard to apply. Using the bottom-up approach, we identified a known pathogenic variant, NM_001144967.2(NEDD4L):c.2677G>A:p.Glu893Lys, in the proband's genome that absented in any other analyzed family member, suggesting its de novo origin.Interventions and outcomesThe patient was treated with Convulex 300 mg/mL for the successful seizure control and Euthyrox 25mg for the treatment of thyroid malfunction. He also took various supplements for the metabolism support and digestion regulation. Moreover, the patient underwent the corrective surgeries of cleft palate and talipes equinovarus.LessonsWe successfully identified the causative mutation NM_001144967.2(NEDD4L):c.2677G>A:p.Glu893Lys explaining symptoms overlapping those reported for PVNH7. Symptoms shared with the brother were not explained by this variant, since he was not a carrier of the pathogenic NEDD4L variant. These are most likely not extended phenotypes of PVNH7, rather an independent clinical entity caused by a yet unidentified genetic factor in the family, highlighting thus the importance of thorough evaluation of symptomatology and genomic findings in affected and unaffected family members, when such data are available.

Project description:BackgroundStereoelectroencephalography (SEEG) has become a common diagnostic method in epilepsy surgery and is found to be safe for a wide range of clinical applications. SEEG combined with radiofrequency thermocoagulation (RF-TC) not only reveals the seizure onset zone by hypothesis, but also acts as a treatment option without any additional cost to institutions and patients. Thus, we analyzed the treatment of the SEEG-guided RF-TC.MethodsThis retrospective study analyzed seventeen epileptic patients treated with RF-TC between April 2019 and December 2020. All patients underwent a single round of SEEG-guided RF-TC treatment after more than three habitual seizures were recorded. The demographic characteristics of the patients were retrospectively reviewed. Outcomes were assessed using the Engel classification system.ResultsAll patients underwent SEEG-guided RF-TC without catastrophic functional damage. Follow-up data of all patients were complete. The number of contacts per patients where RF-TC was applied ranged from 9 to 43 (mean: 17.7±10.2). After RF-TC, the types of anti-epileptic drugs used reduced from 2.4±0.7 to 1.6±0.7. With RF-TC alone, four (23.5%) patients achieved Engel Ia, two (11.8%) patients achieved Engel Ib, one patient underwent resection without seizure at the 5-month follow-up, five patients had a relapse after 3-10 months of seizure freedom, and five patients had recurrence after 1 month. After RF-TC, six patients underwent secondary interventions followed by resection. Overall, 12 patients achieved Engel Ia or Ib, three patients achieved Engel IIa or IIb, and two patients achieved Engel IIIa. There were no Engel IV cases.ConclusionsSEEG-guided RF-TC performed in our institution was found to be a safe ablation procedure for the treatment of drug-resistant focal epilepsy. All patients experienced a reduction in the frequency of seizures after receiving RF-TC. RF-TC can be used as a palliative treatment option for patients with epilepsy who refuse surgery or cannot undergo resection surgery. Recurrence of focal epilepsy after RF-TC can be treated with resection surgery to achieve the seizure-free status.

Project description:BackgroundHeterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to initially present with difficult to treat seizures at variable age of onset. Psychomotor development and cognition may be normal or mildly to moderately impaired. Distinct associated extracerebral findings have been observed and may help to establish the diagnosis including patent ductus arteriosus Botalli, progressive dystrophic cardiac valve disease and aortic dissection, chronic obstructive lung disease or chronic constipation. Genotype-phenotype correlations could not yet be established.MethodsSanger sequencing and MLPA was performed for a large cohort of 47 patients with Filamin A associated PVNH (age range 1 to 65 years). For 34 patients more detailed clinical information was available from a structured questionnaire and medical charts on family history, development, epileptologic findings, neurological examination, cognition and associated clinical findings. Available detailed cerebral MR imaging was assessed for 20 patients.ResultsThirty-nine different FLNA mutations were observed, they are mainly truncating (37/39) and distributed throughout the entire coding region. No obvious correlation between the number and extend of PVNH and the severity of the individual clinical manifestation was observed. 10 of the mutation carriers so far are without seizures at a median age of 19.7 years. 22 of 24 patients with available educational data were able to attend regular school and obtain professional education according to age.ConclusionsWe report the clinical and mutation spectrum as well as MR imaging for a large cohort of 47 patients with Filamin A associated PVNH including two adult males. Our data are reassuring in regard to psychomotor and cognitive development, which is within normal range for the majority of patients. However, a concerning median diagnostic latency of 17 to 20 years was noted between seizure onset and the genetic diagnosis, intensely delaying appropriate medical surveillance for potentially life threatening cardiovascular complications as well as genetic risk assessment and counseling prior to family planning for this X-linked dominant inherited disorder with high perinatal lethality in hemizygous males.

Dataset Information

RELN gene-related drug-resistant epilepsy with periventricular nodular heterotopia treated with radiofrequency thermocoagulation: a case report.

Publications

<i>RELN</i> gene-related drug-resistant epilepsy with periventricular nodular heterotopia treated with radiofrequency thermocoagulation: a case report.

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