Multiple endocrine neoplasia type 1 presenting with refractory seizures

Kumawat, Banshi Lal; Sharma, C. M.; Shah, Mohit J; Panchal, Maulik

doi:10.1136/bcr-2016-218982

Cited by 2 publications

(1 citation statement)

References 6 publications

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“…Recurrent hypoglycemia attacks may be the initial manifestation of MEN1 (26), and these attacks may induce seizures. Insulinomas should be considered in patients with endocrine disorders complicated with refractory epilepsy (27). There are generally no clinical symptoms or biochemical changes for nonfunctioning tumors, and the tumors are usually detected in imaging examinations.…”

Section: Gastro-entero-pancreatic Endocrine Tumorsmentioning

confidence: 99%

A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis

et al. 2021

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We aimed to provide ideas for clinicians, especially radiologists, for the diagnosis of multiple endocrine neoplasia (MEN) syndromes.Background: MEN syndromes include MEN1, MEN2, and MEN4 and usually involve 2 or more endocrine tumors. The MEN syndromes are a group of euchromatic dominant genetic diseases, and the main genes involved include MEN1 (MEN1), RET (MEN2), and CDKN1B (MEN4).Methods: In this article, involving 8 cases (4 cases of MEN1, 2 cases of MEN2A, 1 case of MEN2B, 1 case of MEN4) from our center, we introduced the disease spectrum, clinical manifestations (especially imaging findings), and related genes involved in each type of MEN syndromes. We also discussed the differential diagnosis between MEN and sporadic tumors and emphasized that MEN should be screened and the relevant required examinations. Conclusions:Considering that MEN syndromes involve multiple endocrine gland tumors and nonendocrine organ diseases, it is very important to identify potential patients early and perform multiple examinations on them, including biochemical and multitype, and multisite imaging examinations according to the disease spectrum of each type. Considering that this is a group of genetic diseases, both interviewing patients about their family history and genetic testing are also very important. Only in this way can a comprehensive and accurate diagnosis be made, enabling patients to receive appropriate treatment and improve their prognosis.

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Section: Gastro-entero-pancreatic Endocrine Tumorsmentioning

confidence: 99%

A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis

et al. 2021

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The complex etiology of Epilepsy in the Middle East: Genetic analysis and HLA associations

Fadda,

Alsabbagh,

Vasudeva

et al. 2024

Preprint

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Objectives Epilepsy is one of the most common neurological disorders. The cost to the health system and the impact on quality of life for patients with intractable epilepsies and associated comorbidities is significant. Disease etiology and pathogenesis are still not well understood. Genetic variants have been shown to be associated with 70% of epilepsies, and the remaining 30% enigmatic. This knowledge gap necessitates further research. The goal of this study is to partially bridge this gap through the genetic analysis of a cohort of patients with epilepsy from an understudied and highly consanguineous population, primarily of ethnicities from the Middle East and North Africa region. Methods Whole exome sequencing was carried out in 67 patients and their family members at a tertiary center in Qatar. The focus was on identifying deleterious genetic variants associated with epilepsy. Additionally, we performed in silico typing for 13 class I & II HLA genes and performed association analysis with disease status. Results Approximately 30% of cases were resolved through genetic analysis, revealing deleterious variants within 15 genes of established relevance to epilepsy and 5 others with weaker ties to the condition. These variants include single nucleotide variations (SNVs), small insertion/deletions (indels), copy number variations (CNVs) and loss of heterozygosity (LOH). Around 40% of the SNVs and indels are novel. The mode of inheritance is roughly evenly distributed between autosomal dominant and autosomal recessive, with two cases of X-linked recessive and one case of X-linked inheritance. Furthermore, we identified positive associations between epilepsy and alleles DRB1*07:01:01G and DRB4*01:01:01G, while allele DRB3*01:01:02Gexhibited a negative association. Significance Collectively, these findings delineate novel variants and a multifaceted genetic etiology in epilepsy pathogenesis, encompassing both immune and non-immune genes.

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Multiple endocrine neoplasia type 1 presenting with refractory seizures

Cited by 2 publications

References 6 publications

A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis

A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis

The complex etiology of Epilepsy in the Middle East: Genetic analysis and HLA associations

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