Evidence map›Paper›PMID 38740395›Full record

ArticleNeurosciences (Riyadh, Saudi Arabia)2024

Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.

Mohammed Almuqbil, Waad Aldoohan, Sara Alhinti, Nora Almahmoud, Imad Abdulmajeed, Rayan Alkhodair, Amna Kashgari, Duaa Baarmah, Waleed Altwaijri, Ahmad Alrumayyan

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Article in Neurosciences (Riyadh, Saudi Arabia), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Mohammed AlmuqbilFrom the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.ORCID https://orcid.org/0000-0002-6057-9603
Waad AldoohanFrom the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Sara AlhintiFrom the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Nora AlmahmoudFrom the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Imad AbdulmajeedFrom the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Rayan AlkhodairFrom the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Amna KashgariFrom the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Duaa BaarmahFrom the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Waleed AltwaijriFrom the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Ahmad AlrumayyanFrom the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo determine the prevalence of tuberous sclerosis complex (TSC) in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous findings, neuroimaging results, and complications of the disease.

methodsA total of 61 genetically confirmed TSC patients from the National Guard Health Affairs (NGHA) in Saudi Arabia were the subject of this retrospective descriptive analysis. The data were presented using descriptive measures.

resultsThe mean age at diagnosis was found to be 4.9 years. Subependymal nodules (86.9%), numerous cortical tubers and/or radial migration lines (63.9%), and hypomelanotic macules (63.9%) were the 3 most common significant criteria. The vast majority (86.9%) of those diagnosed had epilepsy, of which 50% were considered medically intractable. Nearly half of our subjects underwent genetic testing, which revealed that TSC2 predominated over TSC1. Symptoms of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) were present in 66.7% of TSC1 patients and 73.9% of TSC2 patients.

conclusionThe findings of this study demonstrate that the clinical spectrum of TSC among Saudi children is consistent with the body of existing literature. The TSC2 was more prevalent than TSC1. The most frequent signs were cutaneous and neurological. Monitoring TSC patients regularly is crucial to identify any issues as soon as possible.

Indexed as

Tuberous SclerosisTuberous Sclerosis Complex 2 ProteinAdolescentChildChild, PreschoolEpilepsyFemaleHumansInfantMalePrevalenceRetrospective StudiesSaudi ArabiaTuberous Sclerosis Complex 1 ProteinTumor Suppressor ProteinsTSC1 protein, humanTSC2 protein, humanTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinTumor Suppressor Proteins

Identifiers

PMID38740395
PMCPMC11305360

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