Observational studyNeurosciences (Riyadh, Saudi Arabia)2020
Clinical spectrum of neurofibromatosis type 1 among children in a tertiary care center.
Observational study in Neurosciences (Riyadh, Saudi Arabia), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Prevalence of neuropsychiatric and seizure disorders in neurofibromatosis type 1: a systematic review and meta-analysis.Journal of neurology · 2026Pooled it
- Progressive cervicothoracic meningocele with neurovascular compression and spinal deformity in neurofibromatosis type 1: a decade-long radiological and clinical evolution with operative repair. Illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Clinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience.Hereditary cancer in clinical practice · 2025Article
- Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.European journal of pediatrics · 2025Article
- Clinical Characteristics of Seizures and Course of Epilepsy in Children with Neurofibromatosis Type 1-A Tertiary Center Experience in a Cohort of 118 Children.Diagnostics (Basel, Switzerland) · 2025Article
- Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations.Frontiers in oncology · 2024Review
- Clinical Profile of Neurofibromatosis Type 1: Paediatric Patients from a Tertiary Care Centre.Indian journal of dermatologyArticle
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify the clinical and neuroradiological features of neurofibromatosis type 1 and the risk of malignancy in a pediatric age group.
methodsThis observational retrospective cohort study was conducted at King Saud University Medical City, Riyadh, Kingdom of Saudi Arabia, for the patients with neurofibromatosis type 1 who were seen and had follow up from January 2000 to January 2019.
resultsA total of 50 children were included. Approximately 90% of patients presented with cafe-au-lait macules, and 34% had skin-fold freckling. Moreover, 42% of the participants had a first-degree relative with neurofibromatosis type 1, and about a quarter presented with associated epilepsy. About 90% of the neuroradiological features were consistent with those of neurofibromatosis type 1. About 52% of the patients had one or multiple types of tumors, and 34% presented with optic pathway glioma.
conclusionThis study described clinical spectrum of neurofibromatosis type 1 among children. It showed also a higher percentage of tumors than previous studies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.