Epidemiology and Outcomes of Neurofibromatosis Type 1 (NF-1): Multicenter Tertiary Experience

• DOI: 10.2147/jmdh.s454921
• Publication Date: 2024-03-22T07:30:34Z
• Authors: Mohammed Almuqbil; Fatimah Alshaikh; Waleed Altwaijri; Duaa Baarmah; Raid Hommady; Maryam Alshaikh; Fares Alammari; Meshal Alhussain; Reem Almotawa; Faris Alqarni; Amna Kashgari; Rayan Alkhodair; Jumanah Alkhater; Lujeen Alkhater; Sawsan Alharthi; Mada Alsadi; Ahmed AlRumayyan
• Keywords: Neurofibromatosis type I; Tertiary care; Medical record; Christian ministry

Purpose: The aim of this manuscript was to assess the epidemiology and clinical features Neurofibromatosis type 1 (NF-1) based on newly published revised NF-1 diagnostic criteria evaluate complications including neurodevelopmental disorders. Patients methods: A retrospective cross-sectional observational study conducted in Ministry National Guard Health Affairs (MNGHA) healthcare organization branches four tertiary hospitals 51 primary health care centers different regions Saudi Arabia. This included all patients diagnosed with NF1 using NIH 2021 that were registered at electronic medical records (EMR) from 2015 2021. Results: total 184 fulfilled study. median age diagnosis 11 years (IQR: 4.00– 20.25). most encountered Café-au-lait macules (85.3%), (42.9%) found have two or more neurofibromas plexiform neurofibroma being common subtype (23.36%), approximately (36.4%) patient optic pathway glioma. Nearby (26.6%) displayed tumors. Iris Lisch nodules presented 36.4% a 12 9.0– 21.8). Cardiovascular abnormality 9.8% patients. Around 27.7% reported headache 11.4% suffered epilepsy. Besides, 10.5% had intellectual disability, 33.8% communication disorders, 4.9% ADHD. Conclusion: results will enable practitioners adopt holistic approach prioritize numerous attributes, which they can subsequently incorporate into their therapeutic methodologies. Furthermore, identification these attributes facilitate an expeditious accurate diagnosis. Hence, implementation intervention during its nascent phase may result advantageous consequence. Keywords: neurofibromatosis 1, café-au-lait macule, glioma,