Journal of Multidisciplinary Healthcare (Mar 2024)

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

  • Almuqbil M,
  • Alshaikh FY,
  • Altwaijri W,
  • Baarmah D,
  • Hommady RH,
  • Alshaikh MY,
  • Alammari F,
  • Alhussain M,
  • Almotawa R,
  • Alqarni F,
  • Kashgari A,
  • Alkhodair R,
  • Alkhater JN,
  • Alkhater LN,
  • Alharthi SA,
  • Alsadi MA,
  • AlRumayyan A

Journal volume & issue
Vol. Volume 17
pp. 1303 – 1314

Abstract

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Mohammed Almuqbil,1– 3 Fatimah Yaseen Alshaikh,4 Waleed Altwaijri,1– 3 Duaa Baarmah,5 Raid Harb Hommady,2,3 Maryam Yaseen Alshaikh,1 Fares Alammari,6 Meshal Alhussain,7 Reem Almotawa,8 Faris Alqarni,9 Amna Kashgari,1,10 Rayan Alkhodair,1,2,11 Jumanah N Alkhater,1 Lujeen Nasser Alkhater,6 Sawsan A Alharthi,11 Mada Abdulkarim Alsadi,12 Ahmed AlRumayyan1– 3 1College of Medicine, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia; 2King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard, Riyadh, Saudi Arabia; 3Division of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialist Children’s Hospital (KASCH), National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia; 4Collage of Medicine, Princess Nora University, Riyadh, Saudi Arabia; 5Department of Pediatrics, King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia; 6College of Medicine, Almaarefa University, Riyadh, Saudi Arabia; 7College of Medicine, King Khalid University, Abha, Saudi Arabia; 8Royal College of Surgeons, Dublin, Ireland; 9College of Dentistry, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; 10Department of Radiology, King Abdullah Specialist Children’s Hospital (KASCH), National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia; 11Division of Dermatology, King Abdulaziz Medical City, Riyadh, Saudi Arabia; 12Division of Otolaryngology, Head and Neck Surgery, King Abdulaziz University Hospital, Riyadh, Saudi ArabiaCorrespondence: Mohammed Almuqbil, College of medicine, King Saud bin Abdulaziz University for health Sciences (KSAU-HS), Prince Mutib Ibn Abdullah Ibn Abdulaziz, Ar Rimayah, P.O. Box 22490, MC 1940, Riyadh, 11426, Saudi Arabia, Tel +966-11-8011111 ext 53594, Email [email protected]; [email protected]: The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders.Patients and methods: A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia. This study included all patients diagnosed with NF1 using the revised NIH diagnostic criteria published in 2021 that were registered at the electronic medical records (EMR) from 2015 to 2021.Results: A total of 184 patients fulfilled the diagnostic criteria and were included in this study. The median age at diagnosis was 11 years (IQR: 4.00– 20.25). The most encountered diagnostic criteria in this study were Café-au-lait macules (85.3%), and (42.9%) were found to have two or more neurofibromas with plexiform neurofibroma being the most common subtype (23.36%), approximately (36.4%) of the patient with optic pathway glioma. Nearby (26.6%) of the patients displayed different type of tumors. Iris Lisch nodules were presented in 36.4% of patients at a median age of 12 years (IQR: 9.0– 21.8). Cardiovascular abnormality was encountered in 9.8% of the patients. Around 27.7% of the patients reported headache and 11.4% of the patient suffered from different type of epilepsy. Besides, 10.5% of the patients had intellectual disability, 33.8% suffered from communication disorders, and 4.9% patients had ADHD.Conclusion: The results of this study will enable practitioners to adopt a more holistic approach and prioritize numerous attributes, which they can subsequently incorporate into their therapeutic methodologies. Furthermore, the identification of these attributes will facilitate an expeditious and accurate diagnosis. Hence, the implementation of intervention during its nascent phase may result in a more advantageous consequence.Keywords: neurofibromatosis type 1, café-au-lait macule, glioma, neurofibromas

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