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Clinical presentation of neurofibromatosis in indigenous black Africans: Evidence for multidisciplinary team approach to diagnosis and management with emphasis on Ophthalmological perspective.
  • Olufunmilola OGUN,
  • Olusegun A Adediran,
  • Gabriel Ogun
Olufunmilola OGUN
University of Ibadan College of Medicine
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Olusegun A Adediran
University College Hospital Ibadan
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Gabriel Ogun
University of Ibadan College of Medicine
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Abstract

Aim- To describe the pattern of clinical presentation of patients with neurofibromatosis in a homogeneous black African population with emphasis on ophthalmological presentation in a multidisciplinary management setting. Methods- Ophthalmology clinic records from the Department of Ophthalmology and database of the Department of Pathology, both of University College Hopsital, Ibadan, Nigeria were reviewed for cases of neurofibromatosis over a 10-year period (Jan 2010 and Dec 2019). Relevant demographic, clinical information, management, complications and patient follow up were extracted from the records and entered into a spreadsheet and analysed. Results - The 34 cases included in this study comprised 19 males (55.9%) and age ranged from 18 months – 60 years, with a median age of 15 years. The male to female ratio was 1.3:1 with approximately 35.3% (12 patients) in the paediatric age group. The most frequent reason for consultation was unilateral progressive painless lid swelling (plexiform neurofibroma) often associated with ptosis. There was a positive family history of neurofibromatosis in 9 out of 32 cases (28.1%). Café au laît macules were observed in 22 out of 25 (88%) of cases. Typical neurofibromas were present in 84.8% of the patients. There was no significant difference in prevalence of plexiform neurofibromas with age (p= 0.05) or sex (p= 0.79). Bone and joint abnormalities was present in 17.6% of the patients. Ophthalmic examination showed conjunctiva changes in 3 cases, prominent cornea nerves in 2 cases. Iris lisch nodules was present in 75.9% of cases that had documentation, cataract in 2 cases and optic atrophy in 6cases.Three patients had ophthalmic pathway gliomas. Patients were managed by multidisciplinary teams depending on their needs. Conclusion- Multidisciplinary team management is advocated because of the multi-system disorders these patient have and the need for holistic, patient centred care that is of good quality, and sustainable.

Peer review status:IN REVISION

20 Jan 2021Submitted to International Journal of Clinical Practice
21 Jan 2021Assigned to Editor
21 Jan 2021Submission Checks Completed
10 Jun 2021Reviewer(s) Assigned
24 Jul 2021Review(s) Completed, Editorial Evaluation Pending
12 Sep 2021Editorial Decision: Revise Major