Clinical presentation of neurofibromatosis in indigenous black Africans:
Evidence for multidisciplinary team approach to diagnosis and management
with emphasis on Ophthalmological perspective.
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.