RESULTS
A total of 38 cases of neurofibromatosis were documented in records,
during the 10-year period, of which 4 cases were excluded from analysis
after reviewing their clinical case files. These four cases comprised 2
males and 2 females. Firstly, a 7-month-old female was excluded, based
on clinical features of Sturge-weber syndrome associated with unilateral
lid swelling from a huge capillary haemangioma, rather than a plexiform
neurofibroma. Another 14-month-old female had café au laît skin patches
but was excluded when a review of the clinical documentation showed a
diagnosis of tuberous sclerosis rather than neurofibromatosis. The third
patient excluded, was a 14-month-old male, with a large hypertrophic
unilateral facial patch and bony dysplasia initially thought to
represent neurofibromatosis, but later diagnosed as Proteus syndrome.
Finally, a 58-year-old man documented to have NF1, was excluded for lack
of documentation of the diagnostic criteria used and lack of
documentation recording ophthalmic assessment or neuro-radiological
investigation. The prevalence of NIH diagnostic criteria observed, in
the remaining 34 cases, which were included in this study, are shown in
Figure 1. All cases in this study had features consistent with NF1.
The 34 cases included in this study comprised 19 males (55.9%) and ages
ranging from 18 months – 60 years, with a median age of 15 years, an
interquartile range of 19.5 years and the most frequent age at
presentation (or diagnosis) was 15 years. The male to female ratio was
1.3:1 (p= 0.35) with approximately 35.3% (12 patients) within the
paediatric age group (14 years and below), according to our hospital
policy. Presenting visual acuity ranged from Snellen acuity of 6/4 in
the better eye to no light perception (NLP) in the worse eye. Although,
only one patient presented with poor vision of hand motion (HM) in the
better eye, up to a third of patients (33.3%) presented with poor
vision < 6/60 in the affected eye. All patients were
diagnosed with NF 1, based on the NIH diagnostic criteria.