Neurofibromatosis in Children as Seen in the University of Port Harcourt Teaching Hospital

ABSTRACT

Background: Neurofibromatosis (NF) is transmitted as an autosomal dominant trait but 50of new cases appear because of mutation. The disease can be confounded by a broad spectrum of complications; such as various kinds of osseous lesions; stenosis of the renal arteries; optic glioma; and learning disabilities and disfigurement. Aim: To determine the prevalence; pattern of presentation and outcome of neurofibromatosis in children in the University of Port Harcourt Teaching Hospital. Method: This was a prospective study done from 1st June 2004 to 30th May 2009. All the children who presented with neurofibromatosis over the 5- year period were studied. Data collected included age; sex; and reasons for presentation. Definitive diagnosis was made using the National Institute of Health Diagnostic Criteria. Data was entered into excel and analyzed using SPSS. Simple statistics; frequency and percentages were used. Results: The total number of children seen over the period of study was 12;443 children. Out of these; 18(0.19) had neurofibromatosis. All (100) had the type 1 variety. None had type 2 variety. The patients' ages ranged between 5 and 16 years. There was a positive family history in 13 (72.2) of them. All the patients had cafe au- lait spots. Clinically the predominant forms of the neurofibromas were cutaneous 15(83.3); subcutaneous 10(55.6); and plexiform 5(27.8). None of the patients died. Five cases with huge masses causing pain and disfigurement had surgical intervention. Conclusion: Neurofibromatosis is not rare in this environment. This neurocutaneous inherited genetic disorder is a common cause of morbidity. Multidisciplinary management reduces the disease burden borne by affected individuals