Clinical and Therapeutic Features of Neurofibromatosis in Ghana

Introduction. Neurofibromatosis (NF) is a generalized form of benign tumors of the peripheral nerves involving the skin; subcutaneous tissue; and bone. It comprises neurofibromatosis type 1 (NF-1); neurofibromatosis type 2 (NF-2); and schwannomatosis. Objective. To document the clinical and epidemiological features of patients with NF presenting at Komfo Anokye Teaching Hospital (KATH) in Kumasi; Ghana; from January 2009 to December 2013; and the outcome of management. Patients and methods. This is a retrospective study. Data on all patients managed within the study period were retrieved from the records of the surgical outpatient department (SOPD) of KATH and theater records and analyzed. Results. Fifteen patients underwent surgery for function impairing and disfiguring lesions; comprising five males and 10 females. Their ages ranged from three years to 55 years; with a mean age of 27.3 years. Seventeen lesions were found on the 15 patients that required surgery: 10 on the head and neck; three on the trunk; two on the upper limbs; and two on the lower limbs. Three of the lesions were neurofibromas; 14 were plexiform lesions. Fourteen patients had NF-1; only one patient had NF-2; there were no cases of schwannomatosis. Debulking was done for 12 patients; this was combined with suspension in two cases and enucleation in one case. Excision was done for five patients. Eight of the lesions recurred and the patients underwent a second debulking procedure. Conclusion. NF causes disfigurement and functional deficits in affected patients. Surgery can achieve symptomatic relief. Early presentation is recommended for optimal results

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

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

Neurinomes et neurofibromes spinaux diagnostic et resultats du traitement chirurgical a Yaounde

Description les neurinomes et neurofibromes spinaux restent très peu étudiés en Afrique sub-saharienne. Objectif rapporter les résultats du traitement chirurgical des neurinomes et neurofibromes spinaux à Yaoundé. Méthodes étude rétrospective menée à l'Hôpital Général et à l'Hôpital Central de Yaoundé, du 1er Janvier 1995 au 1er Janvier 2005. Critères d'inclusion: dossier médical comprenant les résultats de l'examen clinique pré et post opératoire, ceux des examens neuroradiologiques et histopathologiques, le compte rendu opératoire. Un suivi post-opératoire minimal de six mois. Le résultat fonctionnel été évaluée par l'échelle de Karnofsky. Résultats sur 62 patients opérés d'une tumeur intrarachidiennes, 12 (19,35 %) ont été sélectionnés (neuf neurinomes, deux neurofibromes, un neurofibrosarcome). L'age moyen était de 40,66 ans ±13,20, le sex ratio 0,71. La durée moyenne de symptômes avant le diagnostic était de 17,83 mois ± 5,81, extrêmes 6 et 28 mois ; le signe d'appel le plus fréquent était la radiculalgie (six cas). Cinq patients étaient paraplégiques. Le score de Karnofsky moyen préopératoire était de 50,00 ±12,79 et de 70,83±23,53 en postopératoire. Le siège tumoral était cervical (quatre cas), dorsal (six cas), lombaire (deux cas). La tumeur était extradurale dans six cas, intra durale quatre, intra et extradurale deux cas. L'exérèse était macroscopiquement complète dans neuf cas, partielle dans trois. Cinq patients ont connu une amélioration permettant une réinsertion professionnelle. Conclusion le diagnostic des neurinomes et neurofibromes reste tardif dans notre environnement, ce qui limite le résultat chirurgical