Introduction: Neurofibromatosis type 1 (NF1) is a frequent genetic disorder of autosomal-dominant pattern. The incidence is about 1 per 3000 live births. Patients with NF1 are predisposed to malignancies including soft tissue sarcomas and leukaemias. The aim of the study was assessment of the most frequent symptoms on the basis of long term observation of children with NF1 and presentation of implemented diagnostic and therapeutic procedures.
Material and methods: In our department there are 149 children (71 boys and 78 girls) aged from 7 months to 18 yrs with diagnosed or suspected NF1. Each child is carefully followed up every 6 months on outpatient basis. Paediatric, neurological and opthalmological examinations are performed during the first visit and in cases of any new symptoms. Number of Lisch nodules, vision field, audiogram, dermatological evaluation of skin abnormalities as well as orthopaedic examination are also investigated. In any case of NF1 without neurological symptoms, MRI of the brain and spine is carried out every 2 years. Moreover, each child is consulted in the Genetic Clinic.
Results: Cafe-au-lait spots were observed in all 149 children, freckling of the armpits in 40, peripheral neurofibromas in 30, Lisch nodules in 2 patients. Secondary symptoms and complications such as mental retardation (9 cases) and epilepsy (10 cases), cognitive disorders and learning disabilities (21), abnormalities in MRI examination (53), benign or malignant CNS tumours (9), scoliosis (99) were diagnosed. In 5 patients malignant neoplasms occurred (3.4%) including: RMS--2 cases, Triton tumour--1 case, MPNST--1 case. Two children died of disease progression, one of treatment complications (sepsis) and two children are alive.
Conclusions: 1. Patients with NF1 need regular specialist medical care. 2. Continuous education of the families with this disease is necessary. 3. Diagnostic and therapeutic procedures recommended for patients with NF1 need to be implemented at different levels of health care.