[Common clinical aspects of tuberous sclerosis and neurofibromatosis in Mashhad]

ABSTRACT

Since CNS is derived from ectoderm during the fetal period, there are some common congenital or hereditary conditions that affect both the skin and nervous systems. Such conditions are traditionally called neurocutaneous disorders or phakomatosis.In this study, we have reviewed the most common clinical features and paraclinical findings in neurofibromatosis [NF] and tuberous sclerosis. In this cross sectional study, 50 patients with tuberous sclerosis or NF were chosen among all the patients who referred to the neurological clinic of Shahrivar 17th Hospital during a ten-month period. They were physically examined to detect any suspicion of neuroectodermal syndromes employing paraclinic exams like CT scan, MRI and EEG. Information about patients' familial history, age, sex, clinical and paraclinical findings was collected to fill out the questionnaires. Finally, the data were analyzed with SPSS and SAS soft wares. 80% of our patients had NF. The ratio of males to females was calculated as 1.1. The average age for the emergence of the disease was 7.8 years old for tuberous sclerosis, 11.3 years old for NF1 and 59 years old for our only case of NF2. The most common manifestation of these syndromes was Cutaneus Lesions [88.9% in tuberous sclerosis and 100% in NF]. Seizure and mental retardation were also common features in tuberous sclerosis with frequencies of 88.9% and 75%, respectively. Paraclinical studies were helpful in diagnosing the 50% of tuberous sclerosis and the8.7% of neurofibromatosis cases. Clinical and paraclinical manifestations of neurocutaneous disorders in this study are similar to other studies in the world