NEUROCUTANEOUS SYNDROMES: EVALUATION OF CLINICAL AND NEURORADIOLOGICAL FINDINGS

Abstract

OBJECTIVE: Neurofibromatosis type I (NF1), Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are the most common neurocutaneous syndromes. The purpose of this study is to evaluate the clinical and neuroradiological manifestations of patients diagnosed with NF1, TSC, and SWS.MATERIAL AND METHODS: In our clinic, records of 15 patients with NF1, TSC, and SWS were retrospectively reviewed between December 2017 and May 2019. Clinical and neuroradiological manifestations of patients were detailed.RESULTS: 15 patients consisting of 9 NF1, 5 TSC, and 1 SWS were determined between the ages of 9 days and 13,83 years (5 females and 10 males). All NF1 patients had café-au-lait spots. One (11.1%) with lisch nodules, one (11.1%) with optic glioma, one (11.1%) with epilepsy, two (22.2%) with macrocephaly, two (22.2%) with hydrocephalus, one (11.1%) with optic glioma and seven (77.7%) with family history were established. All TSC patients had hypomelanotic macules and epilepsy. It was indicated cardiac rhabdomyoma in 3 (60%) patients, angiomyolipoma in one (20%) patient and polycystic kidney in one (20%) patient. The patient with SWS was showed available of facial angioma, glaucoma, and epilepsy. It was pointed UBOs (unknown bright objects) with 6 (66.6%) patients, 2 (22.2%) patients with hydrocephalus, one (11.1%) patient with subependymal nodule and one (11.1%) patient with optic glioma in NF1 patients. Brain magnetic resonance imaging of all TSC patients showed cortical/subcortical tubers and two patients with subependymal nodules. Cortical and parenchymal atrophy and calcification were presented in cranial computed tomography of the patient with SWS.CONCLUSIONS: Clinical and neuroradiological manifestations of neurocutaneous syndrome are guidance for diagnosis so that detailed examination and neuroradiological perspective on neurocutaneous diseases will provide convenience in diagnosis and follow-up.