title: Clinical and Para clinical Manifestations of Tuberous Sclerosis: A Cross Sectional Study on 81 Pediatric Patients.
abstract: OBJECTIVE
  Tuberous sclerosis complex is an autosomal dominant neurocutaneous disease that presents with dermatological, neurological, cardiac, renal and ocular symptoms. We described the variable clinical manifestations, neuroimaging findings, Age and sex distribution of tuberous sclerosis in a group of 81 patients referred to our clinic.
  
  
  METHODS
  Based on the diagnostic criteria, totally 81 tuberous sclerosis patients with sufficient data were enrolled into the study. These children were referred by child neurologists.
  
  
  RESULTS
  The mean age of the patients was 52 months (range, 7-180 months). There were 28 girls and 53 boys. A positive familial history of TSC was seen in 29.6% of the patients. Hypo pigmented macules were the most common manifestation (82.7%). Facial angiofibroma, shagreen patches, café-au-lait lesions and seizure were observed in 32.1%, 12.3%, 7.4%. and 74.1% of the studied cases, respectively. Infantile spasm was present in the clinical course of 32.1 % of the patients. Cortical tubers were the most common MRI finding which were seen in 21 cases (25.9%). Subepandymal giant cell astrocytoma was seen in four (4.9%) patients and intracranial calcification (detected by CT scan) was observed in 18 (22.2%) of the patients.
  
  
  CONCLUSIONS
  Dermatological and neurological findings were the most common symptoms in tuberous sclerosis with a significant correlation between them. Thus, careful skin examination is necessary in epileptic patients for detection of the mentioned lesions.
authors.affiliation: Associate Professor of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Seyyed Hassan
authors.initials: SH
authors.lastname: Tonekaboni
authors.affiliation: Associate Professor of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Seyyed Hassan
authors.initials: SH
authors.lastname: Tonekaboni
authors.affiliation: Professor of Dermatology, Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Parviz
authors.initials: P
authors.lastname: Tousi
authors.affiliation: Assistant Professor of Molecular Genetic, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Ebrahimi
authors.affiliation: Fellowship of Pediatric Neurology, Assistant Professor of Pediatrics, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Farzad
authors.initials: F
authors.lastname: Ahmadabadi
authors.affiliation: Associate Professor of Pediatric Neurology, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Zarrintaj
authors.initials: Z
authors.lastname: Keyhanidoust
authors.affiliation: Assistant Professor of Pediatric Neurology, Children's Medical Center, Tehran University of Medical Sciences (TUMS ),Tehran, Iran.
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Zamani
authors.affiliation: Assistan Professor of Pediatric Neurology, Qum University of Medial Sciences, Qum, Iran.
authors.forename: Morteza
authors.initials: M
authors.lastname: Rezvani
authors.affiliation: Associate Professor, Department of Pediatric Neurology, Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran, Iran.
authors.forename: Susan
authors.initials: S
authors.lastname: Amirsalari
authors.affiliation: Assistant Professor of Pediatric Neurology, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Azita
authors.initials: A
authors.lastname: Tavassoli
authors.affiliation: Assistant Professor of Pediatric Neurology, Alborz University of Medical Sciences, Karaj, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Rounagh
authors.affiliation: Fellowship of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Rezayi
keywords: Epilepsy; Neurologic manifestations; Pediatrics; Tuberous sclerosis