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Table 1 Evaluations for TSC diagnosis

From: Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation

Organ system Diagnostic evaluations Findings
Brain Brain MRI Multiple cortical tubers, subependymal nodules and a SEGA
  EEG Runs of spikes in right fronto-polar region
  DDST-II Delayed development in areas of fine motor-adaptive, personal-social, and language skills by 25 months on average
  WPPSI-III Could not get a score in any subtest
  CARS 35.5
  SMS Social age: 22 months
Social quotient: 49.8
  Speech and language evaluation Delayed by 27 months in receptive and expressive language
Eyes Complete ophthalmologic evaluation including dilated fundoscopy Unremarkable
Teeth Detailed dental exam Unremarkable
Skin Detailed skin exam Scattered hypopigmented lesions
Heart Ultrasonography Small muscular ventricular septal defect (VSD) in the middle portion of the interventricular septum (IVS), No rhabdomyoma
  ECG Normal
Lung HRCT of chest No lymphangioleiomyomatosis (LAM)
Kidney Blood pressure Normal
  Abdominal MRI No angiomyolipoma or renal cyst
  GFR test Normal