Table 2.

Recommended Evaluations Following Initial Diagnosis in Individuals with TSC

System/ConcernEvaluation
Integument Detailed dermatologic & dental exam
Renal
  • Blood pressure
  • Renal function; obtain a serum creatinine level to determine GFR.
  • MRI of abdomen to assess for angiomyolipoma & renal cysts
Central nervous system
  • Brain MRI for tubers, SENs, migrational defects, SEGAs
  • Comprehensive eval for all levels of TAND
  • Parent/caregiver education & training about TAND to ensure families are monitoring for emerging TAND manifestations 1
  • Baseline EEG while awake & asleep; if abnormal or if TAND is present: 24-hr video EEG to assess for subclinical seizure activity
  • During infancy, educate parents to recognize infantile spasms even if none have occurred at time of 1st diagnosis.
Ophthalmology Complete ophthalmologic eval, incl dilated fundoscopy to assess for retinal lesions & visual field defects
Cardiology
  • Echocardiogram in pediatric age group (esp if age <3 yrs)
  • EKG in all ages to assess for underlying conduction defects
Pulmonary
  • Baseline chest CT in all females, & in symptomatic males, starting at age 18 yrs & older
  • Baseline PFT & 6-min walk test in those w/evidence of cystic lung disease c/w LAM on screening chest CT
  • In adults, inquire about tobacco exposure, manifestations of connective tissue disease, signs of chyle leak, & other pulmonary manifestations. 2
  • Adult males, if symptomatic, should also undergo PFT.
Skin Perform detailed clinical dermatologic exam.
Teeth Perform detailed clinical dental inspection.
Other Consultation w/clinical geneticist and/or genetic counselor

CT = computed tomography; c/w = consistent with; GFR = glomerular filtration rate; PFT = pulmonary function test/ing; SEGAs = subependymal giant cell astrocytomas ; SENs = subependymal nodules; TAND = TSC-associated neuropsychiatric disorder

1.

For example, signs and symptoms of autism spectrum, language, attention-deficit/hyperactivity and anxiety disorders

2.

Including dyspnea, cough, and spontaneous pneumothorax

From: Tuberous Sclerosis Complex

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