Diagnostic and Surveillance Screening

SUGGESTED ROUTINE DIAGNOSTIC AND SURVEILLANCE SCREENING IN TSC

At the time of diagnosis, many medical tests are performed. Patients and parents should also be aware of routine testing that needs to be performed. Patients are advised to share this diagram with their physicians.

	“Asymptomatic” parent, child or first degree relative at time of diagnosis of affected individual	Suspected case or initial diagnostic evaluation
Fundoscopic Examination	+	+
Brain MRI	+b	+
Brain EEG	-	-f
Cardiac ECG and ECHO	-g	+
Renal MRI, CT or Ultrasound	+i	+
Dermatalogic screening	+	+
Neurodevelopmental Testing	-	+k
Pulmonary CT	-	-

FOR A CHILD

	Known case, no symptoms in referable organ	Known case, symptoms or findings previously documented
Fundoscopic Examination	-	+
Brain MRI	+c	+
Brain EEG	-	+e
Cardiac ECG and ECHO	-	+h
Renal MRI, CT or Ultrasound	+j	+h
Dermatalogic Screening	-	+e
Neurodevelopmental Testing	+l	+e
Pulmonary CT	-	+e

FOR AN ADULT

	Known case, no symptoms in referable organ	Known case, symptoms or findings previously documented
Fundoscopic Examination	-	+f
Brain MRI	+d	+e
Brain EEG	-	+e
Cardiac ECG and ECHO	-	+e
Renal MRI, CT or Ultrasound	+c	+ h
Dermatalogic Screening	-	+e
Neurodevelopmental Testing	-	+e
Pulmonary CT	+m	+e

KEY:
MRI is magnetic resonance screening; EEG is electroencephalogram; ECG is electrocardiogram; ECHO is echocardiogram; and CT is computed tomography.

+ indicates screening recommended; - indicates screening not recommended b With negative physical examination results, CT is recommended.
c Every 1 to 3 years.
d Probably less frequently than in children.
e As clinically indicated.
f Unless seizures are suspected, this is generally not useful for diagnosis.
g Unless needed for diagnosis.
h Every 6 months to 1 year until involution or size stabilization occurs.
i Ultrasound is generally recommended due to cost, although local imaging expertise may vary.
j Every 3 years until adolescence.
k Generally for children only.
l Recommended for children at the time of beginning first grade.
m For women at age 18.

REFERENCES:
--Roach, E.S., DiMario F.J., Kandt R.S., & Northrup H. (1998). Tuberous sclerosis consensus conference: Recommendations for diagnostic evaluation. Journal of Child Neurology, 14 (6), 401-407.
--Roach, E.S., Gomez M.R., & Northrup H. (1998). Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. Journal of Child Neurology, 13, 624-628.