Table 2

Findings on examination and results of investigations

Number of cases evaluated and number (%) with specified finding*
Evaluation/finding0–4 years5–18 yearsWhole sample
General examination92*35*124*
 Facial angiofibromas15 (16%)10 (29%)24 (19%)
 Forehead or scalp plaque12 (13%)3 (9%)15 (12%)
 Hypopigmented macules, ≥357 (62%)25 (71%)80 (65%)
 Shagreen patch21 (23%)9 (26%)30 (24%)
 Ungual fibroma1 (1%)2 (6%)3 (2%)
 Any of above65 (71%)26 (74%)89 (72%)
 Hypopigmented macules, 1–216 (17%)2 (6%)17 (14%)
 Any of above75 (82%)28 (80%)100 (81%)
Eye examination26430
 Retinal hamartoma10 (38%)2 (50%)12 (40%)
ECG30737
 Abnormal6 (20%)06 (16%)
Echocardiography771188
 Cardiac rhabdomyoma(s)47 (61%)4 (36%)51 (58%)
Renal ultrasound scan86*24*107*
 PKD3 (3%)03 (3%)
 Renal cysts, not PKD7 (8%)07 (7%)
 Angiomyolipomas8 (9%)6 (25%)13 (12%)
 Any of above15 (17%)6 (25%)20 (19%)
Cranial CT scan§28735
 Cortical tuber11 (39%)3 (43%)14 (40%)
 Subependymal nodule19 (68%)5 (71%)24 (69%)
 SEGA000
 Any of above24 (86%)5 (71%)29 (83%)
Cranial MRI scan89*19*104*
 Cortical tuber81 (91%)16 (84%)93 (89%)
 Subependymal nodule68 (76%)12 (63%)76 (73%)
 SEGA1 (1%)4 (21%)5 (5%)
 Any of above82 (92%)17 (89%)95 (91%)
  • * For cases repeatedly evaluated, number with specified finding on at least one occasion (so finding may have been absent when the same evaluation was carried out at a younger age). Where subjects were evaluated in both age intervals, the number in the last column is not equal to the sum of the first two columns.

  • Arrhythmias and in one case left ventricular hypertrophy.

  • Does not include two cases with scans in early infancy reported as showing multiple echogenic lesions but with subsequent normal scans.

  • § Only 11% of CT scans were available for review so these data are largely based on reported findings.

  • 78% of MRI scans were independently reviewed for the study.

  • PKD, polycystic kidney disease; SEGA, subependymal giant cell astrocytoma.