TABLE 5.
Missed Earlier Symptoms and Signs of TSC in Patients Diagnosed in Adulthood (N = 30)
| Patient | FHa | Szb | ISc | CTd | SENe | SGCT | AFf | HPMg | PUFh | SPi | FPj | AMLk | RCl | LAMm | MMPHn | RHo | DPp | STq | Total Missed Symptoms/Signs |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A | — | — | — | — | — | — | 1 | — | — | — | — | — | — | — | — | — | — | — | 1 |
| B | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 0 |
| C | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 0 |
| D | 1 | 1 | — | — | — | — | — | — | — | — | 1 | — | — | — | — | — | — | — | 3 |
| E | — | 1 | — | — | — | — | — | — | — | — | — | 1 | — | — | — | — | — | — | 2 |
| F | 1 | — | — | — | — | — | — | — | — | 1 | — | 1 | 1 | — | — | — | — | 1 | 5 |
| G | — | — | — | — | — | — | — | — | 1 | — | — | — | — | — | — | — | — | — | 1 |
| H | — | 1 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 1 |
| I | 1 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 1 |
| J | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 0 |
| K | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 0 |
| L | — | 1 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 1 |
| M | 1 | — | — | — | — | — | — | — | — | 1 | — | — | — | — | — | — | — | — | 2 |
| N | 1 | 1 | — | — | — | — | — | 1 | — | — | — | — | — | — | — | 1 | — | — | 4 |
| O | 1 | 1 | — | 1 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 3 |
| P | — | — | — | — | — | — | 1 | — | — | — | — | — | — | — | — | — | — | — | 1 |
| Q | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 0 |
| R | — | — | — | — | — | — | — | — | — | — | — | 1 | — | 1 | — | — | — | — | 2 |
| S | 1 | — | — | 1 | 1 | — | — | — | 1 | — | — | — | — | — | — | — | — | — | 4 |
| T | — | — | — | — | — | 1 | — | — | — | — | — | — | — | — | 1 | — | — | — | 2 |
| U | — | 1 | 1 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 2 |
| V | — | 1 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 1 |
| W | — | 1 | — | — | — | — | 1 | 1 | — | — | — | — | — | — | — | — | — | — | 3 |
| X | — | 1 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 1 |
| Y | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 0 |
| Z | 1 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 1 |
| AA | 1 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 1 |
| BB | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 1 | — | 1 |
| CC | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 0 |
| DD | — | 1 | — | — | — | — | 1 | — | — | — | — | — | — | — | — | — | — | — | 2 |
| Total | 9 | 11 | 1 | 2 | 1 | 1 | 4 | 2 | 2 | 2 | 1 | 3 | 1 | 1 | 1 | 1 | 1 | 1 |
“1” indicates presence of symptom or sign.
a
Family history of TSC or family with symptoms of TSC.
b
Seizures (not including infantile spasms).
c
Infantile spasms.
d
Cortical tuber(s).
e
Subependymal nodule(s).
f
Facial angiofibromas.
g
Hypopigmented macules.
h
Periungal fibroma(s).
i
Shagreen patch.
j
Forehead plaque.
k
Renal angiomyolipoma(s).
l
Renal cyst(s).
m
Lymphangioleiomyomatosis.
n
Multifocal micronodular pneumocyte hyperplasia.
o
Retinal hamartoma(s).
p
Dental pits.
q
Supraventricular trachycardia.