From: Rhabdomyomas and Tuberous sclerosis complex: our experience in 33 cases
Case n° | Cardiac signs | Neurological signs | MRI | Skin lesions | Others | Family history |
---|---|---|---|---|---|---|
1 | WPW Syndrome | West Syndrome | Cortical tubers | Hypomelanotic maculae | Retinal hamartoma Renal angiomyolipoma | Negative |
Multiple rhabdomyomas | Facial angiofibroma | |||||
2 | Heart murmur | West syndrome | Cortical tubers | Hypomelanotic maculae | No | Sister with language disorders |
Multiple rhabdomyomas | Psychomotor delay | Facial angiofibroma | ||||
3 | Heart murmur | No | Cerebral white matter radial migration lines | Hypomelanotic maculae | Retinal hamartoma | Positive for TSC |
Widened QRS | ||||||
Multiple rhabdomyomas | ||||||
4 | Multiple rhabdomyomas | West Syndrome | Cortical tubers | Hypomelanotic maculae | Retinal hamartoma | Negative |
Mental retardation | ||||||
5 | Heart murmur | No | Normal | No | No | Negative |
Cyanosis | ||||||
Multiple rhabdomyomas | ||||||
6 | Heart murmur | West syndrome | Cortical tubers | Hypomelanotic maculae | Retinal hamartoma | Negative |
Multiple rhabdomyomas | Drug resistant epilepsy | Subependymal nodules | Facial angiofibroma | |||
Psychomotor delay | Cerebral white matter radial migration lines | Forehead plaque | ||||
7 | Lobulated mass in LV | West Syndrome | Not performed | Hypomelanotic maculae | No | Negative |
8 | Multiple rhabdomyomas | Partial seizures | Cortical tubers | Hypomelanotic maculae | Retinal hamartoma | Positive |
Lennox-Gastaut syndrome | Subependymal nodules | Facial angiofibroma | ||||
Mental retardation | Subependymal giant cell astrocytoma | |||||
Behavior disorders | ||||||
9 | Lobulated mass in IVS | No | Not performed | Hypomelanotic maculae | No | Negative |
10 | Cyanosis | No | Not performed | No | No | Positive for TSC |
LV obstruction | ||||||
Multiple rhabdomyomas | ||||||
11 | Atrial ectopic beats | West syndrome | Cortical tubers | Hypomelanotic maculae | Renal cysts | Negative |
Subependymal nodules | ||||||
Multiple rhabdomyomas | Cerebral white matter radial migration lines | |||||
12 | RV overload signs | West Syndrome | Cortical tubers | Hypomelanotic maculae | No | Negative |
Multiple rhabdomyomas | Facial angiofibroma | |||||
13 | Heart failure and cyanosis | West syndrome | Subependymal nodules | Hypomelanotic maculae | No | Negative |
Atrial and ventricular ectopic beats | Behavior disorders | Subependymal giant cell astrocytoma Cerebral white matter radial migration lines | ||||
Multiple rhabdomyomas | Psychomotor delay | |||||
14 | Heart murmur | Drug resistant epilepsy | Cortical tubers | Hypomelanotic maculae | No | Negative |
Multiple thabdomyomas | Mental retardation | Subependymal nodule | ||||
15 | Heart murmur | West syndrome | Cortical tubers | Hypomelanotic maculae | Retinal hamartoma, Renal angiomyolipoma | Mother with hypomel. macula |
WPW Syndrome | Behavior and language disorders | Subependymal nodule | Facial angiofibroma | |||
Multiple rhabdomyomas | Â | Cerebral white matter radial migration lines | ||||
16 | Incomplete right bundle branch block | Partial seizures | Cortical tubers | Hypomelanotic maculae | No | Negative |
Subependymal nodule | ||||||
Multiple rhabdomyomas | ||||||
17 | Heart murmur | Partial seizures | Cortical tubers | Hypomelanotic maculae | No | Positive |
Multiple rhabdomyomas | Lennox-Gastaut syndrome | Facial angiofibroma | ||||
Mental retardation | ||||||
18 | Atrial and ventricular ectopic beats | West Syndrome | Cortical tubers | Hypomelanotic maculae | Renal angiomyolipoma | Negative |
Multiple rhabdomyomas | Facial angiofibroma | |||||
Forehead plaque | ||||||
19 | Multiple rhabdomyomas | Partial seizures | Cortical tubers | Hypomelanotic maculae | Retinal hamartoma renal angiomyolipoma | Positive |
Subependymal nodules | Facial angiofibroma | |||||
Cerebral white matter radial migration lines | ||||||
20 | Heart murmur | West syndrome | Cortical tubers | Hypomelanotic maculae | Renal cysts | Positive |
Ventricular ectopic beats | Psychomotor delay | Subependymal nodule | ||||
RV overload signs | Subependymal giant cell astrocytoma | |||||
Multiple rhabdomyomas | ||||||
21 | WPW Syndrome | Partial seizures | Cortical tubers | Hypomelanotic maculae | no | Negative |
Multiple rhabdomyomas | Behavior disorders | Subependymal nodule | ||||
22 | Heart murmur | No | Cerebral white matter radial migration lines | Hypomelanotic maculae | no | Negative |
Multiple rhabdomyomas | ||||||
23 | RV overload signs | Drug resistant epilepsy | Cerebral white matter radial migration lines | Hypomelanotic maculae | Retinal hamartoma | Negative |
Multiple rhabdomyomas | Mental retardation | Facial angiofibroma | ||||
Forehead plaque | ||||||
24 | Atrial and ventricular ectopic beats | West syndrome | Cortical tubers | Hypomelanotic maculae | No | Negative |
Multiple rhabdomyomas | Psychomotor delay | Subependymal nodules | ||||
25 | Heart murmur | No | Cortical tubers | Hypomelanotic maculae | no | Negative |
Multiple rhabdomyomas | ||||||
26 | Multiple rhabdomyomas | West syndrome | Cortical tubers | Hypomelanotic maculae Forehead plaque | Retinal hamartoma | Negative |
Subependymal nodules | ||||||
Subependymal giant cell astrocytoma | ||||||
27 | Multiple rhabdomyomas | West syndrome | Cortical tubers | Hypomelanotic maculae | Retinal hamartoma | Negative |
Drug resistant epilepsy | Subependymal nodules | Facial angiofibroma | ||||
Mental retardation | Forehead plaque | |||||
28 | Multiple rhabdomyomas | West syndrome | Cortical tubers | Hypomelanotic maculae | Retinal hamartoma | Negative |
Behavior disorders | Subependymal nodules | Facial angiofibroma | ||||
Cerebral white matter radial migration lines | ||||||
29 | Multiple rhabdomyomas | No | Cortical tubers | Hypomelanotic maculae | No | Positive |
30 | Multiple rhabdomyomas | West Syndrome | Cortical tubers | Hypomelanotic maculae | No | Positive for TSC |
Cerebral white matter radial migration lines | ||||||
31 | Heart murmur | Drug resistant epilepsy | Cortical tubers | Hypomelanotic maculae | Retinal hamartoma | Negative |
Multiple rhabdomyomas | Mental retardation | Subependymal nodules | Renal angiomyolipoma | |||
32 | Multiple rhabdomyomas | West Syndrome | Cortical tubers | Hypomelanotic maculae | No | Negative |
Mental retardation | Subependymal nodules | Facial angiofibroma | ||||
Cerebral white matter radial migration lines | ||||||
33 | Heart murmur | Lennox-Gastaut syndrome | Cortical tubers | Hypomelanotic maculae | Retinal hamartoma | Negative |
Multiple rhabdomyomas | Mental retardation | Subependymal nodules | Facial angiofibroma | |||
Cerebral white matter radial migration lines | Forehead plaque |