Skip to main content

Table 2 General clinical presentation – heart, brain, skin, eye and kidney involvement - and family history

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   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