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