Tuberous Sclerosis

Question 1

Tuberous Sclerosis

Answer 1

This patient has had a first seizure recently. Please examine them as you wish. What is the diagnosis?

Question 2

Clinical signs of Tuberous sclerosis

Answer 2

1. Skin changes
2. Respiratory
3. Abdominal
4. Eyes
5. CNS

Question 3

Clinical signs: Skin changes

Answer 3

1. Facial (perinasal: butterfly distribution) adenoma sebaceum (angiofibromata)
2. Periungual fibromas (hands and feet)
3. Shagreen patch: roughened, leathery skin over the lumbar region
4. Ash leaf macules: depigmented macules on trunk (fluoresce with UV/Wood’s light)

Question 4

Clinical signs: Respiratory

Answer 4

• Cystic lung disease

Question 5

Clinical signs: Abdominal

Answer 5

1. Renal enlargement caused by polycystic kidneys and/or renal angiomyolipomata
2. Transplanted kidney
3. Dialysis fistulae

Question 6

Clinical Signs: Eyes

Answer 6

• Retinal phakomas (dense white patches) in 50%

Question 7

Clinical signs: CNS

Answer 7

1. Mental retardation may occur
2. Seizures
3. Signs of anti‐epileptic treatment, e.g. phenytoin: gum hypertrophy and hirsuitism

Question 8

Mnemonic in Tuberous sclerosis

Answer 8

Previously known as EPILOIA (EPIlepsy, LOw Intelligence, Adenoma sebaceum)

Question 9

Tuberous sclerosis Mnemonic 1st Aid

Answer 9

HAMARTOMAS:
Hamartomas in CNS and skin;
Angiofibromas;
Mitral regurgitation;
Ash-leaf spots;
cardiac Rhabdomyoma;
(Tuberous sclerosis);
autOsOmal dOminant;
Mental retardation (intellectual disability);
renal Angiomyolipoma;
Seizures, Shagreen patches.

Incidence of subependymal astrocytomas and ungual fibromas.

Question 10

Discussion of Tuberous sclerosis

Answer 10

• Autosomal dominant (TSC1 on chromosome 9, TSC2 on chromosome 16) with variable penetrance
• 80% have epilepsy (majority present in childhood; but adult presentation also seen)
• Cognitive defects in 50%

Question 11

Renal manifestations in Tuberous sclerosis

Answer 11

1. Renal angiomyolipomas, renal cysts and renal cell carcinoma
2. The genes for tuberous sclerosis and ADPKD are contiguous on chromosome 16, hence some mutations lead to both conditions
3. Renal failure may result from cystic disease, or parenchymal destruction by massive angiomyolipomas

Question 12

Investigation for Tuberous sclerosis

Answer 12

1. Skull films: ‘railroad track’ calcification
2. CT/MRI head: tuberous masses in cerebral cortex (often calcify)
3. Echo and abdominal ultrasound: hamartomas and renal cysts