Station 3.26: Tuberous sclerosis

Question 1

clinical signs

What are the clinical signs of Tuberous sclerosis?

Tuberous sclerosis

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

Answer 1

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

Respiratory
* Cystic lung disease

Abdominal
* Renal enlargement caused by polycystic kidneys and/or renal angiomyolipomata
* Transplanted kidney
* Dialysis fistulae

Eyes
* Retinal phakomas (dense white patches) in 50%

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

Question 2

Discussion

Discussion of Tuberous sclerosis?

Tuberous sclerosis

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

Answer 2

• 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 3

Discussion - Renal manifestations

Discussion Renal manifestations of Tuberous sclerosis?

Tuberous sclerosis

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

Answer 3

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

Question 4

Discussion - Investigation

What Investigations would you prescribe for Tuberous sclerosis?

Tuberous sclerosis

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

Answer 4

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

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