Tuberous sclerosis (Bourneville’s or Pringle’s disease)

Published on 02/04/2015 by admin

Filed under Internal Medicine

Last modified 02/04/2015

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200 Tuberous sclerosis (Bourneville’s or Pringle’s disease)

Instruction

Look at this patient who has a history of seizures and mental retardation.

Salient features

History

• Family history (autosomal dominant inheritance with variable penetrance)

• Seizures

• Psychomotor retardation in childhood

• Reddened nodules (adenoma sebaceum) on the face since childhood.

Examination

• Angiofibromas (adenoma sebaceum) distributed in a butterfly pattern over the cheeks (Fig. 200.1), chin and forehead

• Shagreen patches: leathery thickenings in localized patches over the lumbosacral region

• Ash-leaf patches: hypopigmented areas (Fig. 200.2)

• Subungual fibromas (Fig. 200.3)

• Examine the fundus (retinal glial hamartomas).

image

Fig. 200.1 Tuberous sclerosis: angiofibromas in a butterfly pattern over the cheeks, chin and forehead.

image

Fig. 200.2 Hypopigmented macules (ash-leaf pattern).

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Fig. 200.3 Subungual fibromas.

Diagnosis

This patient has adenoma sebaceum (lesions) caused by tuberous sclerosis. I would like to know his IQ and elicit a history of seizures to determine his functional status.

Advanced-level questions

What other lesions may be present?

• Hamartomas within the CNS occurring as cortical tubers and subependymal hamartomas

• Renal angiomyolipomas

• Cardiac rhabdomyomas and pulmonary myomas

• Cysts in the liver, kidney and pancreas.

Give some examples of the appearance of clinical manifestations at distinct developmental points

• Hypopigmented macules (formerly known as ash-leaf spots) are usually detected in infancy or early childhood.

• Shagreen patch is identified with increasing frequency after the age of 5 years.

• Ungual fibromas characteristically appear after puberty and may develop in adulthood.

• Facial angiofibromas (formerly called adenoma sebaceum) may be detected at any age but are generally more common in late childhood or adolescence.

• Cortical tubers and cardiac rhabdomyomas form are typical findings in infancy because they form during embryogenesis.

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