NEUROCUTANEOUS SYNDROMES Flashcards

1
Q

What is the inheritance pattern of neurofibromatosis type 1?

A

Autosomal dominant

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2
Q

What is the incidence of live births affected by neurofibromatosis type 1?

A

1 in 4000

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3
Q

What proportion of individuals affected by neurofibromatosis type 1 are the result of a new mutation?

A

50%

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4
Q

What chromosome is the mutation for neurofibromatosis type 1 found on?

A

Chromosome 17

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5
Q

What are the clinical features of neurofibromatosis type 1?

A

Cafe au lait patches - must be at least 6 for diagnosis

Lisch nodules (pigmented hamartomas on the eye)

Optic gliomas

Neurofibromas on the peripheral nerves (may be palpable)

Tumours of the CNS (benign or malignant)

Epilepsy

Learning difficulties - ADHD, speech and language, Asperger’s

Scoliosis

Pheochromocytoma

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6
Q

How do we manage children with neurofibromatosis type 1?

A

Monitored each year for growths. Surgical removal of tumors is an option, however the risks involved should be assessed first.

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7
Q

What is the characteristic features of neurofibromatosis type 2, which is rarely a feature of neurofibromatosis type 1?

A

Bilateral acoustic neuroma (tumours in the region of the VIIIth cranial nerve)

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8
Q

What is the inheritance pattern of tuberous sclerosis?

A

Autosomal dominant, although up to 75% of cases represent new mutations.

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9
Q

What are the classic clinical features of tuberous sclerosis?

A

Seizures

Mental retardation

Facial angofibromas, also called adenoma sebaceum (often in a butterfly distribution across the face)

Hypopigmented macules called ash leaf spots

Shagreen patches (roughened patches of skin over spine)

Widespread tumours distributed across many organs

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10
Q

Which organs are classically affected by benign tumours and cysts in tuberous sclerosis?

A

Skin

Brain and eyes

Kidney

Heart

Lungs

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11
Q

What is the best way to examine ash leaf spots (the hypopigmented macules seen in tuberous sclerosis)?

A

Best seen with a Wood’s light

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12
Q

What are the clinical features of Sturge-Weber?

A

Unilateral facial naevus (port wine stain) in distribution of trigeminal nerve

Seizures - caused by angiomas involving the leptomeningeal vessels in the brain

Haemangiomas of the spinal cord

Glaucoma

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13
Q

What is classically seen on brain imaging of a person with Sturge-Weber syndrome?

A

Unilateral intracranial calcification with a double contour like railway line and cortical atrophy

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