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Year Two - Neurology System > Neurofibromatosis > Flashcards

Neurofibromatosis Flashcards

1
Q

What is neurofibromatosis?

A

It is defined as an inherited condition, in which neuromas develop throughout the nervous system

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2
Q

What are neuromas?

A

They are defined as nerve tumours

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3
Q

What is the inheritance of neurofibromatosis?

A

Autosomal dominant

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4
Q

Are the neuromas associated with neurofibromatosis benign or malignant?

A

Benign

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5
Q

What are the two classifications of neurofibromatosis?

A

Neurofibromatosis type I

Neurofibromatosis type II

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6
Q

What is the most common neurofibromatosis classification?

A

Neurofibromatosis type I

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7
Q

What is another term for neurofibromatosis type I?

A

Von Recklinghausen’s syndrome

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8
Q

What genetic mutation causes neurofibromatosis type I? What chromosome is this gene located on?

A

Neurofibromin gene

Chromosome 17

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9
Q

What is neurofibromin?

A

A tumour suppressor protein

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10
Q

What is neurofibromatosis type I?

A

It is a condition in which there is development of neoplastic lesions in the pituitary gland, parathyroid gland and pancreas

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11
Q

What are the ten clinical features associated with neurofibromatosis type I?

A

Café-Au-Lait Spots

Axillary/Groin Freckles

Bony Dysplasia

Iris Hamartomas

Neurofibromas

Glioma of Optic Nerve

Scoliosis

Phaeochromocytoma

Peptic Ulceration

Galactorrhoea

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12
Q

What are cafe-au-lait spots?

A

They are defined as flat light brown patches of skin

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13
Q

What two forms of bony dysplasia are associated with neurofibromatosis type I?

A

Long bone bowing

Sphenoid wing dysplasia

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14
Q

What are iris hamartomas?

A

They are defined as yellow brown spots located on the iris

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15
Q

What type of iris hamartomas are most commonly associated with neurofibromatosis type I?

A

Lisch nodules

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16
Q

How do we diagnose neurofibromatosis type I?

A

Clinically

No investigations are required to obtain a definitive diagnosis

17
Q

What electrolyte imbalance is associated with neurofibromatosis type I?

A

Hypercalcaemia

18
Q

What are the clinical criteria required to obtain a diagnosis of neurofibromatosis type I?

A

A diagnosis of neurofibromatosis can be obtained in cases where two of the following criteria are met…

Café-Au-Lait Spots > 6 (> 5mm In Children OR > 15mm In Adults)

Relative With Neurofibromatosis Type I

Bony Dysplasia

Iris Hamartomas > 2

Neurofibromas > 2

Glioma of Optic Nerve

19
Q

How do we manage neurofibromatosis type I?

A

It involves providing symptomatic control, monitoring disease progression and complication treatment

There is no management options available to treat the underlying disease process or slow down the progression of disease

20
Q

What are the ten complications associated with neurofibromatosis type I?

A

Malignant Peripheral Nerve Sheath Tumours

Brain Tumours

Spinal Cord Tumours

Spine Scoliosis

Migraines

Epilepsy

Vision Loss

Gastrointestinal Stromal Tumour

Renal Artery Stenosis

Leukaemia

21
Q

What is Zollinger-Ellison syndrome?

A

It is a condition in which there is increased levels of gastricn, usually from a gastrin secreting tumour of the duodenum or pancreas

22
Q

What neurofibromatosis classification is Zollinger-Ellison syndrome associated with?

A

Neurofibromatosis type I

23
Q

What are the three clinical features of Zollinger-Ellison syndrome?

A

Duodenal ulceration

Diarrhoea

Malabsorption

24
Q

What are the two investigations used to diagnose Zollinger-Ellison syndrome?

A

Fasting gastrin blood test

Secretin stimulation test

25
Q

What genetic mutation causes neurofibromatosis type II? What chromosome is this gene located on?

A

Merlin gene

Chromosome 22

26
Q

What is merlin?

A

A tumour suppressor protein, which is particularly important in Schwann cells

27
Q

What neuroma type is associated with neurofibromatosis type II?

A

Bilateral vestibular schwannomas

28
Q

What is another term for vestibular schwannomas?

A

Acoustic neuromas

29
Q

What is a vestibular schwannoma?

A

A tumour of the auditory nerve innervating the inner ear

30
Q

What are the three clinical features of neurofibromatosis type II?

A

Hearing Loss

Tinnitus

Balance Problems

31
Q

How do we manage neurofibromatosis type II?

A

It involves surgical resection of the vestibular schwannomas

32
Q

What is a risk of vestibular schwannoma resection?

A

Permanent auditory nerve damage

33
Q

What are the two complications associated with neurofibromatosis type II?

A

Brain Tumours

Spinal Cord Tumours

Year Two - Neurology System (25 decks)

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