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YR5 Paediatrics > Neurological disease in a child: Neurocutaneous syndrome > Flashcards

Neurological disease in a child: Neurocutaneous syndrome Flashcards

1
Q

Define neurocutaneous syndrome.

A

Disorders involving ectodermal tissue that cause defects in the skin and neurological system.

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2
Q

What is Tuberous Sclerosis?

A

Multi-system disorder

Characterised by formation of hamartomas in many organs, commonly the brain, skin + kidneys

(also eyes, heart, lungs)

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3
Q

Explain the aetiology of neurocutaneous syndrome.

A

Autosomal dominant transmission 50%
de novo mutation 50%.

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4
Q

What is neurofibromatosis type 1 also known as?

A

von Recklinghausen disease

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5
Q

What is neurofibromatosis type 2 also known as?

A

Acoustic neuroma

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6
Q

What causes neurofibromatosis type 1 (NF1)?

A

Mutation on chr 17 that codes for tumour suppressor protein neurofibromin.
More common form

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7
Q

What causes NF2?

A

Mutation on Chr 22
Central form with CNS lesions rather than skin lesions

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8
Q

What mutation cause tuberous sclerosis?

A

TSC1 gene on Chr9
or
TSC2 gene on Chr16

Encode tumour suppressor protein hamartin

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9
Q

What are risk factors for neurocutaenous syndrome?

A

Family history (first-degree relatives).

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10
Q

Explain the pathophysiology of tuberous sclerosis.

A

Small benign ‘tuber-like growths’ of connective tissue

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11
Q

Summarise the epidemiology of tuberous sclerosis.

A

1/6000 live births

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12
Q

What are 7 signs and symptoms of NF1?

A

Cafe-au-lait spots (>6)

Axillary/ groin freckles

Peripheral neurofibromas

Iris hamartomas (Lisch nodules)

Scoliosis

Phaeochromocytomas

Migraines

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13
Q

What are signs and symptoms of NF2?

A

Bilateral 8th nerve masses on MRI (vestibular schwannomas): Deafness/ tinnitus

Bilateral cataracts

Multiple intracranial schwannomas, meningiomas + enendymomas:
Headache, facial weakness, cerebellar ataxia, seizures

Few cutaneous lesions.

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14
Q

How does Tuberous Sclerosis commonly present?

A

Skin changes + epilepsy (cortical tubers) in <5s

(can remain latent until adulthood)

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15
Q

Give 5 cutaneous features of tuberous sclerosis

A

‘ASH-LEAF’ spots: depigmented, fluoresce under UV

‘SHAGREEN patches’: roughened skin over lumbar spine

Angiofibromas: adenoma sebaceum butterfly distribution over nose

Subungual fibromata: fibromata beneath nails

Cafe-au-lait spots

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16
Q

Give 3 neurological features of tuberous sclerosis

A

Developmental delay
Epilepsy (Infantile spasms or partial)
Mod-severe learning disability

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17
Q

What ocular manifestation of tuberous sclerosis can occur?

A

Retinal hamartomas: dense white areas on retina (phakomata)

18
Q

What cardiac manifestation of tuberous sclerosis can occur?

A

Cardiac rhabdomyoma

19
Q

What renal manifestation of tuberous sclerosis can occur?

A

Polycystic kidneys
Renal angiomyolipomata

20
Q

What respiratory manifestation of tuberous sclerosis can occur?

A

Multiple lung cysts
(Lymphangioleiomyomatosis)

21
Q

What are appropriate investigations for NF?

A

NF1: Slit lamp examination for Lisch nodules

MRI/CT: Neurofibromas, Meningiomas

X-rays: Scoliosis, Pseudoarthrosis

Auditory testing: Acoustic neuromas

Ophthalmologic assessment in NF2: Cataracts

22
Q

What are 5 appropriate investigations for tuberous sclerosis?

A

Fundoscopy
Examine skin with Wood’s UV light
MRI brain (tubers)
ECG (arrhythmias)
Echo (cardiac rhabdomyomata)

23
Q

What is the management for NF?

A

Medical:
Monitoring BP, ophthalmology assessment, skin exam + skeletal complications.

Surgical: Laser removal of nodules, orthopaedic or neurosurgical intervention.

24
Q

What is the management for tuberous sclerosis.

A

Antiepileptic Rx, antihypertensives, neurosurgical intervention.

Genetic counselling: at reproductive age

Educational: special school attendance.

Support: For parents + child

25
Q

What are 3 complications associated with NF?

A

increased risk of brain tumours, leukaemia, + other malignancy
Malignant peripheral nerve sheath tumour in NF1
Brain tumours more common in NF2

26
Q

What is the prognosis of NF1?

A

Most just have cafe-au-lait spots with no neuro Sx + live healthy long lives, but life expectancy is reduced

27
Q

What is the prognosis of NF2?

A

Depends on complications; higher morbidity + mortality than NF1.

28
Q

What is the prognosis of tuberous sclerosis?

A

May have normal life expectancy
Depends on severity of Sx, learning disability, epilepsy + renal/ CNS complications.

29
Q

What is von Hippel Lindau syndrome?

A

Autosomal dominant condition a/w benign + malignant tumors arising in multiple organs

30
Q

Which gene is effected in von Hippel Lindau syndrome?

A

Deletion of vHL protein
(tumour suppressor gene)

on Chr3

31
Q

Where do vascular tumours usually arise in von Hippel Lindau syndrome?

A

Retina
Cerebellum
Brainstem
Spinal cord

32
Q

Give 2 consequences of hemangioblastoma or angiotaosis forming in von Hippel Lindau syndrome

A

Visual loss

Focal neurological deficits

33
Q

What is the renal manifestion of von Hippel Lindau syndrome? What symptoms does this cause

A

Bilateral renal cell carcinoma
Flank pain
Haematuria
Renal dysfunction

34
Q

What adrenal manifestation of von Hippel Lindau syndrome may occur?

A

Phaeochromocytoma
Episodic HTN
Paroxysmal headaches
Palpitations
Sweating

35
Q

What are the investigations for von Hippel Lindau syndrome?

A

Plasma + urinary catecholamines (Phaeo)
Fundoscopy
Abdo USS, CT, MRI: RCC/ cysts
CT/ MRI brain + spine
Genetic testing

36
Q

What is the treatment for von Hippel Lindau syndrome?

A

Regular surveillance + surgery of tumours if necessary

37
Q

What is the life expectancy in von Hippel Lindau syndrome?

A

F: 60
M: 67

38
Q

What is Sturge Weber syndrome?

A

Congenital noninherited developmental anomaly of neural crest derivatives

39
Q

What is the most common cutaneous manifestation of sturge weber syndrome?

A

Port wine stain (Nevus Flammeus)
Commonly on CNV dermatomes of face
Typically unilateral

40
Q

Give 4 CNS manifestations of Sturge Weber syndrome

A

Leptomeningeal angioma
Seizures/ epilepsy
Intellectual disability
Recurrent stroke like episodes

41
Q

How does Sturge Weber syndrome affect the eyes?

A

episcleral angioma, causing ↑ IOP
+ early-onset glaucoma

42
Q

What may be seen on CT skull in Sturge Weber syndrome?

A

Tram-track calcifications

YR5 Paediatrics (116 decks)

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