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MRCP neurology > Neurocutaneous syndrome > Flashcards

Neurocutaneous syndrome Flashcards

1
Q

what is the genetic inheritance of Tuberous sclerosis and Neurofibromatosis ?

A

both are autosomal dominant
Majority of the features are NEUROCUTANEOUS

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2
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cutaneous features of Tuberous sclerosis ?

A

depigmented ‘ash-leaf’ spots which fluoresce under UV light

Shagreen patches - roughened patches of skin over lumbar spine

adenoma sebaceum (angiofibromas): butterfly distribution over nose
3–4 years of age

fibromata beneath nails (subungual fibromata)

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3
Q

neurological features of TS?

A

developmental delay

epilepsy -infantile spasms or partial = children < 3 years of age
head bobbing, flexor spasms, extensor spasms, and/or movements that mimic the startle response

intellectual impairment

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4
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Opthalmological and cardiac manifestation of TS

A

retinal hamartomas: dense white areas on retina

rhabdomyomas of the heart - mitral regurgitation and/or congestive heart failure

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5
Q

Nephrological and lung association of TS ?

A

polycystic kidneys, renal angiomyolipomata () tumor of fat and muscle tissue )

lymphangioleiomyomatosis: abnormal growth of smooth muscle cells, especially in the lungs and lymphatic system. This abnormal growth leads to the formation of holes or cysts in the lung

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6
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Neurological brain tumours associated with tuberous sclerosis

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Brain tumors:

Hamartomas: can be cortical (glioneuronal hamartoma or tuber), subcortical, and/or subependymal

Giant cell astrocytoma
Benign, slow-growing tumor of mixed glial cells that is associated with tuberous sclerosis.

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7
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Location of giant cell astrocytoma

A

arises in periventricular areas and, if symptomatic, presents subacutely with evidence of obstructive hydrocephalus (e.g., headache, papilledema)

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14
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what is nuerfibromatosis ?

A

benign peripheral nerve sheath tumors that originate from neural crest cells and affect the myelinated nerve

Located on chromosome 17 for NFT1

NF Type 2, the mutation is in chromosome Twenty-2

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15
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cutaneous features of NF1?

A

Soft, painless nodules: typically manifest under or on the skin

Age of onset: adolescence

Malignant transformation possible

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melanocyte dysfunction:
Café au lait spots
Brown (hyperpigmented), flat macule or patch
Age of onset: before 2 years

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Axillary and inguinal freckling: age of onset is between 3–5 years

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16
Q

neurological features of NF1?

A

Seizures and/or focal neurologic signs due to brain lesions (especially meningiomas)

Intellectual disability

Macrocephaly

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17
Q

Ortho manifestation of NF1

A

Bone involvement:
Scoliosis
Sphenoid wing dysplasia
Short stature
Cortical thinning
Fractures
Pseudoarthrosis

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18
Q

NF type 2 age of onset ?

A

between 18–24 years

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19
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cutaneous manifestation of NF TYPE 2

A

skin nodules, and/or cafe au lait spots

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20
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neurological manifestation of NF type 2

A

cerebral and spinal tumors (especially meningiomas and ependymomas)

Bilateral vestibular schwannomas (acoustic neuromas)
Located in the internal acoustic meatus, affecting the vestibulocochlear nerve
Can cause tinnitus, hearing loss, or vertigo

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21
Q

What tumors are associated with NF-1?

A

Associated with certain tumors
Pheochromocytoma
Nephroblastoma

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22
Q

NFT -1 neurofibromata association ophthalmological?

A

Optic pathway glioma (most commonly involving optic nerve) causing unilateral vision loss,
proptosis, or precocious puberty

Lisch nodules
= Pigmented iris hamartomas
Age of onset: between 5–10 years!!

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23
Q

Other manifestations of neufibromatas type 1

A

Hypertension

Pulmonary stenosis

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24
Q

Opthalomogical features of neurofibromatosis type 2

A

Early-onset cataracts, usually bilateral

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31
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what type of inheritance n Von Hippel Lindau syndrome ?

A

Autosomal dominant inheritance or spontaneous mutation

32
Q

Most common tumor manifestation of Von Hippel Lindau syndrome?

A

Vascular tumors : hemangioblastoma or angiomatosis
Common in retina, cerebellum, brainstem, and/or spine
Can cause vision loss or focal neurological deficits

Cystadenoma: located in the broad ligament or epididymis

33
Q

Patient with Von hippel syndrome can cause flank pain, hematuria, and/or renal dysfunctionwhat do they have ?

A

Bilateral renal cell carcinoma

34
Q

Endocrinological tumors of Von hippel lindau syndrome

A

Pheochromocytoma: can cause episodic hypertension with paroxysmal headaches, palpitations, and/or diaphoresis

35
Q

Von Hippel Lindau syndrome can cause hearing loss, tinnitus, and/or vertigo like NFT-2 what type of tumor do they have

A

Endolymphatic sac tumor
Bilateral disease is a pathognomonic feature

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40
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Sturge-Weber syndrome

A

Congenital noninherited developmental anomaly of neural crest derivatives

41
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cutaneous features of sturge-Weber syndrome

A

Skin: port-wine stain (nevus flammeus)
Nonneoplastic birthmark
Commonly seen in the CN V1 and CN V2 dermatomes of the face
Typically unilateral

42
Q

neurological manifestation sturge-Weber syndrome

A

Leptomeningeal angioma: benign vascular tumor involving the arachnoid and pia mater (leptomeninges)
Ipsilateral to port-wine stain
Atrophy and calcifications in the cerebral cortex underlying the tumor

Commonly involves the parietal or occipital lobes
Recurrent stroke-like episodes: manifests with hemianopia or hemiparesis

Seizures/epilepsy
Intellectual disability

43
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other manifestation of sturge-Weber syndrome

A

Eye: episcleral angioma, causing ↑ IOP and early-onset glaucoma

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54
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Ataxia-telangiectasia inheritance

A

Autosomal recessive inheritance

55
Q

Neurological features of ataxia telengiectasia

A

Cerebellar involvement
Age of onset: 6–18 months
Atrophy of the cerebellar vermis and hemispheres

Symptoms:
Truncal swaying - uncertain starts and stops, lateral deviations and unequal steps
Gait ataxia
Dyssynergia- uncoordinated and abrupt movements
Muscle hypotonia
Sudden falls

Movement abnormalities:
Chorea - sudden, unintended, and uncontrollable jerky movements

Athetosis - slow, involuntary, convoluted, writhing movements of the fingers, hands, toes

Dystonia

Myoclonic jerks

56
Q

Cutaneous involvement of ataxia telengiactesia

A

Spider angiomas: telangiectasia that mainly involves the conjunctiva and face

57
Q

haematological manifestations of of ataxia telengiectasia

A

Immunodeficiency (B and T cell deficiency)
=Manifests with recurrent sinopulmonary infections

Commonly associated with IgA deficiency (e.g., mucosal infection, transfusion-related anaphylaxis)

Lymphoma
Leukemia

58
Q

eye involvement in ataxia telangiectasia ?

A

Oculomotor apraxia
Nystagmus
Strabismus

59
Q

what biomarker is high in ataxia telengeictasia ?

A

↑ AFP
Increased risk of malignancy - gastric carcinoma

MRCP neurology (43 decks)

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