Neurocutaneous syndrome

Question 1

what is the genetic inheritance of Tuberous sclerosis and Neurofibromatosis ?

Answer 1

both are autosomal dominant
Majority of the features are NEUROCUTANEOUS

Question 2

cutaneous features of Tuberous sclerosis ?

Answer 2

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)

Question 3

neurological features of TS?

Answer 3

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

Question 4

Opthalmological and cardiac manifestation of TS

Answer 4

retinal hamartomas: dense white areas on retina

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

Question 5

Nephrological and lung association of TS ?

Answer 5

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

Question 6

Neurological brain tumours associated with tuberous sclerosis

Answer 6

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.

Question 7

Location of giant cell astrocytoma

Answer 7

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

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Question 14

what is nuerfibromatosis ?

Answer 14

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

Question 15

cutaneous features of NF1?

Answer 15

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

Question 16

neurological features of NF1?

Answer 16

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

Intellectual disability

Macrocephaly

Question 17

Ortho manifestation of NF1

Answer 17

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

Question 18

NF type 2 age of onset ?

Answer 18

between 18–24 years

Question 19

cutaneous manifestation of NF TYPE 2

Answer 19

skin nodules, and/or cafe au lait spots

Question 20

neurological manifestation of NF type 2

Answer 20

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

Question 21

What tumors are associated with NF-1?

Answer 21

Associated with certain tumors
Pheochromocytoma
Nephroblastoma

Question 22

NFT -1 neurofibromata association ophthalmological?

Answer 22

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!!

Question 23

Other manifestations of neufibromatas type 1

Answer 23

Hypertension

Pulmonary stenosis

Question 24

Opthalomogical features of neurofibromatosis type 2

Answer 24

Early-onset cataracts, usually bilateral

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Question 31

what type of inheritance n Von Hippel Lindau syndrome ?

Answer 31

Autosomal dominant inheritance or spontaneous mutation

Question 32

Most common tumor manifestation of Von Hippel Lindau syndrome?

Answer 32

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

Question 33

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

Answer 33

Bilateral renal cell carcinoma

Question 34

Endocrinological tumors of Von hippel lindau syndrome

Answer 34

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

Question 35

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

Answer 35

Endolymphatic sac tumor Bilateral disease is a pathognomonic feature

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Question 40

Sturge-Weber syndrome

Answer 40

Congenital noninherited developmental anomaly of neural crest derivatives

Question 41

cutaneous features of sturge-Weber syndrome

Answer 41

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

Question 42

neurological manifestation sturge-Weber syndrome

Answer 42

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

Question 43

other manifestation of sturge-Weber syndrome

Answer 43

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

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Question 54

Ataxia-telangiectasia inheritance

Answer 54

Autosomal recessive inheritance

Question 55

Neurological features of ataxia telengiectasia

Answer 55

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

Question 56

Cutaneous involvement of ataxia telengiactesia

Answer 56

Spider angiomas: telangiectasia that mainly involves the conjunctiva and face

Question 57

haematological manifestations of of ataxia telengiectasia

Answer 57

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

Question 58

eye involvement in ataxia telangiectasia ?

Answer 58

Oculomotor apraxia Nystagmus Strabismus

Question 59

what biomarker is high in ataxia telengeictasia ?

Answer 59

↑ AFP Increased risk of malignancy - gastric carcinoma