Neurocutaneous syndrome Flashcards
what is the genetic inheritance of Tuberous sclerosis and Neurofibromatosis ?
both are autosomal dominant
Majority of the features are NEUROCUTANEOUS
cutaneous features of Tuberous sclerosis ?
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)
neurological features of TS?
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
Opthalmological and cardiac manifestation of TS
retinal hamartomas: dense white areas on retina
rhabdomyomas of the heart - mitral regurgitation and/or congestive heart failure
Nephrological and lung association of TS ?
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
Neurological brain tumours associated with tuberous sclerosis
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.
Location of giant cell astrocytoma
arises in periventricular areas and, if symptomatic, presents subacutely with evidence of obstructive hydrocephalus (e.g., headache, papilledema)
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what is nuerfibromatosis ?
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
cutaneous features of NF1?
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
neurological features of NF1?
Seizures and/or focal neurologic signs due to brain lesions (especially meningiomas)
Intellectual disability
Macrocephaly
Ortho manifestation of NF1
Bone involvement:
Scoliosis
Sphenoid wing dysplasia
Short stature
Cortical thinning
Fractures
Pseudoarthrosis
NF type 2 age of onset ?
between 18–24 years
cutaneous manifestation of NF TYPE 2
skin nodules, and/or cafe au lait spots
neurological manifestation of NF type 2
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
What tumors are associated with NF-1?
Associated with certain tumors
Pheochromocytoma
Nephroblastoma
NFT -1 neurofibromata association ophthalmological?
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!!
Other manifestations of neufibromatas type 1
Hypertension
Pulmonary stenosis
Opthalomogical features of neurofibromatosis type 2
Early-onset cataracts, usually bilateral
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what type of inheritance n Von Hippel Lindau syndrome ?
Autosomal dominant inheritance or spontaneous mutation
Most common tumor manifestation of Von Hippel Lindau syndrome?
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
Patient with Von hippel syndrome can cause flank pain, hematuria, and/or renal dysfunctionwhat do they have ?
Bilateral renal cell carcinoma
Endocrinological tumors of Von hippel lindau syndrome
Pheochromocytoma: can cause episodic hypertension with paroxysmal headaches, palpitations, and/or diaphoresis
Von Hippel Lindau syndrome can cause hearing loss, tinnitus, and/or vertigo like NFT-2 what type of tumor do they have
Endolymphatic sac tumor
Bilateral disease is a pathognomonic feature
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Sturge-Weber syndrome
Congenital noninherited developmental anomaly of neural crest derivatives
cutaneous features of sturge-Weber syndrome
Skin: port-wine stain (nevus flammeus)
Nonneoplastic birthmark
Commonly seen in the CN V1 and CN V2 dermatomes of the face
Typically unilateral
neurological manifestation sturge-Weber syndrome
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
other manifestation of sturge-Weber syndrome
Eye: episcleral angioma, causing ↑ IOP and early-onset glaucoma
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Ataxia-telangiectasia inheritance
Autosomal recessive inheritance
Neurological features of ataxia telengiectasia
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
Cutaneous involvement of ataxia telengiactesia
Spider angiomas: telangiectasia that mainly involves the conjunctiva and face
haematological manifestations of of ataxia telengiectasia
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
eye involvement in ataxia telangiectasia ?
Oculomotor apraxia
Nystagmus
Strabismus
what biomarker is high in ataxia telengeictasia ?
↑ AFP
Increased risk of malignancy - gastric carcinoma
