Neurocutaneous Disorders Flashcards
Neurocutaneous syndromes
Group of disorders involving both the nervous system and skin
Lifelong
Can cause tumors to grow inside the brain, spinal cord, organs, skin, and skeletal bones
2 categories of neurocutaneous disorders
Neurofibromatosis
Tuberous sclerosis complex
Tuberous sclerosis complex (TSC)
Affects cellular differentiation, proliferation, and migration during development…can impact every organ system
Characterized by hamartomas (benign)…grow at same rate as surrounding tissue
Triad of symptoms
- Intractable epilepsy
- Full retard
- Adenoma sebaceum angiofibromas on face —> looks like acne that does not get better with treatment
2 forms: TSC1, TSC2
Both genes are tumor supressor genes
‘Second hit phenomenom’
Cause of the significant genetic variability - where the patient has a flawed copy of 1 TSC gene by mutation and the normal allele receives a ‘second hit’ to trigger mutation
Cerebral manifestations of TSC
Cortical tubers
Disorganized arrangement of tissue at the grey-white matter jxn
Will disrupt normal cortical organization
Subependymal nodules (SEN) - grey matter nodules located immediately beneath the ependymal of the lateral ventricles (usually benign)
Subenpendymal giant cell astrocytomas (SEGA) —> rarely cancerous but tend to grow in palces that aren’y good — can cause hydrocephalus of the brain
Skin manifestations of TSC
Hypomelanotic (ash leaf) macules
Shagreen patch - thick subcutaneouss tissue that sometimes has a rougher textur and is often found on the trunk
Periungual or gingival fibromas - small nodule found in the nails
Adenomas sebaceum (face)
Organ manifestations of TSC
Heart - instracardiac mass…always think TSC with this until proven otherwise (especially TSC1)
TSC2 - higher incidence of renal disorders
Retinal astrocytomas
Pulmonary cysts and lymphangioleimyomatosis
Most common neurological symptoms of TSC
Epilepsy - infantile spasms
Without TSC = treatment = steroids
With TSC = vigabatrin
Outcome of TSC patients highly depends on how well you control their infantile spasms
Neurofibromatosis (NF1)
Cafe au lait spots = hallmark sign
Cutaneous neurofibromas - not malignant
Lisch nodules - dome shaped gelatinous masses that develop of surface of the iris
Plexiform neurofibromas - benign tumor or PNS…can become malignant
Optic pathway gliomas = most common CNS tumor in NF1 CANCEROUS
TNR disorders
Fragile X
Huntingtons
Fragile X
Most ccommon cause of inherited cognitive impairment
4 zones on the number of repeat scale
- Normal
- Great zone
- Premutation - slightly symptomatic
- Mutation
Females with fragile X usually asymptomatic
Unless lyonization occurs
The 3 identifiable causes of cognitive impairment in a person
Alcohol during pregnancy —> preventable
Down syndrome —> genetic
fragile X —> inherited
