Neurocutaneous syndromes Flashcards
Which neurofibromatosis is more common? Which is associated with chromosome 17? 22?
NF 1 is 10x more common
NF1 - 17
NF2 - 22
What are the hallmarks of NF1?
What are the other associated findings
prominent cutaneous lesions, Plexiform neurofibromas, Bilateral optic nerve gliomas
Hamartomas, greater sphenoid wing dysplasia with pulsatile exopthalmos, globe enlargement
Where are the common sites for dysplastic myelin formation in NF1? How does it look?
High T2/FLAIR signal, no mass effect, no enhancement or restricted diffusion
Basal ganglia - globus palladi (can be T1 hyperintense in these parts) Optic radiations Internal capsules Brainstem Cerebellar/cerebral peduncles
What is the course of dysplastic myelin in NF1?
Grow until 10yo, then regress
What are the spinal abnormalities in NF1?
Neurofibromas and rare astrocytomas
Expansion of neuroforamina, widened spinal canal, scalloped posterior aspect of vertebral body
Acute angle of kyphoscoliosis
Lateral thoracic meningoceles!!!
What does lateral thoracic meningoceles and acute angle kyphoscoliosis suggest?
NF1
What are the spinal abnormalities in NF2?
MISME
multiple inheritied Meningiomas, Schwannomas, Ependymomas
When do NF2 patients present? What do all patients develop? What is the hallmark sign?
What in a child suggests NF2?
20-30s, all patients develop CNS tumors
Bilateral vestibular schwannomas
Meningioma in a child should raise suspiciion for NF2
Where do NF2 meningiomas arise vs sporadically?
Lateral ventricle
What is the chromosome in tuberous sclerosis?
What is the classic triad?
What do 95% of patients demonstrate on brain imaging?
9 and 16
“zits, fits, and nitwits” - facial angiofibromas, seizures, mental retardation
Subcortical or periventricular hamartomas
What are the hamartomas in tuberous sclerosis made of?
Disordered glial cells, HETEROTOPIC neurons (grey matter), giant cells, CALCIFICATION
What is the imaging of the tuberous sclerosis hamartomas?
Wedge shaped FLAIR signal
Calcification on CT
Linear lowT1/highT2 signal extending to ventricle from subcortical hamartoma
What are the 3 extraCNS lesions in tuberous sclerosis?
Cardiac rhabdomyoma
Renal AML
LAM
Cystoid degeneration - WM cysts - are seen with what?
Tuberous sclerosis
What is SEGA seen in?
Tuberous sclerosis