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Neurology aNd Special SeNSeS ` neurology—PAthology Neurology aNd Special SeNSeS ` neurology—PAthology SecTioN iii 525
Neurocutaneous disorders
disorder genetiCs PresentAtion notes
Sturge-Weber Congenital Capillary vascular malformation port- Also called encephalotrigeminal
syndrome nonhereditary wine stain A (nevus flammeus or non- angiomatosis.
anomaly of neural neoplastic birthmark) in CN V /V SSTURGGE-Weber: Sporadic,
1
2
crest derivatives. distribution; ipsilateral leptomeningeal port-wine Stain, Tram track
Somatic mosaicism of angioma B seizures/epilepsy; calcifications (opposing gyri),
an activating mutation intellectual disability; episcleral Unilateral, intellectual disability
in one copy of the hemangioma IOP early-onset (Retardation), Glaucoma,
GNAQ gene. glaucoma. GNAQ gene, Epilepsy.
Tuberous sclerosis AD, variable expression. Hamartomas in CNS and skin, HAMARTOMASS.
Mutation in tumor Angiofibromas C , Mitral regurgitation, incidence of Subependymal
suppressor genes TSC1 Ash-leaf spots D, cardiac Rhabdomyoma, giant cell astrocytomas and
on chromosome 9 (Tuberous sclerosis), autosomal dOminant; ungual fibromas.
(hamartin), TSC2 Mental retardation (intellectual disability),
on chromosome 16 renal Angiomyolipoma E , Seizures,
(tuberin). Shagreen patches.
Neurofibromatosis AD, 100% penetrance. Café-au-lait spots F , Intellectual disability, Also called von Recklinghausen
type I Mutation in NF1 tumor Cutaneous neurofibromas G, Lisch disease.
suppressor gene on nodules (pigmented iris hamartomas H), 17 letters in “von
chromosome 17 Optic gliomas, Pheochromocytomas, Recklinghausen.”
(encodes neurofibromin, Seizures/focal neurologic Signs (often CICLOPSS.
a negative RAS from meningioma), bone lesions (eg,
regulator). sphenoid dysplasia).
Neurofibromatosis AD. Mutation in NF2 Bilateral vestibular schwannomas, juvenile NF2 affects 2 ears, 2 eyes.
type II tumor suppressor cataracts, meningiomas, ependymomas.
gene (merlin) on
chromosome 22.
von Hippel-Lindau AD. Deletion of VHL Hemangioblastomas (high vascularity with Numerous tumors, benign and
disease gene on chromosome hyperchromatic nuclei I ) in retina, brain malignant.
3p. pVHL stem, cerebellum, spine J ; Angiomatosis; VHL = 3 letters.
ubiquitinates hypoxia- bilateral Renal cell carcinomas; HARP.
inducible factor 1a. Pheochromocytomas.
A B C D E
F G H I J
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