Neurocutaneous Syndromes

Question 1

An autosomal dominant disorder that cause tumors to grow on nerves and other abnormalities such as skin changes and bone deformities

Answer 1

Neurofibromatosis

Question 2

This the the hallmark of neurofibromatosis

Answer 2

Cafè-au-lait spots

Question 3

The most common complication of NF

Answer 3

Learning disability

Question 4

Von Recklinghausen Disease

Answer 4

Neurofibromatosis Type 1

Question 5

Characterizedbby CNS tumors,notably bilateral vestibular schwannomas

Answer 5

NF type 2

Question 6

Acoustic Neuroma is more common in which type of NF

Answer 6

NF type 2

Question 7

It is an autosomal dominant disorder resulting from the loss of either tuberin or hamarthine gene and is manifestedbas multiplr benign tumors

Answer 7

Tuberous sclerosis

Question 8

There is mental retardation, seizures, cutaneous lesions and tumors in various organs in this neurocutaneous syndrome

Answer 8

Tuberous sclerosis

Question 9

The hallmark of TSCnis the involvement of this organ system

Answer 9

CNS

Question 10

This is the characteristic brain lesion of TSC

Answer 10

Cortical Tuber

Question 11

Constellation of symptoms and signs including a facial capillary malformation, abnormal blood vessels of the brain and abnormal blood vessels of the eye leading to glaucoma

Answer 11

Sturge-Weber Syndrome

Question 12

True or False. Seizures in Sturge-Webee Syndrome are typically focal tonic-clonic and is ipsilateral yo the side of the facial capillary malformation.

Answer 12

False

Question 13

It is an autosomal dominant disorder with neurologic features of cerebellar hemangiomas and retinal angiomas

Answer 13

Von Hippel-Lindau Disease

Question 14

True or False.The vision is affected in Von Hippel-Lindau Disease

Answer 14

False

Question 15

It is a condition characterized by a facial nevus and neurodevelopmental abnormalities

Answer 15

Linear Nevus Syndrome