Neurocutaneous Syndromes

Question 1

Mutation in the GNAQ gene located on chromosome 9

Answer 1

Sturge-Weber Syndrome

Question 2

Presentation: Port-wine stain + Leptomeningeal Angiomas, Choroidal Hemangioma, Glaucoma, Developmental Disabilities, Seizures

Answer 2

Sturge-Weber Syndrome

Question 3

Café au late spots
Lisch nodules
Neurofibromas
Optic Gliomas
Skeletal dysplasia
Axillary and Inguinal freckling
CNS Neoplasms: Pheochromocytoma
Unidentified Bright Objects (UBOs)

Answer 3

Neurofibromatosis Type 1

Question 4

Ash-leaf Patches
Shagreen Patches
Facial Angiofibromas (Adenoma Sebaceum)
Forehead Fibrous Cephalic Plaque
Ungal Fibromas
Infantile Spasms (Hypsarrhythmia)
CNS Neoplasms: Cortical Tubers, Giant Cells Astrocytomas, Cardiac Rhabdomyoma, Renal Angiomyolipomas, and Lymphangioleiomyomatosis.

Answer 4

Tuberous Sclerosis

Question 5

Upward temporal lens subluxation with supernormal height; long, slender fingers; and pigeon chest deformity or kyphoscoliosis,

Answer 5

Marfan Syndrome

Question 6

Hyperextensible skin, easy bruising, and frequent joint dislocations

Answer 6

Ehlers-Danlos Syndrome

Question 7

Autosomal Dominant - Variable expression, complete penetrance
Mutation in chromosome 17q11.2: Neurofibromin (tumor suppressor gene [RAS] - there is LOSS of function)

Answer 7

Neurofibromatosis Type 1

Question 8

Autosomal Dominant
Mutation in chromosome 22q11-13.1 - Merlin

Answer 8

Neurofibromatosis Type 2

Question 9

Bilateral Vestibular Schwannomas
CNS Neoplasms: Retinal Hamartomas, Optic Disc Gliomas

Answer 9

Neurofibromatosis Type 2

Question 10

Autosomal Dominant
Mutations in chromosome 9q34 (Hamartin) and chromosome 16q13.3 (Tuberin)

Answer 10

Tuberous Sclerosis

Question 11

Autosomal Dominant
Mutation in chromosome 3 that encodes for tumor suppressor gene

Answer 11

von Hipple-Lindau Syndrome

Question 12

Cerebellar Hemangioblastoma
Retinal Hemangioblastoma
Renal Cell Carcinoma
Pheochromocytomas

Cutaneous manifestations are NOT a feature of this disorder.

Answer 12

von Hippel-Lindau Syndrome

Question 13

Autosomal Dominant
Mutation in SPRED1 gene located at chromosome 15

Mild dysmorphisms (hypertelorism, macrocephaly) + Cage-au-lait macules, Axillary/Inguinal Freckling

Answer 13

Legius’s Syndrome

Question 14

Autosomal Dominant
Mutations in Hamartin and Tuberin

Shagreen Patch, Retinal Hamartomas,
Cortical Tubers (large bizarre neurons, predominantly astrocytes, hypomyelinated axons - NOT Premalignant)
Subependymal Nodules, Subependymal Giant Cell Astrocytoma
Cutaneous: Adenoma Sebaceum, Shagreen patches, Ashleaf Spots
Cardiac Rhabdomyoma, Angiomyolipomas

Answer 14

Tuberous Sclerosis

Question 15

Somatic mutations in GNQA gene on chromosome 9.
Persistence of embryonal blood vessels that normally regresses during gestation.

Gyri calcifications resulting from angiomatosis of the leptomeninges and brain giving a tram track appearance

Answer 15

Sturge-Weber Syndrome
Encephalotrigeminal Angiomatosis