Syndrome

Question 1

What is the pathology of SEGA?

Answer 1

Intraventricular lesion at the foramen of Monro that arises when subependymal nodule transforms over time (>1 cm)

SEGA stands for Subependymal Giant Cell Astrocytoma

Question 2

What are other manifestations of Tuberous Sclerosis (TS)?

Answer 2

Subcortical tubers, subependymal nodules, radial bands, LAM, cardiac rhabdomyoma, renal/hepatic AMLs, mediastinal/retroperitoneal lymphangiomyomas, angiofibromas, ash leaf spots

LAM refers to Lymphangioleiomyomatosis, AMLs refer to Angiomyolipomas

Question 3

What is the clinical triad of Tuberous Sclerosis?

Answer 3

Seizures, intellectual disability, adenoma sebaceum

Question 4

What is the genetic basis of Tuberous Sclerosis?

Answer 4

Spontaneous in 50-86% (rest is AD). TSC1 (hamartin) chr9, TSC2 (tuberin) chr16

Question 5

What is the management for Tuberous Sclerosis?

Answer 5

Echo and abdo US

Question 6

What are other features of NF1 associated with optic nerve glioma?

Answer 6

Plexiform neurofibroma, cafe au lait spots, iris hamartomas, sphenoid wing dysplasia, FASI, pseudoarthrosis, neoplasms, AVMs, GIST

GIST refers to Gastrointestinal Stromal Tumors

Question 7

What is the mnemonic for features of NF1?

Answer 7

CAFE SPOT: cafe au lait, axillary/inguinal freckles, fibromas (2/+ neurofibroma, 1 plexiform), eye hamartomas, sphenoid wing dysplasia / leg bowing, positive FHx, optic tract glioma

Question 8

What is the pathology of NF1?

Answer 8

1 in 3000, NF1 tumour suppressor gene on chr17, codes neurofibromin

Question 9

What are other manifestations of NF2 associated with vestibular schwannoma?

Answer 9

Meningiomas, schwannomas, ependymomas

Question 10

What is the pathology of NF2?

Answer 10

1 in 50000, NF2 tumour suppressor gene on chr22, codes merlin

Question 11

What are the findings in Sturge Weber syndrome?

Answer 11

Subcortical calcification (tram-track sign), ipsilateral choroid plexus/cavernous sinus enlargement, unilateral atrophy, leptomeningial enhancement

Question 12

What is the pathology of Sturge Weber syndrome?

Answer 12

Leptomeningeal angiomatosis (maldeveloped draining veins) –> vascular steal affecting subjacent cortex and white matter –> local ischaemia

Question 13

What is CHARGE syndrome?

Answer 13

Coloboma, heart defects, atresia (choanal), retarded growth, genital hypoplasia, ear anomalies