NC Syndromes

Question 1

B/L acoustic neuroma associated with which chromosome mutation in neurofibromatosis

Answer 1

Chromosome 22 ; NF-2 - m/c association b/L neurofibromatosis

Question 2

Nf-1- mutation

Answer 2

Autosomal Dominant

Chromosome 17

Question 3

Pathognomic finding of NF

Answer 3

Axillary/Groin Freckles

Question 4

1st finding in TUBEROUS SCLEROSIS

Answer 4

Ashleaf Macules (hypopigmented lesion)

Question 5

Gene defects in TS

Answer 5

TSC-1 mutation in chromosome 9, codes for TUBERIN.

TSC-2 mutation in chromosome 16, codes for HAMARTIN

Question 6

Doc - (INFANTILE SPASM + Tub. Sclerosis)

Answer 6

VIGABATRIN

Question 7

Classical features associated with TS

Answer 7

1. SHAGREEN patch
2. ASHLEAF macules
3. Subungal fibroma
4. Adenoma Sebacum