Neurocutaneous Disorders: McCune Albright Syndrome, Tuberous Sclerosis, Neurofibromatosis, Sturge-Weber Syndrome, von-Hippel-Lindau Flashcards
Definition of Precocious Puberty and it’s two types?
onset of secondary (2) sexual characteristics BEFORE AGE * (< 8yo)
- Central PP = GnRH-dependent
- Peripheral PP = GnRH-independent
Difference in LH, FSH, and estradiol between Central vs Peripheral precocious puberty.
Central = inc. FSH, inc. LH, inc. Estradiol
Peripheral dec. FSH, dec. LH, inc. Estradiol
What two initial tests should be conducted when working up Precocious Puberty?
- Bone Age (hand and wrist radiographs)
- GnRH agonist stimulation test
What does an increase or decrease in LH following GnRH-stimulating test mean?
INC LH = CENTRAL precocious puberty –> get MRI
DEC LH = PERIPHERAL precocious puberty –> U/S testes/ovaries
What is the first-line medical treatment for Central Precocious Puberty?
Leuprolide
What are the 3 hallmarks of McCune Albright Syndrome?
- cafe-au-lait spot (large and UNILATERAL)
- polycystic fibrous dysplasia (collagen/fibroblasts in bones)
- Precocious Puberty (1+ endocrinopathy)
What is the mutation in McCune Albright Syndrome?
GNAS activation mutation
What is the inheritance patterns of Neurofibromatosis Type 1 and Type 2?
Autosomal DOMINANT
What is the inheritance pattern of Tuberous Sclerosis?
Autosomal DOMINANT
What chromosome are NF1 and NF2 mutations found on?
NF1 - chromosome 17 (“eye for an eye”
NF2 - chromosome 22 (“two 2’s”)
How do we remember which chromosomes are involved with NF1 and NF2?
NF1 = chromosome 17 (both have 1’s)
NF2 = chromosome 22 (both have 2’s)
“CICLOPS” mnemonic for Neurofibromatosis 1 (NF1)
C - Cafe-au-lait spots
I - intellectual disability
C - cutaneous neurofibromas
L - Lisch nodules (iris hamartomas)
O - optic glioma
P - pheochromocytoma
S - seizures
Rapid Diagnosis (eye exam)
Lisch Nodule - NF1
Rapid Diagnosis (skin exam)
Cafe Au Lait Spots - possible NF1
other diseases can have this; correlate clinically!
Rapid Diagnosis (skin exam)
Cutaneous Neurofibromas - NF1
Rapid Diagnosis (skin exam; unilateral finding)
Cafe-au-lait spot w/”Coast of Maine” appearance - McCune Albright Syndrome
What age do NF1 and NF2 typically become clinically relevant, respectively?
Ages 15 and 20 years old
What are the typical clinical findings of NF2? (head, ears, eyes)
- bilateral vestibular schwannomas
- cataracts
- meningiomas/ependymomas
What two chromosomes are affected in Tuberous Sclerosis?
Chromosome 9 (TSC1) = Hamartin
Chromosome 16 (TSC2) = Tuberin
What head, heart, renal, and skin (2) findings can typically been found in patients with Tuberous Sclerosis?
Head - CNS hamartomas
Heart - rhabdomyoma (mitral regurgitation)
Renal - angiomyolipoma
Skin - Ash-Leaf spots, Shagreen patches (lower lumbar region)
Rapid Diagnosis (skin finding lower lumbarsacral)
Shagreen Patch - Tuberous Sclerosis
- “orange-peel” consistency
Rapid Diagnosis (skin exam)
Ash-leaf spot - Tuberous Sclerosis
What seizure-like activity can be seen in patients with Tuberous Sclerosis at a young age?
What is the typical treatment for this activity?
Infantile spasms
Tx: ACTH
What is the mutation in Sturge-Weber Syndrome?
GNAQ mutation
