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A Pediatrics Compendium > Neurocutaneous Disorders: McCune Albright Syndrome, Tuberous Sclerosis, Neurofibromatosis, Sturge-Weber Syndrome, von-Hippel-Lindau > Flashcards

Neurocutaneous Disorders: McCune Albright Syndrome, Tuberous Sclerosis, Neurofibromatosis, Sturge-Weber Syndrome, von-Hippel-Lindau Flashcards

1
Q

Definition of Precocious Puberty and it’s two types?

A

onset of secondary (2) sexual characteristics BEFORE AGE * (< 8yo)

  • Central PP = GnRH-dependent
  • Peripheral PP = GnRH-independent
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2
Q

Difference in LH, FSH, and estradiol between Central vs Peripheral precocious puberty.

A

Central = inc. FSH, inc. LH, inc. Estradiol

Peripheral dec. FSH, dec. LH, inc. Estradiol

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3
Q

What two initial tests should be conducted when working up Precocious Puberty?

A
  1. Bone Age (hand and wrist radiographs)
  2. GnRH agonist stimulation test
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4
Q

What does an increase or decrease in LH following GnRH-stimulating test mean?

A

INC LH = CENTRAL precocious puberty –> get MRI

DEC LH = PERIPHERAL precocious puberty –> U/S testes/ovaries

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5
Q

What is the first-line medical treatment for Central Precocious Puberty?

A

Leuprolide

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6
Q

What are the 3 hallmarks of McCune Albright Syndrome?

A
  1. cafe-au-lait spot (large and UNILATERAL)
  2. polycystic fibrous dysplasia (collagen/fibroblasts in bones)
  3. Precocious Puberty (1+ endocrinopathy)
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7
Q

What is the mutation in McCune Albright Syndrome?

A

GNAS activation mutation

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8
Q

What is the inheritance patterns of Neurofibromatosis Type 1 and Type 2?

A

Autosomal DOMINANT

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9
Q

What is the inheritance pattern of Tuberous Sclerosis?

A

Autosomal DOMINANT

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10
Q

What chromosome are NF1 and NF2 mutations found on?

A

NF1 - chromosome 17 (“eye for an eye”

NF2 - chromosome 22 (“two 2’s”)

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11
Q

How do we remember which chromosomes are involved with NF1 and NF2?

A

NF1 = chromosome 17 (both have 1’s)

NF2 = chromosome 22 (both have 2’s)

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12
Q

“CICLOPS” mnemonic for Neurofibromatosis 1 (NF1)

A

C - Cafe-au-lait spots
I - intellectual disability
C - cutaneous neurofibromas
L - Lisch nodules (iris hamartomas)
O - optic glioma
P - pheochromocytoma
S - seizures

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13
Q

Rapid Diagnosis (eye exam)

A

Lisch Nodule - NF1

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14
Q

Rapid Diagnosis (skin exam)

A

Cafe Au Lait Spots - possible NF1

other diseases can have this; correlate clinically!

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15
Q

Rapid Diagnosis (skin exam)

A

Cutaneous Neurofibromas - NF1

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16
Q

Rapid Diagnosis (skin exam; unilateral finding)

A

Cafe-au-lait spot w/”Coast of Maine” appearance - McCune Albright Syndrome

17
Q

What age do NF1 and NF2 typically become clinically relevant, respectively?

A

Ages 15 and 20 years old

18
Q

What are the typical clinical findings of NF2? (head, ears, eyes)

A
  • bilateral vestibular schwannomas
  • cataracts
  • meningiomas/ependymomas
19
Q

What two chromosomes are affected in Tuberous Sclerosis?

A

Chromosome 9 (TSC1) = Hamartin

Chromosome 16 (TSC2) = Tuberin

20
Q

What head, heart, renal, and skin (2) findings can typically been found in patients with Tuberous Sclerosis?

A

Head - CNS hamartomas

Heart - rhabdomyoma (mitral regurgitation)

Renal - angiomyolipoma

Skin - Ash-Leaf spots, Shagreen patches (lower lumbar region)

21
Q

Rapid Diagnosis (skin finding lower lumbarsacral)

A

Shagreen Patch - Tuberous Sclerosis

  • “orange-peel” consistency
21
Q

Rapid Diagnosis (skin exam)

A

Ash-leaf spot - Tuberous Sclerosis

21
Q

What seizure-like activity can be seen in patients with Tuberous Sclerosis at a young age?

What is the typical treatment for this activity?

A

Infantile spasms

Tx: ACTH

22
Q

What is the mutation in Sturge-Weber Syndrome?

A

GNAQ mutation

23
Q

What head, eye, and skin findings can be seen in Sturge Weber Syndrome?

A
  • port-wine stain in Trigeminal nerve distribution
  • ipsilateral leptomeningeal angioma
  • glaucoma

capillary vascular malformation

24
Q

Rapid Diagnosis (skin exam)

A

Port-Wine Stain - Sturge-Weber Syndrome

25
Q

What do the intracranial calcifications seen in Sturge-Weber Syndrome resemble?

A

“tram-track appearance”

26
Q

What is the inheritance pattern of von-Hippel-Lindau disease?

What chromosome is it found on?

A

Autosomal DOMINANT

Chromosome 3

27
Q

‘HARP’ mnemonic for von-Hippel-Lindau disease

A

H - hemangioblastomas
A - angiomatosis
R - renal cell carcinomas (BILATERAL)
P - pheochromocytoma

A Pediatrics Compendium (47 decks)

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