Neurocutaneous disorders

Question 1

What is the diagnosis in a patient presenting with café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, and optic gliomas?

Answer 1

Neurofibromatosis I (NF1)

Question 2

What is the likely diagnosis and next step in a child with a history of neurofibromatosis I that presents with unilateral vision loss, proptosis, and optic disc pallor?

Answer 2

• Diagnosis: Optic pathway glioma
• Next step: MRI of the brain with contrast for further evaluation

Question 3

Which immunodeficiency is associated with increased serum alpha-fetoprotein (AFP)?

Answer 3

Ataxia-telangiectasia

Question 4

Which immunodeficiency is always caused by failure to repair DNA double strand breaks due to defects in the ATM gene?

Answer 4

Ataxia-telangiectasia

Question 5

Ataxia-telangiectasia is associated with increased risk of:

Answer 5

lymphoma and leukemia

Question 6

What classes of immunoglobulin are decreased in ataxia-telangiectasia?

Answer 6

IgA, IgG, and IgE

Question 7

Sturge-Weber syndrome is a neurocutaneous disorder (nevus flammeus) associated with a port wine stain and ipsilateral ________which may cause hemiparesis and seizures/epilepsy

Answer 7

leptomeningeal angiomas

Question 8

The characteristics of Sturge-Weber syndrome may be remembered with the mnemonic “STURGE”:

Answer 8

-S: port-wine Stain
-T: Tram-track gyriform calcification
- U: Unilateral weakness (hemiparesis, usually on the opposite side of the body from the facial nevus).
- R: Reduced intellect or developmental delay (cognitive impairment).
- G: Glaucoma (due to episcleral hemangiomas).
- E: Epilepsy (seizures)

Question 9

What CNS tumors are associated with neurofibromatosis II?

Answer 9

Meningioma & ependymoma

Question 10

__________ is a neurocutaneous disorder associated with bilateral acoustic neuroma (vestibular schwannomas)

Answer 10

Neurofibromatosis II

Question 11

The characteristics of von Hippel-Lindau disease may be remembered with the mnemonic “HARP”:

Answer 11

• H: emangioblastomas (tumors in the cerebellum, brainstem, and spinal cord)
• A: ngiomas (blood vessel tumors) of the retina
• R: enal cysts and renal cell carcinoma
• P: heochromocytoma (tumor in the adrenal gland) .

Question 12

The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMS”:

Answer 12

• H: amartomas in CNS
• A: ngiofibromas (also called adenoma sebaceum)
  -M: itral regurgitation
  -A: sh-leaf spots
• R: habdomyoma
• T: ubers
• O: AutosOmal dominant inheritance.
• M: ental disability
• S: seizures