Neurocutaneous Disorders

1
Neurocutaneous Disorders

• Neurology Rotation Lecture Series
• Last Updated by Lindsay Pagano
• Summer 2013

2
Patient Presentation

• 5 year old male presents for evaluation of
  macrocephaly and skin lesions
• history of seizures, controlled on keppra via PCP
• skin lesions noted by PCP, mom says new and not
  birthmarks
• ?mild scoliosis
• exam 90thile for HC, bilateral axillary
  freckling, 7 hyperpigmented areas neuro exam
  normal
• questions? differential?

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Neurocutaneous Disorders
Neurofibromatosis 1/von Recklinghausen disease

• Diagnosis
• 2 or more of
• 6 or more café au lait macules
• FHx in 1st degree relative
• 2 or more neurofibromas OR 1 plexiform neurofib
• optic glioma
• lisch nodules
• osseous lesion

• Neuro
• seizure
• intracranial tumor
• nerve sheath, root tumor
• polyneuropathy
• vasculopathy
• macrocephaly
• learning disability
• UBOs

4
NF1

• Other
• Ocular
• optic gliomas
• lisch nodules
• Skeletal
• scoliosis
• pseudoarthrosis
• sphenoid dysplasia
• HTN, renovascular

café au lait macules
neurofibroma
Cutaneous
axillary freckling
plexiform neurofibromas
5
Neurofibromatosis 2

• Cutaneous
• café au lait macules
• intracutaneous tumors
• subcutaneous nodules
• skin plaques

• Neuro
• acoustic neuromas
• spinal tumors
• meningiomas
• mononeuropathy

• Other
• Ocular
• posterior subcapsular lens opacities
• retinal hamartoma
• epiretinal membrane

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Tuberous Sclerosis

• Neuro
• cortical tubers
• subependymal nodules
• giant cell tumors
• white mater heterotopia
• Seizures (90)
• infantile spasms (50)
• ID, DD
• behavioral concerns

• Diagnosis
• TSC1, TSC2
• Major, Minor criteria
• Definite
• 2 major
• 1 major 2 minor
• Probable
• 1 major 1 minor
• Possible
• 1 major
• 2 or more minor

• Other
• Ocular
• retinal hamartomas
• achromic patches
• Cardiac
• atrial rhabdo
• Renal
• angiomyolipomas
• Lung
•  lymphangioleiomyomatosis (LAM)

7
TS
Cutaneous
periungual fibroma
Shagreen patch
hypomelanotic macule
facial angiofibromas
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Sturge-Weber Syndrome

• Neuro
• Seizures
• focal ? generalized tonic clonic
• Leptomeningeal angioma
• pia mater
• IL to port wine stain
• MC occipital and parietal areas affected
• Hypoperfusion injury
• ID, DD
• Progressive

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Sturge-Weber

• Cutaneous
• Port Wine Stain
• 10 incidence of SWS
• Hemifacial hemangioma
• CN5
• progressive

• Other
• Ocular
• visual field defects
• glaucoma
• other vascular anomalies
• IL heterochromic iris
• GH deficiency
• central hypothyroidism

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PREP Question

• You care for a 5 year old girl who recently
  received a diagnosis of neurofibromatosis type 1.
  Her parents tell you that they have read that NF1
  is associated with an increased risk for cancers,
  and they ask you for more information.
• Of the following, the MOST accurate statement
  regarding cancers associated with NF1 is that
• Leukemia is an unlikely cancer type
• Lisch nodules predispose to tumors of the eye
• Optic glioma most commonly presents at the onset
  of puberty
• Pheochromocytoma is common in early childhood
• Plexiform neurofibromas may show malignant
  transformation

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E. Plexiform neurofibromas may show malignant
transformation

• NF1- facts we havent covered
• Cells have only half the normal amount of
  intracellular neurofibromin
• Most tumors are benign, but overall increased
  risk of malignancy by 5
• Plexiform neurofibromas occur in 25 of NF
  patients, and undergo malignant transformation to
  neurofibrosarcoma in 10-15
• Malignant transformation signs include rapid
  tumor growth and pain
• Regarding the other choices
• A. Leukemia myeloproliferative and
  myelodysplastic leukemias are associated with NF1
• B. Lisch nodules hamartomas in the iris stroma
  benign
• C. Optic glioma 15 patients before age 6
  benign
• D. Pheochromocytoma increased incidence, occurs
  in adulthood