Neurocutaneous Syndromes

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Neurocutaneous Syndromes

• John B. Bodensteiner
• Chief, Pediatric Neurology
• Childrens Health Center and
• Barrow Neurological Institute
• Phoenix, AZ

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Sturge-Weber Syndrome

• Primary features
• Port-wine stain
• Facial, unilateral or bilateral,
• Meningeal angiomatosis
• Ipsilateral to PWS or bilateral, rarely
  contralateral
• Glaucoma
• Congenital Bupthalmos
• Scleral angiomatosis
• Anterior chamber anomaly
• Increased production of humor

essential for diagnosis of SWS
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PWS

• Capillary angioma
• Site determines response
• Glabellar skin responds best
• Distribution does not determine the presence of
  meningeal angioma
• upper lids and bilateral lesions have greater
  risk

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PWS

• Lesion may thicken with age
• Nodularity develops with age/puberty
• Other tissues may be involved
• Teeth
• Jaw
• Tongue
• Nasal passages
• Trunk
• Arms

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PWS

• Estimated that 90 of PWSs do not have
  Sturge-Weber syndrome
• Even with bilateral lesions most do not have SWS
• This child does not have SWS
• Tuned laser surgery may prevent thickening of
  skin and subcutaneous tissues

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SWS

• Neurological features
• Seizures
• 50 by 1 year, 90 by 5
• Early onset associated with worse prognosis for
• Control of seizures
• Cognitive function
• Hemiparesis
• May develop in stroke like events
• Often associated with Seizure flurries
• Cognitive impairment/LD

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Axial MRI of child with Sturge-Weber syndrome
showing atrophy of the left hemisphere and
contrast enhancement of the surface of the left
hemisphere particularly prominent over the
occipital lobe.
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Coronal and axial MRI of a child with
Sturge-Weber syndrome showing the extent of
atrophy resultant from this extensive left
hemisphere meningeal angioma.
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Sagittal MRI with contrast from a 13 year old
with extensive meningeal angioma over the left
hemisphere, note the contrast enhancement of the
gyral pattern and the enlargement of the deep
venous system secondary to the increased flow
through the extensive lesion.
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Timing of Neuroimaging

• One year-old
• Scanned at one month, told there was no
  intracranial involvement
• Consensus is that if by 1 year there is no
  evidence of intracranial involvement there is no
  SWS

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Tram Track Calcifications
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Gross and Microscopic lesions
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SWS Eye

• Conjunctival angiomatosis
• Scleral angiomatosis
• Glaucoma
• CongenitalBupthalmos
• Secondary to
• Sclera angiomata
• Anomaly of Schlemms canal
• Increased resistance to absorption of fluid

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Scleral Angiomatosis
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Schlemms Canal
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Optic Nerve Damage, IOP
Moderate ON damage
Advanced ON damage
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Retinal involvement
Vascular tortuosity of retinal vessels on
affected side
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Glaucoma

• Age of onset lt1 to 43 years
• Total 60,
• Unilateral 57 Bilateral 43
• Highly associated with V1 and V2 distribution
  lesions
• Several mechanisms involved
• Anomaly of Schlemms canal
• Choroidal angioma
• Increased pressure of drainage

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SWS Controversies

• Pathophysiology of functional deterioration
• Hypoxic-Ischemic injury
• Vascular Steal
• Stroke?
• Hemorrhage?
• Management of Seizures
• Indications for surgical Rx of seizures
• Choice of operation
• Diagnosis in Infancy

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Surgical Rx of Seizures

• Medically refractory and functionally intrusive
  seizures!
• Lesionectomy
• Small circumscribed lesion demonstrated source of
  seizures
• Callosotomy
• Drop attacks, uncommon but very refractory when
  present
• Hemispherectomy
• Timing controversial
• Type of operation ?controversial?

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Hemispherectomy

• Intrusive seizures
• Medically refractory Sz
• Unilateral hemisphere involvement (Not an
  absolute requirement of other factors match)
• Age appropriate facility with available
• CT, MR, MR Spectroscopy, Video EEG monitoring
  capability, Invasive monitoring capability, PET
  availability
• Already established, Lesion related neurological
  deficit!

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