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Detailed information of STURGE-WEBER SYNDROME
STURGE-WEBER SYNDROME
DEFINITION:
A neurocutaneous syndrome characterized by facial nevus,
ipsilateral vascular anomalies and intracranial calcifications, and
contralateral hemiparesis, hemianopia, and seizures.
EPIDEMIOLOGY:
- incidence: 1/50,000
- age of onset:
- nevus (birth), seizures (<l year)
- risk factors:
- familial - ? inheritence pattern, sporadic
PATHOGENESIS:
- ? persistence of Streeter's primordial vascular plexus
- primary abnormality likely arises early in development when
the ectoderm which is to form the skin of the upper part of the
face overlies that part of the neural tube destined to form
occipital and adjacent parts of the cerebrum
- hemangiomas represent malformations of the blood vessels
- the basic lesion of SWS involves ipsilateral angiomas
(vascular tumors) of the skin, meninges, and choroid
PATHOLOGY:
- facial nevus (naevus flammeus) - port wine stain
- congenital usually unilateral but can be bilateral
2. Meningeal Angiomas
- involves leptomeningeal vascular anomales in the occipital
> parietal > temporal >>> frontal regions
- sluggish flow of blood in the affected area may lead to
anoxic injury in the underlying cortex resulting in atrophy
and calcification and the clinical manifestations of seizures,
mental retardation, and contralateral hemiparesis and
hemianopsia
- radiographically, the calcifications become visible by
late childhood and are often a curvilinear, parallel
configuration ("railroad track pattern") which is
pathognomonic for SWS in a child with facial nevus
3. Choroid Angiomas
- gives rise to a number of abnormalities
CLINICAL FEATURES:
- capillary nevus that is flat and blanches on pressure
- V1 distribution: upper face, superior eyelid, and
supraorbital region but may also involve V2 and V3 and cross
the midline
- may cause hypertrophy of the involved areas
- may involve the nasopharynx
2. Neurological Manifestations
- contralateral partial or secondarily generalized seizures
- usually begin in the first year of life
- increase in frequency and severity
- type, frequency, and severity do NOT correlate with the
extent of cutaneous involvement
- recurring Todd's paralysis which requires longer periods
to recover with eventual permanent paresis in one third
2. Hemiparesis
- gradually develops contralateral to the facial nevus
- associated with hemiatrophy of limbs, cortical sensory
deficits and hemianopia
- spasticity with pyramidal signs
3. Mental Retardation
- trend towards progression
- ? role of seizures vs the disease process itself
3. Ocular Manifestations
- affected area is a dark colour
- dilated retinal veins, ectopia lentis, optic atrophy
- homonymous hemianopia (33%)
2. Others
- iris heterochromia
- congenital (buphthalmos) or acquired glaucoma (25-50%)
INVESTIGATIONS:
- intracranial calcifications in 90% (railroad track
pattern)
2. CT/MRI
- leptomeningeal angiomatoses, atrophy of the cortex and
calcifications
MANAGEMENT:
- multidisciplinary approach
- Paediatrics, Neurology, Ophthalmology, Orthopedics, PT
2. Surgery
- ? role of surgery - limited resection of occipital lesions
vs lobectomies vs hemispherectomies
- ? timing of surgery - improvement only in those patients
operated on in childhood (1st 3 months of life)
3. Prognosis
- usually a progressive course with seizures becoming
resistent to medical management
INTERNET LINKS:
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Pediatric Database - STURGE-WEBER SYNDROME
Pediatric Organization - Pedbase [at] Gmail.com