Fact-sheet: Sturge-Weber-Dimitri syndrome
Updated on 04/17/2018 at 10:09 AM
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Definition
Phakomatosis corresponding to a metameric embryonic anomaly responsible for an association of:
- Facial port-wine stain in the trigeminal distribution
- Pial angioma --> 80% risk of epilepsy in case of pial angioma.
- Ocular abnormalities
Pial angioma is found in 10 to 20% of trigeminal angiomas, most often ipsilateral and posterior, occasionally bilateral
Rare syndrome (incidence 1/20,000 to 50,000)
Clinical features
- facial port-wine stain (often leads to the diagnosis)
- involvement of the ophthalmic branch of the trigeminal nerve (V1)
- intracranial involvement in 5% of cases (pial angioma) responsible for epilepsy often refractory to medical treatment and for psychomotor delay
Radiography
Historically, skull radiographs were used to detect subcortical gyriform calcifications
No longer used
CT
- Leptomeningeal angioma, the enhancement of which is often obscured by subcortical gyriform calcifications
- Ipsilateral parenchymal atrophy, often parieto-occipital, associated with compensatory thickening of the skull and frontal sinus
- Enlargement and calcification of the choroid plexus ipsilateral to the pial angioma
- Venous developmental anomalies
MRI
T1: normal signal, parenchymal atrophy
T1 after injection: enhancement of the leptomeningeal angioma
T2: hyposignal in the white matter underlying the angioma representing:
- accelerated myelination in the neonatal period
- calcifications later on
- draining veins later on
Spectroscopy: decreased NAA
Vascular intervention
Abnormalities of the superficial cortical veins with development of large draining veins
Classification
Roach classification:
- Type 1: Facial angioma with pial angioma
- Type 2: Facial angioma without pial angioma
- Type 3: Pial angioma without facial angioma
Differential diagnosis
- arteriovenous malformation
- infections: TORCH (toxoplasmosis, other, rubella, cytomegalovirus, herpes), neurocysticercosis
- sequela of cortical infarction
- sequela of radiotherapy
- PHACE syndrome (posterior fossa malformations, capillary hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities)