= ENCEPHALOTRIGEMINAL ANGIOMATOSIS = MENINGOFACIAL ANGIOMATOSIS

[William Allen Sturge (1850–1919), physician and pathologist to the Royal Free Hospital in London, England

Frederick Parkes Weber (1863–1962, dermatologist and honorary physician to the German Hospital, Queen Square, London, England

Vincente Dimitri (1885–1955), Austrian dermatologist in Argentina]

= vascular malformation with capillary venous angiomas in distribution of trigeminal nerve with ipsilateral leptomeningeal malformation + atrophy + calcification of subjacent cerebral cortex, malformation of choroid of eye, and face

Cause: persistence of transitory primordial sinusoidal plexus stage of vessel development; usually sporadic

• seizures (80%) in 1^st year of life: usually focal involving the side of the body contralateral to nevus flammeus
• mental deficiency (>50%); homonymous hemianopia
• increasing crossed hemiparesis (35–65%)
• hemiatrophy of body contralateral to facial nevus ← hemiparesis
• FACIAL MANIFESTATION
  • congenital facial port-wine stain (nevus flammeus) = telangiectasia of trigeminal region; usually 1^st ± 2^nd division of 5^th nerve and usually unilateral
    • V1 associated with occipital lobe angiomatosis
    • V2 associated with parietal lobe angiomatosis
    • V3 associated with frontal lobe angiomatosis
  • CNS MANIFESTATION
    • leptomeningeal venous angiomas confined to pia mater
      Location: parietal >occipital >frontal lobes
    • cortical hemiatrophy beneath meningeal angioma ← anoxia (steal)
    • “tram track” gyriform cortical calcifications >2 years of age; in layers 2-3 (-4-5) of opposing gyri underlying pial angiomatosis; bilateral in up to 20%
      Location: temporoparieto-occipital area, occasionally frontal, rare in posterior fossa
    • subjacent white matter hypodense on CT
    • slight prolongation of T1 + T2 relaxation times (gliosis)
    • choroid plexus enlargement ipsilateral to angiomatosis
    • ipsilateral thickening of skull + orbit ← bone apposition as result of subdural hematoma ← brain atrophy
    • elevation of sphenoid wing + petrous ridge
    • enlarged ipsilateral paranasal sinuses + mastoid air cells
    • thickened calvarium (= widening of diploic space)
    
    Angio:
    • capillary blush
    • abnormally large veins in subependymal + periventricular regions
    • abnormal deep medullary veins draining into internal cerebral vein (= venous shunt)
    • failure to opacify superficial cortical veins in calcified region ← markedly slow blood flow / thrombosis of dysgenetic superficial veins
• ORBITAL MANIFESTATION (30%)
  Site: ipsilateral to nevus flammeus
  • congenital glaucoma (30%)
  • choroidal hemangioma (71%)
  • dilatation and tortuosity of conjunctival + episcleral + iris + retinal vessels
  • buphthalmos
    Cx: retinal detachment
• VISCERAL MANIFESTATION
  • localized / diffuse angiomatous malformation
  
  Location: intestine, kidneys, spleen, ovaries, thyroid, pancreas, lungs
  DDx: Klippel-Trénaunay syndrome, Wyburn-Mason syndrome