INTRACEREBRAL HEMORRHAGE / VASCULAR MALFORMATIONS

David Goldemund M.D.
Updated on 09/11/2023, published on 02/11/2023

• Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a neurocutaneous disorder manifested by leptomeningeal and facial angiomas
  • the facial lesion, also referred to as a nevus flammeus or port-wine birthmark (PWB), is the hallmark of the disease
    • it is typically located in the ophthalmic and maxillary distributions of CN V with a sharp midline demarcation
    • it is caused by dilated dermal capillaries
      
  • leptomeningeal angiomatosis results in vascular steal affecting the adjacent cortex and white matter, causing localized ischemia
  • unilateral involvement occurs in ~ 80% of cases
• SWS is not typically characterized by stroke, but the venous malformation may predispose to venous (hemorrhagic) infarction (due to venous or sinus thrombosis)
• SWS-related stroke-like episodes may cause DDx difficulties (stroke mimics)

• SWS is a sporadic disease not associated with hereditary transmission (unlike other neurocutaneous disorders, such as neurofibromatosis or tuberous sclerosis)
• SWS occurs due to somatic mutations that are not inherited; mutation appears to cause alterations in the regulation of the structure and function of blood vessels, vascular innervation, and expression of extracellular matrix and vasoactive molecules
  • an associated gene mutation has been identified in the GNAQ gene (p.Arg183Gln) on chromosome 9 (at 9q21.2)
    • development of isolated port wine stains or SWS depends on what stage of embryonic development is affected
    • somatic pathogenic variants in GNAQ occurring at a later stage in embryogenesis may affect only precursors of vascular endothelial cells and lead to nonsyndromic port wine stains, while those occurring at an earlier stage affect a variety of precursor cells and cause SWS
  • atypical SWS associated with variants in GNA11 has been reported

SWS can be classified according to the presence/absence of facial and leptomeningeal angiomas (Roach, 1992):

• type I: classic syndrome (most common) with both facial and leptomeningeal angiomas ± glaucoma
  • seizures usually occur within the first year of life
  • in rare cases, the facial and brain involvement is bilateral
  • mental and physical development is impaired to varying degrees
• type II: facial angioma without evidence of intracranial disease ± glaucoma
• type III: isolated leptomeningeal angioma with no facial involvement, usually without glaucoma

• a congenital facial cutaneous capillary malformation (also known as port wine stain or nevus flammeus)
  • almost always present (95%)
  • usually involves the V1 or V2 portion of the trigeminal nerve
  • the nevus is most commonly unilateral and ipsilateral to the intracranial abnormality
• childhood epilepsy (up to 90% of cases)
  • seizures usually occur in the first few years of life and are often associated with developmental delay and hemispheric symptoms, including hemiplegia/hemiparesis and hemianopsia
  • often refractory to medical therapy
• ocular manifestations
  • choroidal or (epi)scleral angiomatosis
  • hemangioma-like superficial changes in the eyelid
  • retinal detachment
  • tortuous retinal vessels
  • buphthalmos (enlarged eyeball due to increased intraocular pressure)
  • glaucoma
• developmental delay, learning disabilities, attention deficit hyperactivity disorder
• macrocephaly
• stroke-like episodes
  • weakness or paresthesias on one (or both) sides of the body
  • a wide range of recovery times to baseline motor function was reported  (1 minute to 6 months, median: 24 hours)
  • exact etiology is unknown; it may be triggered by seizures or migraines, but it may also develop without any evidence of epilepsy
  • brain MRI rarely shows permanent infarcts typical for cerebrovascular events of arterial origin
• hemorrhagic venous infarction (rare)

• cerebral arteriovenous malformation (AVM)
• infection
  • TORCH infection (vertically transmitted infections that may cause severe fetal anomalies or fetal loss)
    • Toxoplasmosis
    • Other infections (e.g., Varicella-Zoster Virus, HIV, Syphilis)
    • Rubella
    • Cytomegalovirus (CMV)
    • Herpes Simplex Virus (HSV)
  • neurocysticercosis
• PHACE syndrome
  • also known as cutaneous hemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome
• radiation-induced injury
• Gobbi syndrome
  • combination of celiac disease, epilepsy, and bioccipital calcifications
• calcification secondary to intrathecal methotrexate therapy and meningitis
• Dyke-Davidoff-Masson syndrome
  • one cerebral hemisphere is partially or completely atrophic as a result of an intrauterine or perinatal carotid artery infarction

• seizure control (ASM ± surgery)
• symptomatic and prophylactic treatment of headaches
• glaucoma treatment
• laser therapy for skin lesions