Sturge-Weber Syndrome

SHANNON YONTS, MD (PGY-2)

MORNING REPORT 8/20/10
 Sturge-Weber Syndrome

Sporadic congenital disorder

Characteristics
 Facial capillary malformation (port wine stain)
 Ipsilateral CNS vascular malformation (leptomeningeal
angiomatosis)
 Vascular malformation of the choroid of the eye
 Associated with glaucoma
 Etiology

Unknown
Hypothesis
 Mutation in fetal ectodermal tissues that lead to inappropriate
maturation of capillary blood vessels
 Cutaneous Manifestations
 Only a small number of children
with port-wine stains have
Sturge-Weber
 In Sturge Weber
 Port wine stain is on the forehead
and upper eyelid
 Distribution of 1st or 2nd division of
the trigeminal nerve
 Extension to both sides of face and
trunk is common
 Port-wine stain changes with age
 Size increases as the patient
grows
 Newborn – flat, pink
 Darkens with age and vascular
ectasias develop
 Lead to overgrowth of underlying
soft tissue and bone
 Port-wine stain and association to CNS findings

Upper and lower eyelid

involved
 90% associated with
leptomeningeal angioma
One eyelid involved
 10% associated with
leptomeningeal angioma
 Leptomeningeal Angioma

Usually same side as port-wine stain

Most commonly affects parietal and occipital
Appearance of leptomeninges
 Thick with increased vascularity
 Fill subarachnoid space
 Underlying parenchyma may be atrophic and have calcific
deposits
 Ocular Manifestations

Glaucoma – predominant abnormality

Vascular malformations of the conjunctiva, epislera,
choroid and retina
Risk of glaucoma is highest in 1st decade
Congenital glaucoma is present in 50%
 Neurologic Features

Seizures
 Occur in 80%
 Usually start in early childhood
 Often first symptom
 Often initially focal seizures, progress to generalized
 Onset <1 yr – greater likelihood of cognitive impairment
Hemiparesis
 Often develops acutely with the onset of seizures
 Deficit contralateral to facial and CNS lesions
 Affected extremity has decreased growth  hemiatrophy
Cognitive delay
 Typically normal for several months, then manifest delay
 Imaging

Neuroimaging helpful for prognostic information

MRI preferred
CT and x-ray can identify calcifications
Leptomeningeal involvement may not be detected at
infancy