Sturge-Weber Syndrome, Port Wine Stain, Kasabach-Merritt,
Klippel-Trenaunay-Weber, type-1 (NF-1), tuberous sclerosis)
Sturge-Weber syndrome (SWS)
- Sporadic occurrence
- Facial port-wine stain in CN 5 distribution
- Ipsilateral leptomeningeal angiomas w/ intracranial calcifications
- High incidence of seizures, MR and behavior problems
- Ocular problems (buphthalmos, coloboma, Glaucoma)
- The presence of a facial port-wine
and seizures is consistent with Sturge-Weber syndrome (SWS). Diagnosis
requires involvment of the opthalmic division of trigeminal nerve.
- About Port-wine stains in general...A PWS is a permanent vascular malformation that is present at birth and
dermal blood vessels.
- At birth, a PWS may be pale pink
- with time
it becomes violaceous and thickened and may develop vascular nodules that
- Although a PWS may occur anywhere on the body,
lesions located on the face,
especially around the eye, may be associated with central nervous
system (CNS) or ophthalmic involvement.
- In a study of 274 patients who had
involving the distribution of the trigeminal nerve, 8% had associated
CNS or eye disease manifested as seizures or glaucoma, respectively.
- In all of those who had these complications, the PWS was located in the
distribution of the first (including
the upper eyelid) or second (including the lower eyelid) branches of
the trigeminal nerve.
- Additionally, the risk for CNS
or eye disease was increased if the
was bilateral or, if unilateral, it involved the distribution of all three
branches of the trigeminal nerve.
- In children who have SWS, the vascular malformation involves not only the
skin, but also the
vessels, particularly those in the
region. (hemangiomas of arachnoid and pia mater)
- Slow flow through these vessels
causes hypoxic injury that, in turn, may result in
vascular malformation also may affect the ipsilateral eye.
Mental retardation is
- Abnormalities of the choroid and episcleral vessels may lead to
retinal detachment or glaucoma,
describes the large, swollen and ox-like eye seen in infantile glaucoma due to
increased intraocular pressure.
- Plain films of the skull show "tram-line calcification," tramline gyriform
patterns of intracranial calcification in the subcortical region, primarily in
the parietal and occipital regions.
- For these reasons, an experienced
pediatric neurologist and pediatric ophthalmologist should be consulted
whenever a child who has a facial
is suspected of having SWS.
- Most cases are sporadic
Although infants who have Kasabach-Merritt or Klippel-Trenaunay-Weber
syndromes have cutaneous vascular anomalies, clinical features of these
disorders permit their differentiation from SWS.
- Infants who have Kasabach-Merritt syndrome develop a solitary,
often rapidly enlarging, atypical-appearing hemangioma (actually a
hemangioepithelioma) that sequesters
platelets and fibrinogen, causing thrombocytopenia and a localized
- Klippel-Trenaunay-Weber syndrome is a condition in which a PWS or
other vascular malformation located on an extremity is associated with
overgrowth of that extremity.
Infants who have neurofibromatosis type-1 (NF-1) or tuberous sclerosis do not
exhibit characteristic cutaneous vascular anomalies.
- NF-1 is an autosomal dominantly inherited disorder; café au lait
macules are the hallmark of the disease and often are the earliest
manifestation. Children who have NF-1 also may exhibit axillary or inguinal
freckling, but neurofibromas generally do not appear until adolescence.
- Tuberous sclerosis, another neurocutaneous disorder, is
characterized by seizures, mental retardation, and adenoma sebaceum. The
earliest cutaneous sign of tuberous sclerosis, often present at birth, is the
ash-leaf macule. These hypopigmented spots may be single or multiple and
typically are located on the trunk and extremities. Other characteristic skin
findings, including the shagreen patch, adenoma sebaceum, and periungual
fibromas, generally do not occur until late childhood or adolescence.
Enjolras O, Mulliken JB. Vascular malformations. In: Harper J, Oranje
A, Prose N, eds. Textbook of Pediatric Dermatology. Malden, Mass:
Blackwell Science, Ltd; 2000:975-1016
Orlow SJ. When to suspect a neurocutaneous disorder. Contemp Pediatr.
Tallman B, Tan OT, Morelli JG, et al. Location of port-wine stains and
the likelihood of ophthalmic and/or central nervous system
complications. Pediatrics. 1991;87:323-327