Sturge-Weber Syndrome, Port Wine Stain, Kasabach-Merritt, Klippel-Trenaunay-Weber, type-1 (NF-1), tuberous sclerosis)
 

Sturge-Weber syndrome (SWS)

1. Sporadic occurrence
2. Facial port-wine stain in CN 5 distribution
3. Ipsilateral leptomeningeal angiomas w/ intracranial calcifications
4. High incidence of seizures, MR and behavior problems
5. Ocular problems (buphthalmos, coloboma, Glaucoma)

• The presence of a facial port-wine stain (PWS) 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 consists of ectatic dermal blood vessels.
  • At birth, a PWS may be pale pink
  • with time it becomes violaceous and thickened and may develop vascular nodules that bleed.
  • 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 PWSs 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 PWS 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 ipsilateral leptomeningeal vessels, particularly those in the parieto-occipital region. (hemangiomas of arachnoid and pia mater)
• Slow flow through these vessels causes hypoxic injury that, in turn, may result in seizures or contralateral hemiparesis. The vascular malformation also may affect the ipsilateral eye. Mental retardation is associated.
• Abnormalities of the choroid and episcleral vessels may lead to retinal detachment or glaucoma, respectively. Buphthalmos 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 PWS 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 consumptive coagulopathy.
• 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.

References:
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.
1995;12:59-77
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