Reprints:Subhash Dadeya, MD, Assistant Professor of Ophthalmology, Maulana Azad MedicalCollege, Delhi-2, India; e-mail dadeya86@hotmail.com.

Dr. Dadeya is from the Department of Ophthalmology, Maulana Azad Medical College,New Delhi, India. Drs. Malik, Gulliani, and Bajaj are from the Department of Ophthal-mology, Safdarjung Hospital, Delhi, India. Dr. Lal is from the Department of Radiodi-agnosis, All India Institute of Medical Sciences, Delhi, India.

The authors have stated that they do not have a significant financial interest or otherrelationship with any product manufacturer or provider of services discussed in thisarticle.

C A S E R E P O R T

The Sturge-Weber syndrome is a neurocutaneousvascular phakomatosis often associated with glau-

coma.1 It is characterized by vascular malformation inthe craniofacial region. Intracranial, choroidal, andport-wine hemangioma of the face are commonly seenwith Sturge-Weber syndrome.2 The common deriva-tion of meningeal, choroidal, and facial vessels mayexplain a congenital malformation of all 3 areas.3 Man-dal4 has described congenital syndactyly associatedwith Sturge-Weber syndrome.

We herein describe a patient with typical Sturge-Weber syndrome, who had the unusual association ofspina bifida.

Case ReportA 12-year-old girl with a left-sided port-wine heman-gioma of the face reported a 6-month history of wors-ening of vision in the left eye. Ophthalmicexamination revealed a port-wine hemangioma thatinvolved the upper and lower eyelids, brow, and fore-head on the left side. Her visual acuity was fingercounting at 0.5 m with accurate projection of rays.Anterior segment examination revealed no abnormal-ity. The pupil was normal in size and reactive to light.Intraocular pressure was 34 mm Hg by applanationtonometry, raising the suspicion of glaucoma. Angleswere open on gonioscopy. Fundus examinationrevealed a cup-to-disc ratio of 0.9:1. A diffuse

Subhash Dadeya, MD, K. P. S. Malik, MS,MNAMS, FICS, B. P. Gulliani, MS, Seema Bajaj,MS, & Hira Lal, MD

Sturge-Weber Syndrome With SpinaBifida: An Unusual Association

A 12-year-old girl with a port-wine hemangioma on the left side of

her face reported worsening vision in the left eye. Intraocular pres-

sure was 34 mm Hg. On the basis of the port-wine hemangioma, optic

disc cupping, diffuse choroidal hemangioma, and gyrate calcifica-

tion, a diagnosis of Sturge-Weber syndrome with juvenile glaucoma

was made. The patient also had spina bifida, a previously unde-

scribed association with Sturge-Weber syndrome. Her glaucoma was

controlled with medications.

A B S T R A C T

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ANN OPHTHALMOL. 2002;34(4) 227

choroidal hemangioma was detected on fluoresceinangiograms (Fig 1). Ultrasonography showed a 3.2-mmchoroidal thickness on the left side of the face com-pared with 1.2 mm on the right side. The results of theneurologic examination were normal. An x-ray of theskull revealed gyrate calcification. However, the com-puted tomographic (CT) scan was within normal lim-its. A spinal x-ray revealed spina bifida (Fig 2).However, no other bony abnormality could be detect-ed. The right eye was normal.

On the basis of the port-wine hemangioma, 0.9:1optic disc cupping, diffuse choroidal hemangioma,gyrate calcification, and spina bifida, a diagnosis ofSturge-Weber syndrome with juvenile glaucoma andspina bifida was made. The patient was started on acourse of 0.5% brimonidine twice a day and 0.005%latanoprost once a day. After 6 months of follow-up,her intraocular pressure was 16 mm Hg in the left eye.The patient’s intraocular pressure is now well con-trolled with medical management, and she receivesregular follow-up.

DiscussionThe Sturge-Weber syndrome is considered a rare neu-rocutaneous disorder pathologically involving 3 phys-iologic systems. Neurologically, the patient exhibitsepilepsy, mental retardation, and hemiplegia; ophthal-mologically, there is childhood-onset glaucoma andvascular malformation of the anterior segment,choroid, and retina; and dermatologically, there is evi-dence of nevus flammeus.5 Glaucoma has been esti-mated to occur in approximately 30% of all patientswith Sturge-Weber syndrome,6 developing in latechildhood or early adulthood in 40% of these patients.7

The onset of glaucoma in the second decade of life isthought to be secondary to elevated episcleral venouspressure according to the Weiss dual-origin hypothe-sis.8 Glaucoma associated with Sturge-Weber syn-drome may be extremely difficult to control withmedications.9 However, in our case the intraocularpressure was well controlled medically. Diffuse

choroidal hemangioma is a benign intraocular tumorthat is commonly associated with Sturge-Weber syn-drome.10 Choroidal hemangioma occurs in 40% ofcases of Sturge-Weber syndrome2 and glaucoma devel-ops in 88% of these eyes.11

Diseases and malformations of cells derived fromthe neural crest have been grouped under the termneurocristopathies. The exact etiology of Sturge-Weber syndrome is not known, but it is thought to bedue to either abnormalities in the migration of neuralcrest cells or terminal interference with cellular inter-action.12-14 An association of malformations of shouldergirdle, upper spine, and craniofacial malformationswith Sturge-Weber syndrome can be explained on thebasis of abnormalities in neural crest cell migration.15

The presence of spina bifida in this case and the bilat-eral symmetrical syndactyly reported by Mandal4 cer-tainly represent a congenital anomaly and do notimply a common cause of Sturge-Weber syndrome. Tothe best of our knowledge, the association betweenspina bifida and Sturge-Weber syndrome has not beenpreviously described. However, these bony abnormal-ities indicate that congenital malformations probably

Fig 1.—Fluorescein angiograms of same patient showing diffuse choroidalhemangioma.

Fig 2.—X-ray of spine showing spina bifida.

ANN OPHTHALMOL. 2002;34(4)228

play a role in the etiopathogenesis of Sturge-Webersyndrome. Therefore, the ophthalmologist must referpatients with this syndrome to appropriate specialiststo be examined for other possible congenital abnor-malities and for their proper management.

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15. Albert DM, Jakobiec FA, eds. Embryology of the anterior segmentof human eye. In: Jakobiec FA. Albert DM, eds. Principles andPractice of Ophthalmology. Clinical Practice. Vol 1. Philadelphia,Pa: WB Saunders Co; 1994:23.