A case of Sturge-Weber syndrome in associationwith phacomatosis pigmentovascularis anddevelopmental glaucomaArchana Gupta, DNB, Suneeta Dubey, MS, and Manisha Agarwal, MS

Sturge-Weber syndrome is a rare neurocutaneous disorder charac-terized by a facial nevus flammeus and extensive angiomatouschanges involving the leptomeninges, the dura, and vessels of thegray and white matter. Oculodermal melanocytosis is characterizedby hyperpigmentation of the facial skin in the distribution of theophthalmic, maxillary, and occasionally mandibular division of thetrigeminal nerve.

P hakomatosis pigmentovascularis (PPV) is a rare dis-order characterized by the association of cutaneousvascular and melanocytic lesions.1,2 Glaucoma can

occur in association with all of these syndromes.3 Wereport a case of PPV associated with oculodermal mela-nocytosis, Sturge-Weber syndrome, and glaucoma.

Case ReportA 13-year-old girl presented at Dr. Shroff’s Charity EyeHospital, New Delhi, India with a history of poor vision,reddish patches on the face and neck, and a grayish col-oration of the eyes since birth. There was a history oftrabeculectomy with trabeculotomy at age 1, followed bymedical treatment that was discontinued at age 7 years.On examination, the best-corrected visual acuity wasfinger counting on the right and 4/60 on the left. Themanifest refraction was �9.25 �2.50 � 30 on the rightand �8.50 �2.00 � 160 on the left. On external exami-nation, she had a port wine stain involving the upper face,lip, and right ear (Figure 1). There was slate gray pigmenta-tion on her nose and on the sclera of both eyes. Horizontaljerk nystagmus was present. On slit-lamp examination, botheyes had scarred, flat blebs, Haab’s stria, and a patentperipheral iridectomy at 12 o’clock (Figure 2). Pupils weremid-dilated on both sides, with sluggish reaction to light.On gonioscopy, both eyes had 360° of synechial closure;the sclerostomy was closed in the right eye and patent inthe left eye. The intraocular pressure was 38 mm Hg in the

Author affiliations: Department of Paediatric Ophthalmology, Department of Glaucoma,Department of Vitreoretina, Dr. Shroff’s Charity Eye Hospital, Daryaganj, New Delhi, India

Institute in which study was conducted: Dr Shroff’s Charity Eye Hospital, Daryaganj,New Delhi.

Submitted September 30, 2006.Revision accepted February 26, 2007.Reprint requests: Gupta Archana, Dr. Shroff’s Charity Eye Hospital, Kedarnath

Road, Daryaganj, New Delhi 110002, India (email: archanaguptamahajan@gmail.com).J AAPOS 2007;11:398-399.

Copyright © 2007 by the American Association for Pediatric Ophthalmology andStrabismus.

1091-8531/2007/$35.00 � 0doi:10.1016/j.jaapos.2007.02.016

398

right eye and 36 mm Hg in the left eye. The centralcorneal thickness was 599 �m on the right and 601 �m onthe left. The optic disk was completely cupped on theright, with a cup/disk ratio of 0.9 on the left. On fundusevaluation, both eyes had extensive lattice degenerationwith large atrophic holes. Fluorescein angiography dem-onstrated an anomalous veno-venous anastamosis tempo-ral to the macula, with an ectopic course of the superiortemporal venule away from the disk (Figure 3) in both eyes.A computed tomographic scan of the brain was normal.

The lattice degeneration was treated with a laser indi-rect ophthalmoscope. Medical glaucoma therapy (topicaltimolol maleate 0.5% in both eyes twice daily, latanoprost0.005% drops in both eyes at night, and dorzolamide 2%in both eyes three times a day) failed, reducing the pres-sure only to 34 mm Hg on the right and 28 mm Hg on theleft. A repeat trabeculectomy with mitomycin C was per-

FIG 1. External photograph showing the port wine stain and ocularmelanosis.

FIG 2. Slit-lamp photograph of the left eye of the patient.

formed on the right eye. On postoperative day 1, the

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patient had a shallow anterior chamber with an elevatedbleb and a pressure of 4 mm Hg. B-scan ultrasonographyshowed a serous choroidal effusion which resolved bypostoperative day 7. The intraocular pressure increased to12 mm Hg at that time and was maintained at that level for3 months of follow-up. Filtering surgery is scheduled forthe left eye.

DiscussionSturge-Weber syndrome is a congenital vascular malfor-mation involving the facial skin, usually in the distributionof the trigeminal nerve. Glaucoma occurs in 30 to 70% ofpatients.5 The mechanism of glaucoma can be explainedby what is known as the Weiss dual origin hypothesis,which states that isolated trabeculodysgenesis causes in-traocular pressure elevations in the first 2 years of life,while raised episcleral venous pressure is responsible forglaucoma occurring later in life.6

Oculodermal melanocytosis is a hamartoma of dermalmelanocytes characterized by blue or gray patches on theface in the distribution of the trigeminal nerve. Approxi-mately 30% also have ocular hyperpigmentation. Glau-coma is associated in 10% of cases and may be due todirect infiltration of the angle by melanocytes or associatedSturge-Weber syndrome.

Nearly 200 cases of PPV have been reported worldwide,most of them of Japanese origin.7 The most commonmelanocytic lesion associated with PPV is the slate gray toblue discoloration typical of Mongolian spots but moreextensive in distribution. Children with PPV may havesystemic features associated with Sturge-Weber syn-drome. Although the cause of PPV is unknown, it has beenproposed that the combination of vascular and pigmentaryanomalies arise as a result of a genetic concept called the

FIG 3. Fluorescein angiogram of the right eye showing anomalous venousconnection.

twin-spotting phenomenon.2,4,7 PPV appears to have a

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racial preponderance for Southeast Asia with only a fewisolated case reports reported from other areas.

A recent classification8 of neural crest disorders thatinvolve episcleral vascular malformations plus hyperpigmen-tation groups Sturge-Weber syndrome, Klippel Trenaunaysyndrome, oculodermal melanocytosis, and PPV. Thesediseases may be parts of the same spectrum, which explainsthe disease combinations reported.

Congenital glaucoma may occur in association with ei-ther of these conditions. Glaucoma is less commonly re-ported in patients with PPV, although it was described innine Thai patients by Teekhasaenee and Ritch.3 Our caseis unique in being the only case of its kind reported fromthe Indian subcontinent.

Filtering surgery augmented with antimetabolites is re-quired in most cases. However, the rate of intraoperativesuprachoroidal hemorrhage and serous choroidal effusionswith postoperative expansion of the choroidal hemangi-oma are high. Surgeons now believe that slow globe de-compression is the best prophylaxis.9

Recent publications9,10 report a higher success rate offiltering surgery in such cases if adequate preoperative andintraoperative precautions are undertaken. We followedthe recommendations of Eibschitz-Tshimoni et al9 andMandal et al10 to maintain preoperative hypotony usingpreoperative mannitol 20%, to minimize the surgical time,and to maintain the anterior chamber using preplacedsutures and viscoelastics.

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