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Year : 1990  |  Volume : 38  |  Issue : 4  |  Page : 195-197

Unusual retinal manifestation in a combination of Sturge-Weber and Klipplel-Trenaunay syndrome-A case report

Dr. Rajendra Prasad Centre for Opthalmic Sciences, A.I.I.M.S., New Delhi-110 029, India

Correspondence Address:
Pradeep Sharma
Dr. Rajendra Prasad Centre for Opthalmic Sciences, A.I.I.M.S., New Delhi-110 029
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Source of Support: None, Conflict of Interest: None

PMID: 1964931

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An unusual retinal manifestation of arteriovenous communications is reported in a case showing a combination of Sturge-Weber and Kippel-Trenaunay syndromes. The arteriovenous communications are thought to be similar to those seen in the limbs in Parkes-Weber syndrome. This retinal finding indicates that the three syndromes are intricately related to each other and may be an incomplete manifestation of a single pathophysiologic entity which may be named neurocutaneous angiomatosis.

Keywords: Sturge-Weber syndrome, encephalofa-cial angiomatosis, retinal arteriovenous anastomosis, Klipel-Trenaunay Syndrome, Parkes-Weber Syndrome.

How to cite this article:
Sharma P, Arya A V, Azad R V. Unusual retinal manifestation in a combination of Sturge-Weber and Klipplel-Trenaunay syndrome-A case report. Indian J Ophthalmol 1990;38:195-7

How to cite this URL:
Sharma P, Arya A V, Azad R V. Unusual retinal manifestation in a combination of Sturge-Weber and Klipplel-Trenaunay syndrome-A case report. Indian J Ophthalmol [serial online] 1990 [cited 2020 Aug 13];38:195-7. Available from: http://www.ijo.in/text.asp?1990/38/4/195/24518

Sturge-Weber syndrome or encephalofacial an­giomatosis is a phakomatosis with the usual presenta­tion of facial nevus flammeus, glaucoma and epilepsy of early onset. [1],[2] Ocular manifestations apart from glaucoma or buphthalmos are choroidal angioma, iris hypochromia, nevoid marks or vascular dilations of the episclera and retinal detachment. [3]Overlapping of clini­cal findings of Kippel-Trenaunay and Sturge-Weber syndromes have been reported [4],[5 ]suggesting a nosocomial relationship between the two syndromes. We report an unusual case with overlapping features of Klippel-Trenaunay and Sturge-Weber syndromes and retinal manifestation of arteriovenous communications on fluorescein angiography. This finding has not been reported in the literature to the best of our knowledge. Its relevance in the understanding of pathogenesis of these syndromes is discussed.

  Case report Top

NS, a 15-year-old male attended the outpatient depart­ment with the complaints of recurrent seizures since the age of 11/2 years. These were described as complex parietal fits by the neurologist. The parents had ob­served a large, flat, red birth mark and inequality in size of the hands since birth. Developmental history sug­gested delayed milestones.

On examination, the patient was of average build with a large port-wine stain on the left side of the face with left sided facial hem i-hypertrophy[Figure - 1]. The nevus flam­meus descended on to the neck, chest, left arm and hand and both legs from thighs to soles. The stain blanched on pressure and the left hand was larger than the right hand[Figure - 2]. The cardiovascular, respiratory and genito-urinary system were normal. Neurological examination revealed diminution of vibration sense in the upper and lower limbs.Otological examination sug­gested left sided sensori-neural deafness and heman­gioma of the left tympanum. Electroencephalography showed multifocal epilepsy arising from the left and the right temporal region with left hemispheric damage. Radiological examination of the skull showed occipital tram-track calcifications.

Ocular examination revealed best corrected vision to be 6/6 on the Snellen's chart with +0.5 D sphere lenses in either eye. The right eye was essentially normal while in the left eye conjunctiva, cornea and anterior chamber were normal. There were no signs of rubeosis iridis which was confirmed by iris fluorescein angiography. Gonioscopic examination revealed prominent iris processes with blood in Schlemm's canal. Ophthalmos­copy showed glaucomatous cupping of the disc, retinal tortuosity and arteriovenous shunts with venous sheath­ing of the suprotemporal vein. On fluorescein angiog­raphy venous tortuosity, venous venous communications and arteriovenous communication were seen [Figure - 3],[Figure - 4],[Figure - 5]. No leak was observed. No choroidal or retinal angioma was seen. The intraocular pressure on applanation tonometry was 12 mm. in the right eye and 32 mm in the left eye. Visual fields showed a left homonymous hemianopia.

The epilepsy was controlled medically and the in­traocular pressure was controlled by Timolol maleate drops 0.5% adminstered twice a day in the left eye.

  Discussion Top

Sturge-Weber syndrome classically involves three sys­tems: ocular, cutaneous and neurological, all of which are neuroectodermal in origin. Variants from the classi­cal presentation are known, which may be trisymptomatic or bisymptomatic. [3]Besides these variants, combinations with Klippel-Trenaunay have been reported [4],[5] suggesting nosocomial relationship between these syndromes which may manifest com­pletely or incompletely.

Retinal manifestations reported in Sturge-Weber syndrome have been tortuosity and dilation of retinal vessels particularly veins, [6] pronounced reduction of size of the retinal arteries and sheathing of both arteries and veins [7] and anastomotic veins surrounding the macula. [8] Observation of artiovenous communication in the retina is an unusual finding observed by us. In light of the presence of features of Klippel-Weber syndrome, this finding of arteriovenous anastomosis brings into the picture the third syndrome which usually forms a trian­gular association with Parkes-Weber syndrome. It was Schnyder et al [9] who first bridged the gaps between these three syndromes i.e. Klippel-Trenaunay, Parkes­Weber and Sturge-Weber syndromes. They suggested that these three syndromes are variants with a common feature of local gigantism and hemangioma. Involve­ment of the head and neck with manifestations of menin­geal angiomatosis causing epileptic fits and choroidal hemangioma or glaucoma results in a manifestation of Sturge-Weber syndrome. Local gigantism and heman­gioma of the limbs with osteohypertrophy presents as Klippel-Trenaunay or Parkes-Weber syndrome, depending on whether there are peripheral varices which causes Klippel-Trenaunay Syndrome or arteriovenous anastomosis which would result in a pic­ture of Parkes-Weber syndrome. It suggests that the basic pathology of all the three is the same but different presentations are observed depending on differential involvement. The other feature of the syndromes are supposed to be secondary to the primary involvement of the neuro-ectodermal vasculature.

The presence of the features of Sturge-Weber syndrome i.e. nevus flammeus, unilateral glaucoma and epileptic fits with characteristic radiological tram-track signs and features of Klippel-Trenaunay syndrome (Os­teohypertrophy of the left upper and both lower limbs) and a new retinal manifestation of arteriovenous anas­tomosis which is similar to the arteriovenous anas­tomosis of the peripheral limbs described in Parkes-Weber syndrome indicates a rare combination. It indicates a common pathogenetic basics for the three syndromes known by various names. We would like to refer them as 'Neuro-cutaneous Angiomatosis' which encompasses the entire spectrum of variegated ap­pearance of this group of three syndromes.

  References Top

Sturge WA. A case of partial epilepsy apparently due to a lesion of one of the vasomotor centres of the brain. Trans Clin Soc London 1879:12:162.  Back to cited text no. 1
Weber FP. Right sided hemihypertrophy resulting from right sided con­genital spastic hemiplegia with a morbid condition of the left side of the brain revealed by radiograms. J Neurol Psychopathol 1922: 3:134.  Back to cited text no. 2
Alexander G L. Sturge-Weber syndrome. In : Vinken P H and Bruyn G W. ed. Handbook of Clinical Neurology. Amsterdam: North-Holland Publishing Co. 1972: 14 : Chapter 7: 223-240.  Back to cited text no. 3
Kramer W : Syndromes of Klippel-Trenauney and Sturge-Weber in the same patient. Psychiater Neurol Neurochir 1963 : 66:362-370.  Back to cited text no. 4
Furukawa T, Igata a, Toyokura Y. Ikeda S. Sturge-Weber and Klippel Trenauney syndrome with nevus of Ota and Ito. Arch Dermat 1970: 102 : 640-4.  Back to cited text no. 5
Walsh F B, Hoyt W F. in Clinical Neuro Ophthalmology Walsh F B, Hoyt W F. The Williams and Wilins Co. Baltimore 1969. Vol.3 Ed. 3 pp. 1980.  Back to cited text no. 6
O'Brein CS. Porter WC. Glaucoma and nevus flammeus. Arch Ophthal (Chicago) 1933: 9:715-728.  Back to cited text no. 7
Bar c. Embemerkenswerter Fall von Feuermal and Glaukon Z Augen heik 1925: 57:628-630.  Back to cited text no. 8
Schnyder U W, Landolt E. Martz G. Syndrome de Klippel-Trenaunay avec colombe irien atypique. J Genet hum 1956: 5:1-8.  Back to cited text no. 9


  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]


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