Sturge-Weber syndrome
Description
Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder characterised by capillary-venous malformations involving the skin, leptomeninges, and ocular structures.
The hallmark clinical triad includes facial port-wine stain (nevus flammeus), leptomeningeal angiomatosis, and ocular involvement, typically glaucoma. The syndrome arises from post-zygotic somatic mosaic mutations in the GNAQ gene, leading to abnormal vascular development.
Clinically, SWS presents with a facial port-wine stain—commonly distributed along the ophthalmic division of the trigeminal nerve (V1)—progressive neurological impairment (seizures, stroke-like episodes, cortical calcifications), and ocular abnormalities (glaucoma, choroidal hemangioma). Intellectual disability, hemiparesis, and behavioural issues may also occur. Disease severity and progression vary depending on the timing and distribution of the genetic mutation.
First systematically described by William Allen Sturge in 1879, with pivotal pathological confirmation by Siegfried Kalischer and radiological contributions by Frederick Parkes Weber, SWS remains a key syndrome within the phakomatoses (neurocutaneous disorders). Contemporary understanding highlights the role of somatic mosaicism in its pathogenesis.
Clinical Pearls & Diagnostic Criteria
Classic clinical triad:
- Facial port-wine stain (nevus flammeus): typically unilateral, V1 distribution (forehead/upper eyelid), present from birth.
- Leptomeningeal angioma: ipsilateral to port-wine stain, involving cerebral cortex → seizures, stroke-like episodes, cortical calcifications.
- Glaucoma: ipsilateral to port-wine stain; may be congenital or develop in infancy or later.
Mnemonic: FACE
- F — Facial port-wine stain
- A — Angioma of leptomeninges (brain involvement)
- C — Calcifications and Cortical atrophy
- E — Eye involvement (glaucoma, choroidal angiomas)
History
1860 – Rudolf Schirmer (1831–1896) reported facial telangiectasia and buphthalmos in his article Ein Fall von Telangiektasia. He described a 36-year-old man with a left facial naevus and buphthalmos, but
he made no allusion to epilepsy or brain disease.
1879 – William Allen Sturge (1850-1919) presented a 6½-year-old girl with facial port-wine stain, seizures, and glaucoma to the Clinical Society of London – A case of partial epilepsy, apparently due to a lesion of one of the vasomotor centres of the brain. He detailed focal twitching of the left side of her body at 6 months of age which later spread to the other side with loss of consciousness.
The patient was born with a very extensive ‘mother’s mark‘ on the right side of the head and face. The mark is bounded pretty accurately by the middle line in the upper lip, nose, forehead, scalp, and back of the neck, extending a little beyond the middle line on the chin and on the upper part of the sternum…The mark is everywhere of a deep purple colour, the colour partially disappearing on firm pressure. All the parts affected are distinctly larger than the corresponding parts on the opposite side.
The right eye is affected in a similar way both in its superficial and deep structures. It is larger than the left; the sclerotic is more vascular than usual, and with the ophthalmoscope it can be seen that the retina and choroid are involved.
The point to which I wish to call particular attention is the probable relationship between the mark and the fits…the fits for a long time were confined to the left side opposite to the port- wine mark…they begin in the left hand with a sensory warning of considerable duration, and sometimes appear to consist only of a sensation of some kind in that hand. From the nature of the fits, and from their mode of onset…the cause is in all probability to be found in the presence of a ‘port- wine mark’ on the surface of the right side of the brain, just as we have found it in the skin, mucous membranes, and retina of that side.
1898 – Lannois-Bernoud further described clinical features of encephalofacial angiomatosis.
1901 – Siegfried Kalischer (1862–1954) provided first histopathological confirmation of leptomeningeal angiomatosis.
1922 – Frederick Parkes Weber (1863–1962) demonstrated characteristic intracranial calcifications via radiographs in his article “Right-sided hemi-hypertrophy resulting from right-sided congenital spastic hemiplegia… a morbid condition of the left side of the brain, revealed by radiograms.”
1923 – Vincente Dimitri reported congenital cerebral cavernous angioma. “Tumor cerebral congénito (angioma cavernosum).”
1934 – Knud Haraldsen Krabbe (1885–1961) detailed facial and meningeal angiomatosis with brain calcifications.
1935 – Hilding Bergstrand coined the term Sturge-Weber syndrome.
1946 – Weber analysed the clinical findings and history of the disease in his book ‘Rare diseases and some debatable subjects’, in the chapter on Sturge-Kalischer disease.
The patient was indeed a remarkable sight. She was a rather obese young woman with a fleshy face, much of which, especially the left side, was scarlet or purple owing to a very large telangiectatic naevus; on the left side she had an ‘ox-eye’ (buphthalmos, congenital glaucoma), and the right half of her body was smaller than the left half and also hemiparetic, pointing to a lesion on the left side of the brain.
Because the X-ray findings by Dr James Metcalfe in my case proved the existence of a more or less calcified and apparently ‘festooned’ lesion on the surface of the left cerebral hemisphere, Krabbe
suggested the term ‘Parkes Weber-Dimitri disease’, V. Dimitri in the Argentine, having described the X-ray findings in a similar case in 1923. But in 1935 Professor Hilding Bergstrand called the condition the ‘Sturge-Weber disease, because of the priority of Dr W. Allen Sturge’s account in 1879
1963 – Scottish ophthalmic surgeon, Sir Stephen James Hamilton Miller (1915–1996) provided a a comprehensive ophthalmic review of SWS. He reviewed the original ophthalmic report by Edward Nettleship (1845-1913) from 1879
Ophthalmoscope – Right disc much redder than left. Choroid. – The general colour is very markedly darker and at the same time redder in the right than the left eye. The difference is not what we should expect if it were due to the pigment being more abundant in one eye than the other; it is suggestive of venous or venous and capillary hypertrophy like that on the skin
and concluded…
This report indicates that Sturge’s original case presented a vascular disturbance in the choroid of the buphthalmic eye. Sturge’s patient also suffered from hemiparesis and epilepsy and he maintained, rightly, that the neurological component of he syndrome was due to a naevoid condition of the brain, akin to that of the patient’s face.
Associated Persons
- Rudolf Schirmer (1831-1896)
- William Allen Sturge (1850-1919)
- Siegfried Kalischer (1862–1954)
- Frederick Parkes Weber (1863–1962)
- Edward Nettleship (1845-1913)
- Sir Stephen James Hamilton Miller (1915–1996)
Alternative names
- Sturge-Kalischer Disease (Weber, 1946)
- Encephalofacial angiomatosis
- Weber-Dimitri disease (angioma of brain revealed by radiography)
References
Historical references
- Schirmer S. Ein Fall von Telangiektasia. Albrecht von Graefes Archiv für Ophthalmologie. 1860; 7: 119-121.
- Sturge WA. A case of partial epilepsy, apparently due to a lesion of one of the vasomotor centres of the brain. Transactions of the Clinical Society of London. 1879; 12: 162.
- Kalischer S. Ein Fall von Telangiektasie (Angiom) des Gesichts und der weichen Hirnhäute. Archiv für Psychiatrie und Nervenkrankheiten. 1901, 34: 171-180.
- Weber FP. Right-sided hemi-hypotrophy 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(10): 134-139.
- Dimitri V. Tumor cerebral congenito (angioma cavernosum). Rev Ass Med Argent 1923;36:63.
- Parkes Weber F. The Sturge-Kalischer Disease. In: Rare diseases and some debatable subjects. London: Staples, 1946: 9–11.
Eponymous term review
- Krabbe KH. Facial and meningeal angiomatosis associated with calcification of the brain cortex. A clinical and an anatomopathologic contribution. Arch Neurol Psychiatry. 1934; 32: 737–755.
- Miller SJH. Symposium: The Sturge-Weber Syndrome: Ophthalmic Aspects of the Sturge-Weber Syndrome. Proceedings of the Royal Society of Medicine. 1963;56(5):419-421
- Comi AM, Hunt P, Vawter MP, Pardo CA, Becker KG, Pevsner J. Increased fibronectin expression in sturge-weber syndrome fibroblasts and brain tissue. Pediatr Res. 2003 May;53(5):762-9.
- Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber syndrome: a review. Pediatr Neurol. 2004 May;30(5):303-10.
- Pearce JM. Sturge-Weber syndrome (encephalotrigeminal or leptomeningeal angiomatosis). J Neurol Neurosurg Psychiatry. 2006 Nov;77(11):1291-2.
- Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber syndrome: a review. Pediatr Neurol. 2004 May;30(5):303-10.
- Sudarsanam A, Ardern-Holmes SL. Sturge-Weber syndrome: from the past to the present. Eur J Paediatr Neurol. 2014 May;18(3):257-66.
- Comi AM. Sturge-Weber syndrome. Handb Clin Neurol. 2015;132:157-68.
eponymictionary
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