Sturge–Weber syndrome (encephalotrigeminal angiomatosis)

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183 Sturge–Weber syndrome (encephalotrigeminal angiomatosis)

Instruction

Look at this patient’s face.

Salient features

History

• Obtain history of seizures (focal or generalized)

• Hemiparesis, hemisensory disturbance

• Ipsilateral glaucoma

• Mental subnormality.

Examination

• A port-wine stain is present on the face in the distribution of the first and second division of the trigeminal nerve (Fig. 183.1)

• Hypertrophy of the involved area of the face.

Fig. 183.1 Sturge–Weber syndrome.

Proceed as follows:

• Look for haemangiomas of episclera and iris

• Tell the examiner that you would like to:

• examine the fundus for unilateral choroidal haemangiomata: the so-called haemangioma is in almost all cases on the side of the facial naevus flammeus and is so diffuse that the colour change it causes is commonly called a ‘tomato ketchup’ fundus (Fig. 183.2)

• do a skull radiograph or cranial CT (Fig. 183.3) for intracranial ‘tramline’ calcification, particularly in the parieto-occipital lobe (caused by mineral deposition in the cortex beneath the intracranial angioma)

• check BP: may be associated with phaeochromocytoma.

Fig. 183.2 Diffuse choroidal hemangioma. (A) The affected right fundus has saturated red colour and a large deep cup of optic disc. (B) The uninvolved left fundus, with more orange coloured choroid and a normal optic disc.

(With permission from Yanoff, Duker 2008.)

Fig. 183.3 CT scan showing unilateral calcification and underlying atrophy of a cerebral hemisphere.

(With permission from Kliegman et al. 2007.)

Diagnosis

This patient has a port-wine stain on the face in the distribution of the first two divisions of the trigeminal nerve (lesion), which is probably caused by Sturge–Weber syndrome (aetiology); these lesions may be cosmetically unacceptable (functional status).

Advanced-level questions

What is the inheritance in such patients?

This is the only syndrome of the phacomatoses that does not have a hereditary tendency. It occurs sporadically and has no sexual predilection.

What are the neurological manifestations in such patients?

Jacksonian epilepsy, contralateral hemianopia, hemisensory disturbance, hemiparesis and hemianopia, low IQ.

What other ocular manifestations do you know?

Choroidal angioma, glaucoma (in 30%), buphthalmos (large eye), optic atrophy.

What is the histology of port-wine stains?

They are composed of networks of ectatic vessels in the outer dermis, under a normal dermis.

Does the location of the port-wine stain predict Sturge–Weber syndrome?

Patients who do not have port-wine stain in the distribution of the first two branches of trigeminal nerve are unlikely to have neuro-opthalmological manifestations of the syndrome.

How would you treat such a patient?

• Treatment is aimed at the pharmacological control of seizures.

• The patient should be referred to the ophthalmologist for management of increased intraocular pressure or choroidal angioma.

• Photothermolysis to treat the port-wine stains. If this occurs in early childhood, the psychological burden on the family and child may be alleviated. The pulsed dye laser provides individual pulses of 0.35 ms at 585 nm. It is the treatment of choice for most port-wine stains, particularly in children. Wavelengths of 577–590 nm are optimal as they are minimally attenuated by epidermis and dermis, and strongly absorbed by blood. Pulse durations of 0.5–5.0 ms produce only transmural injury to the vessel wall, by heat conduction from hot red cells, and hence prevent non-specific dermal injury. One study reported that there was no efficacy in treating port-wine stains with flash-lamp-pumped dye laser in early childhood compared with at a later age (N Engl J Med 1998;338:1028–33).

William A Sturge (1850–1919), a London physician, described this condition in 1879. He was attached to the The Royal Free Hospital, London, and founded the Society of Prehistoric Archaeology in East Anglia.

Otto Kalischer, a German pathologist, described postmortem findings in a case as early as 1901.

Frederick Parkes Weber (1863–1962), a London physician, was the first to describe the radiological appearances in this condition. Two other syndromes to which Weber’s name is attached are Weber–Christian disease (relapsing, febrile, nodular, non-suppurative panniculitis) and Osler–Rendu–Weber syndrome (hereditary haemorrhagic telangiectasia).

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