Ординатура / Офтальмология / Английские материалы / The Glaucomas Volume 1 Pediatric Glaucomas_Sampaolesi, Zarate_2009

Encephalotrigeminal Neuroangiomatosis or Sturge-Weber-Krabbe Syndrome

This disease is also included in the angiomatoses (retinocerebellar hemangioblastomatosis or Von Hip- pel-Lindau syndrome, retino-optical-mesencephalic aneurysmatic syndrome or cirsoid aneurysm, Coats retinosis).

Schirmer [14] was the first to report the association of a facial skin angioma with congenital glaucoma.

Sturge [15] associated the signs derived from a nervoussystemlesion(meningealangioma),suchasconvulsions, paresis, etc., with the picture described above.

Weber [16] and Krabbe [17] described the typical x- ray anomalies: parallel lines calcified by brain lesions.

Bergstrand et al. [18] coined the name Sturge-We- ber disease for this condition.

Van der Hoeve [19] included it in the group of phakomatoses. In most cases, the disease is unilateral.

The manifestations are facial angioma, choroidal angioma, meningeal angioma, intracranial calcifications, and glaucoma. The lesion is identical in the skin, meninges, and uvea.

Facial Angioma

Facial angioma is a nevus flammeus, which may be unilateral or bilateral and may be accompanied by facial hypertrophy. It is a flat angioma that may present in different degrees; sometimes it is manifested by small telangiectasias, while in other cases, it may have massive involvement and it has the appearance of a winecolor spot. When it is unilateral, it does not pass the middle line and the area involved is generally the first two trigeminal branches (Fig. 22.5).

Palpebral Angioma

Palpebral angioma is limited to the eyelid skin, but it also involves vascular anomalies in the conjunctiva and episclera.

like deposits on its surface. It coexists with facial angioma and conjunctival telangiectasias. In this regard, it should be stressed that its differential diagnosis with melanomas may not be easy and many eyes have been enucleated for melanomas that turned out to have choroidal angiomas. The same occurs with retinoblastomas [19].

Stokes [20] reported that the neck compression test can be of help for differential diagnosis with malignant melanoma. Upon compression of the neck veins, in hemangioma cases, IOP will rise markedly, whereas this does not occur with melanomas.

Intrascleral and Episcleral Angioma

When cases of Sturge-Weber are operated on, after dissecting the conjunctiva, in almost all cases the surgeon finds an episcleral angioma that has been described very well by Phelps as not limited only to the episclera but extending over the sclera up to more than half its thickness (Fig. 22.6).

Choroidal Angioma

Choroidal angioma is typically too deep to be identified during funduscopy. In most cases, the lesion is located between the optic disc and the macula, generally juxtapapillary. It has the appearance of a grayish-white spot, generally long or circular, with quite neat edges. It is never pigmented, but sometimes has shining spot-

Fig. 22.5 Encephalotrigeminal neuroangiomatosis. Facial angioma on the left eye involving the upper eyelid, eyebrow, and forehead, with the lower eyelid free of the disease. Crying produces great congestion

Meningeal Angioma

This is capillary angioma on the encephalic surface, involving the dura mater but extending deep inside in the shape of a wedge. It generally develops on the same side as the skin angioma and it preferentially locates on the occipital area, always involving brain substance.

Intracranial Calcifications

These calcifications are usually found in children. In general, they increase with age and manifest mainly in the occipital area. In adults, they are present in 80% of cases.

To these central disorders are attributed the psychological manifestations of the disease, which may even lead to dementia and epileptic-like seizures, as well at to neurological disorders such as homonymous hemianopsia, hemiplegia, etc. In these cases, carotid artery

angiography, electroencephalography, and cisternography are very useful.

Glaucoma

In nearly 70% of cases, glaucoma is seen in a similar form to that of congenital glaucoma, and in the remaining 30%, it appears as primary open-angle glaucoma, even in the presence of vascular disorders, sometimes in the iris and at others in the chamber angle. Therefore, knowledge of the chamber angle is vital for the indication of surgical therapy when necessary, since, if its morphology is that of congenital glaucoma, goniotomy or trabeculotomy will be mandatory, and if not, any type of procedure can be performed.

The pathogenesis of this type of glaucoma is controversial, since if the chamber angle has the characteristics of congenital glaucoma, the cause lies with the tissues at the level of the trabecular meshwork. Otherwise, episcleral vascular disorders would mean including this glaucoma among those with extraocular causes. Its mechanism needs further elucidation. Chandler and Grant [11] reported that when blood reflows in the Schlemm canal upon neck compression, this is seen usually bifurcated or displaced from its usual position.

General Lesions

Angiomas can also be present on the neck, trunk, limbs, and digestive mucosa. Sometimes, the facial hypertrophy described above is also associated with body hemihypertrophy. From the point of view of pathological anatomy, it is a capillary hemangioma or a hemangioblastoma, which is a true vascular neoplasm with proliferation of endothelial cells.

Fig. 22.6 Trabeculectomy specimen (H-E, ×40). Presence of intrascleral vascular ectasias up to the external part of the scleral flap of the specimen. This is remarkable since, in this case, there were not only episcleral ectasias showing on the scleral cover, but also, as can be seen in the figure, on the inner half. These morphological changes are determinants of hypertension

Clinical Forms

Different clinical forms have been described, which can be divided according to symptoms: trisymptomatic, bisymptomatic, and monosymptomatic.

There are two trisymptomatic clinical forms: Sturge- Weber-Krabbe syndrome, which presents with facial angioma, nervous disorders, and glaucoma, and Janken syndrome, which is characterized by the presence of facial angioma, nervous disorders, and choroidal angioma with no glaucoma.

The bisymptomatic forms include Schirmer syndrome, which is a facial angioma with congenital glau-

coma, and Lawford syndrome, a facial angioma with late congenital glaucoma.

Monosymptomatic forms may present either with isolated congenital glaucoma or with isolated choroidal angioma, with no glaucoma.

Prognosis of the disease may be serious due to the nervous lesions, which may lead to death or to the visual damage produced by glaucoma.

It has a dominant hereditary pattern.

We will now describe a clinical history which will be useful.

Clinical History No. 1

This 22-month-old male weighed 4.6 kg at birth. He had a facial angioma involving the left side of the face, particularly the upper eyelid, eyebrow, and forehead, and all the skin surrounding the inner and outer angles of the eye, but not the lower eyelid (Fig. 22.5). This angiomatous lesion swelled significantly when crying. The left eye had exotropia and the IOP was 20 mmHg in the right eye and 35 mmHg in the left eye.

He had seizures as early as his 2nd day of life, which were of clonic-tonic type on the right side in the arm and leg, three to four times a day, though he had some seizure-free days. They disappeared at 4 months of age.

Funduscopy of the left eye revealed a tortuous superior temporal vein, which failed to end at any vascular formation. The optic disc of the left eye was whitish-gray. This eye was exotropic 12°. The IOP of the left eye decreased to 20 mmHg with the use of miotic agents. The chamber angle was normal in the right eye and it had pathological mesodermal remnants in the left eye, which covered the ciliary body band up to where the Schlemm canal was located; there were small vessels at 10 o’ clock. The parents refused to have the child operated on.

In other children, it is not unusual to find the angioma on one side while the glaucoma is bilateral.

The papers authored by Tosti [21] and Manzitti [22] are highly recommended for this entity.

Clinical History No. 2

This 29-year-old woman had unilateral Sturge-Weber- Krabbe syndrome in the right eye (Figs. 22.7, 22.8, 22.9). At the age of 23, she was found to have IOP at 36 mmHg. Laser trabeculoplasty was performed and then she was treated with prostaglandins. She arrived for the appointment with hypertension in the right eye.

This case shows a poor result in terms of regulating pressure. Nonpenetrating deep sclerectomy (NPDS) is not a good indication for Sturge-Weber syndrome.

Klippel-Trenaunay Syndrome

Clinical History No. 3

This patient, a 12-year-old girl who was followed up from 1993 to 1998, had been operated twice in each eye (trabeculectomies) by other colleagues when she was small. Pressure was regulated perfectly in the left eye, but not in the right eye. The diagnosis was Klip- pel-Trenaunay syndrome. The patient presented with a bilateral facial angioma, which, as can be seen in Fig. 22.10, affects the right side of the face, but passed the mid-line of the nose and affected the chin and the lower part of the left cheek. A hemangiomatosis in the leg on the same side accompanied this lesion with a hypertrophy and edema that can affect the genitals. In this case, the hypertrophy and edema were reduced in size and the patient, 16 years old, presented 35-mmHg glaucoma (Fig. 22.10a–c) 360°. There was angiomatosis of episcleral and subconjunctival vessels (Fig. 22.10d).

Fig. 22.10 a Bilateral angioma of the face, b bilateral angioma of the legs, c bilateral angioma of the abdomen. d Angiomatosis of episcleral and subconjunctival vessels