User Tools

Site Tools


sturge-weber_syndrome

Sturge-Weber syndrome

Key concepts

● cardinal signs:

1) localized cortical cerebral atrophy and calcifications.

2) ipsilateral port-wine facial nevus (usually in distribution of V1)

● contralateral seizures usually present

● plain skull films classically show “tram-tracking” (double parallel lines).


Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development, sometimes referred to as encephalotrigeminal angiomatosis.

AKA encephalotrigeminal angiomatosis. Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder involving the brain, skin & eye, consisting of:

1. cardinal features:

a) localized cerebral cortical atrophy and calcifications(especially cortical layers 2 and 3,with a predilection for the occipital lobes):

● calcifications appear as curvilinear double parallel lines (“tram-tracking”) on plain X-rays

● cortical atrophy usually causes contralateral hemiparesis, hemiatrophy, and homonymous hemianopia (with occipital lobe involvement)

b) ipsilateral port-wine facial nevus (nevus flammeus) usually in the distribution of 1st division of trigeminal nerve (forehead and/or eyelid) (rarely bilateral): not always present, alternatively sometimes in V2 or V3 regions

2. other findings that may be present:

a) ipsilateral exophthalmos and/or glaucoma, coloboma of the iris

b) oculomeningeal capillary hemangioma

c) cerebral venous malformation (leptomeningeal angiomatosis)

d) convulsive seizures:contralateral to the facial nevus and cortical atrophy. Present in most patients starting in infancy

e) retinal angiomas

f) endocrinopathies: growth hormone deficiency is more common in SWS patients. For suspected or confirmed SWS, screen for this in children ≥ age 2 years by measuring serum IGF-1.

Classification

Sturge Weber Syndrome can be classified into three different types. Type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions. Normally, only one side of the brain is affected. This type is the most common. Type 2 involvement includes a facial angioma (port wine stain) with a possibility of glaucoma developing. There is not any evidence of brain involvement. Symptoms can show at anytime beyond the initial diagnosis of the facial angioma. The symptoms can include glaucoma, cerebral blood flow abnormalities and headaches. More research is needed on this type of Sturge Weber Syndrome. Type 3 has leptomeningeal angioma involvement exclusively. The facial angioma is absent and glaucoma rarely occurs. This type is only diagnosed via brain scan.

Etiology

Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary etiology). It is caused by a somatic activating mutation occurring in the GNAQ gene.

Genetics

Most cases are sporadic. Other cases are suggestive of recessive inheritance, with chromosome 3 being implicated.

Clinical features

Often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors).


cardinal features:

a) localized cerebral cortical atrophy and calcifications (especially cortical layers 2 and 3, with a predilection for the occipital lobes):

● calcifications appear as curvilinear double parallel lines (“tram-tracking”) on plain x-rays

● cortical atrophy usually causes contralateral hemiparesis, hemiatrophy, and homonymous hemianopia (with occipital lobe involvement)

b) ipsilateral port-wine facial nevus (nevus flammeus) usually in distribution of 1st division of trigeminal nerve (rarely bilateral) other findings that may be present:

a) ipsilateral exophthalmos and/or glaucoma, coloboma of the iris

b) oculomeningeal capillary hemangioma

c) convulsive seizures: contralateral to the facial nevus and cortical atrophy. Present in most patients starting in infancy

d) retinal angiomas

Diagnosis

Sometimes associated with neurocutaneous melanosis.

Radiological findings will show tram track calcifications on CT, bilaterally.

Higher estimated myelin was observed on the ipsilateral side in some patients aged ≤ 2 years and lower myelin on the ipsilateral side in all older patients. Synthetic qMRI might be useful for showing myelin-related abnormalities in SWS 1).

Treatment

Treatment is supportive. Anticonvulsants are used for seizures. Lobectomy or hemispherectomy may be needed for refractory seizures. XRT: complications are common and benefits are lacking. Laser surgery for the cutaneous nevus is disappointing; better results obtain from masking the nevus with a skin colored tattoo.

Case series

Fourteen children with unilateral SWS were categorized according to age, i.e., ≤ 2 years (group A, n = 5, mean age 1.1 years, 3 males) and > 2 years (group B, n = 9, mean age 3.9 years, 4 males). All children underwent two-dimensional synthetic qMRI. The myelin volume in the cerebral hemisphere and white matter (WM) myelin volume fraction (MVF), proton density (PD), R1 and R2 relaxation rates ipsilateral to the leptomeningeal enhancement, and/or a port-wine birthmark were compared with the corresponding values in the contralateral hemisphere.

In group A, 3 patients had a higher myelin volume in the ipsilateral hemisphere and a higher MVF, R1, and R2 and lower PD in the ipsilateral WM than on the contralateral side; the findings were the opposite in the remaining two patients. All patients in group B had a significantly lower myelin volume in the ipsilateral hemisphere (P < 0.05) and a lower MVF and R1 and higher PD in the ipsilateral WM than on the contralateral side (P < 0.0125).

Higher estimated myelin was observed on the ipsilateral side in some patients aged ≤ 2 years and lower myelin on the ipsilateral side in all older patients. Synthetic qMRI might be useful for showing myelin-related abnormalities in SWS 2).

Case reports

A 2-year-old boy with Sturge-Weber syndrome who had in addition an intracranial lipoma, a temporal arachnoid cyst and a porencephalic cyst. This combination of intracranial lesions with Sturge-Weber syndrome has not been previously reported 3).

References

1) , 2)
Andica C, Hagiwara A, Hori M, Haruyama T, Fujita S, Maekawa T, Kamagata K, Yoshida MT, Suzuki M, Sugano H, Arai H, Aoki S. Aberrant myelination in patients with Sturge-Weber syndrome analyzed using synthetic quantitative magnetic resonance imaging. Neuroradiology. 2019 Jul 6. doi: 10.1007/s00234-019-02250-9. [Epub ahead of print] PubMed PMID: 31280361.
3)
Ergün R, Okten AI, Gezercan Y, Gezici AR. Sturge-Weber syndrome accompanied with multiple congenital intracranial lesions. Acta Neurochir (Wien). 2007 Aug;149(8):829-30; discussion 830. Epub 2007 Aug 1. PubMed PMID: 17660941.
sturge-weber_syndrome.txt · Last modified: 2019/12/05 01:00 by administrador