Sturge-Weber syndrome, classified among the neurocutaneous syndromes, is often recognized by its cutaneous manifestations but becomes clinically important because of its cerebral vascular pathology. An abnormal development of the embryonic vasculature is probably responsible for the vascular malformation in this disease. Angiomatous formation occurs in the pial and dural veins and capillaries overlying the cerebral cortex, but spares the cerebral arteries. This hypervascularity is evident both grossly and microscopically. The vascular malformation most commonly affects the parieto-occipital region but may also affect the frontal or temporal lobes. Unihemispheric involvement is most frequent, but bihemispheric lesions are occasionally observed. Much of the interest in this syndrome stems from the radiographic findings of intracranial calcifications. These calcifications are located in the second and third layers of the cortex but also in the vessel wall, in the perivascular space, in the white matter, and, rarely, within the neuron. Many authors have proposed that the deposition of calcium is a secondary phenomenon related to cerebral anoxic injuries. However, others suggest that altered vascular permeability or a primary vascular factor is responsible. In addition to the calcifications, extensive gliosis, atrophy, and loss of neurons may be found in the involved regions. The disease may be progressive and frequently clinically correlated with worsening development and poor seizure control
1,2.
Parallel to this information, the subject presented in this paper had isolated left hemisphere involvement, an atrophic corpus callosum, cortical calcification in the left hemisphere, pial and leptomeningeal angiomatosis and left diffuse cortical atrophy.
In addition, although they are less common, variants have been described in which the leptomeningeal angiomatosis is present in the absence of facial nevus 1. In our subject, spreaded hemangioma was present in the left side of the face and thorax, left hand, leg and foot.
Focal or generalized seizures occur in 75 to 89% of cases, and are more likely and begin earlier in patients with bilateral involvement. The onset of seizure activity usually begins in infancy, though sometimes not until childhood. An earlier onset of seizures appears to be associated with a worse prognosis for mental development 1,2. Generalized seizures in our case initiated in the sixth month but the subject did not have mental retardation. Mental retardation can be severe, but it is variable feature of this syndrome. Mental retardation is seen in more than half of patients with unilateral involvement1.
The treatment goals in this syndrome are to minimize or eliminate seizures and to maximize intellectual potential. Therefore, patients with medically intractable seizures and children at risk of mental deterioration should be selected for early surgical intervention. Surgical options for this disease include anatomical and functional hemispherectomy, localized cortical resection, and corpus callosotomy. Surgical decisions concerning patients with an onset of seizures in late infancy or childhood or with forme fruste disease are more difficult; some of these patients may benefit from surgery. For example, anatomical or functional hemispherectomy offers the best results for children with hemiplegia and epilepsy that are refractory to medication 1,2,10,11. Left cortical hemispherectomy was applied to our subject, who had hemiparesia and intractable epilepsy.
The best results in the management of Sturge-Weber syndrome have been obtained with hemispherectomy procedures. Treatment of children with later onset and less severe courses should be directed at treating the seizures with local cortical resection, if possible, and hemispherectomy should be reserved for patients with extensive disease and hemiplegia 1.
In these types of patients, whether or not they undergo surgery, neurological loss and problems such as resistant epilepsy influence the quality of life to a wide extent. Therefore, the aim of treatment should be to improve the quality of life and to reduce mortality and morbidity. One of the ways of improving quality of life in these patients is managing or decreasing the effects of neurological deficits with the appropriate rehabilitation program. The rehabilitation program increases the life quality, prevents complications (contracture, etc.), decreases the present inefficiency in variable activities in daily living, increases patient’s independence, and obtains the best psychosocial support for the patient and her relatives. The functional status and quality of life of the three-year-old subject whose seizures disappeared after hemispherectomy improved after the rehabilitation program.
We think that brain plasticity, neural shooting, functional reorganisation and replacement may have played a role in the improvement of our subject. Recently developed functional neuroimaging tools now make it possible to study noninvasively several aspects of human brain functional reorganization in response to injury. Clinical models that are suitable for the study of developmental brain plasticity include patients who have undergone cortical resections for the improvement of intractable epilepsy, patients who have sustained unilateral cerebrovascular insults at various periods of development, and patients with chronic progressive unilateral brain injury such as in Sturge-Weber syndrome 12.
Parallel to our study, Rebolledo et al. presented a case with epilepsy partialis continua follow up for seven years. They obtained good results from their study, and they explained their results in terms of brain plasticity and neuronal restoration in the left cerebral hemisphere after removal of the abnormal cerebral epilepsy focus. According to Rebolledo et al., this procedure may permit the restoration of the inadequate neuronal environment and normalization of neural physiological stability. The postulated mechanisms of reorganization of function are unmasking, nonsynaptic diffusion neurotransmission and receptor plasticity, trophic factors, synapsins and neurotransmitters. The neuropsychological mechanism to preserve the functions would involve a cortical reorganization with axonal and dendritic development beside sprouting and synaptogenesis 13.
In addition, Bach-y-Rita revealed human models of recovery of function which include hemispherectomy patients who have regained bilateral function, facial paralysis patients who recover function (with appropriate rehabilitation) after VII-XII cranial nerve anastomosis, and patients with muscle transpositions to re-establish lost motor functions. The role of early and late rehabilitation, with attention to psychosocial and environmental factors, appears to be critical for recovery 14.
In conclusion, the importance of early rehabilitation in addition to medical and surgical procedures in patients with Sturge-Weber syndrome and intractable epilepsy in reducing morbidity and increasing quality of life appears evident.
ACKNOWLEDGMENTS
We thank Mr. Nejat Akalan MD and his team for performing the surgery.
)
)
)
)