The coincidence of neurocutaneous melanosis and encephalofacial angiomatosis

The case of a 21-year-old woman who was affected by both encephalofacial angiomatosis (Sturge-Weber syndrome) and neurocutaneous melanosis is reported. Her signs and symptoms consisted of an interesting overlap of the characteristics of these two neurocutaneous syndromes with glaucoma, hydrocephalus, epilepsy, mental retardation and vascular and melanotic skin lesions observed throughout her course. The clinical diagnosis presented considerable difficulties. The simultaneous occurrence of these two disorders has not been previously reported and this is the first reported case where the cutaneous lesions and their histology, the neuropathology and the clinical features of both disorders is described in one individual.     

Megalencephaly due to impaired cerebral venous return in a Sturge-Weber variant syndrome

An infant with a Sturge-Weber variant syndrome developed progressive megalencephaly and eventual hydrocephalus, which required shunting. Cerebral angiography revealed absence of the deep cerebral venous system and the development of abnormal drainage channels via the periorbital veins. It is postulated that the abnormal enlargement of the brain was due to the impaired venous return. Resistance of the brain to continued expansion may have caused an increase in hydrostatic pressure and the development of hydrocephalus.     

Sturge-Weber syndrome variant with atypical intracranial findings: case report

Sturge-Weber syndrome is characterized by a facial port-wine nevus, leptomeningeal angiomatosis, and glaucoma; it is commonly complicated by epilepsy and hemiparesis. We present a patient with a head and neck port-wine nevus, glaucoma, abnormalities of the intracranial deep veins, and untreated communicating hydrocephalus. The patient lacks any radiologic or clinical evidence of cerebral leptomeningeal angiomatosis. Considering that intracranial venous anomalies also are likely compatible with the embryologic explanation of Sturge-Weber syndrome, this child can serve as an unusual example of Sturge-Weber syndrome type II.     

Left-sided facial nevus with contralateral leptomeningeal angiomatosis in a child with Sturge-Weber syndrome: case report

Sturge-Weber syndrome is characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma. Variants of this classical presentation have been described in the literature, some of which have prognostic significance. We report a magnetic resonance imaging (MRI)-confirmed variant of a leptomeningeal angioma contralateral to the facial nevus. We describe one patient with Sturge-Weber syndrome who presented with a left-sided facial nevus, left eye glaucoma, episodes of left-sided weakness, and right-sided leptomeningeal angiomatosis by gadolinium-enhanced brain MRI. The literature regarding variants of Sturge-Weber syndrome and their prognosis is reviewed. The prognosis for this variant is likely similar to Sturge-Weber syndrome with an ipsilateral leptomeningeal angioma.     

Central hypothyroidism and Sturge-Weber syndrome

Sturge-Weber syndrome is a rare disorder manifesting with a facial port-wine birthmark and a vascular malformation of the brain. Infants and children present with seizures and stroke-like episodes with focal neurologic deficits. Our previous investigations revealed that growth-hormone deficiency occurs with an increased prevalence in Sturge-Weber syndrome, presumably secondary to involvement of the hypothalamic-pituitary axis. We have continued to screen for hormonal abnormalities in patients with Sturge-Weber syndrome, specifically those from our multidisciplinary center for patients with this condition. We describe 2 children out of 83 (2.4%) with Sturge-Weber syndrome and brain involvement who were evaluated at our center and diagnosed with central hypothyroidism, based on clinical signs and laboratory findings. This prevalence is much higher than that of central hypothyroidism in the general population. Although it is well-known that anticonvulsants can lead to abnormalities in thyroid function tests, including central hypothyroidism, patients with Sturge-Weber syndrome carry the additional risk of developing hypothalamic-pituitary dysfunction, secondary to their central nervous system dysfunction. Therefore, it is important that patients with Sturge-Weber syndrome undergo routine thyroid-function testing, especially in the face of any clinical manifestations.     

Sturge-Weber syndrome: deep venous occlusion and the radiologic spectrum

Sturge-Weber syndrome is a neurocutaneous syndrome with a facial port-wine nevus and neurologic features, typically including seizures and hemiparesis. Glaucoma may also occur. MRI features include leptomeningeal angiomatosis, cortical and pial calcifications, and angiomatous change of the choroid plexus. We reviewed a subset of patients with Sturge-Weber syndrome with the rare finding of deep venous occlusion, and present such a case, unusual by comparison to previously reported cases of Sturge-Weber syndrome with deep venous occlusion. Six previously reported cases were reviewed. All cases presented with seizures; five of six had evidence of leptomeningeal angiomatosis; half had cerebral hemiatrophy. This report presents a unique case lacking clinical seizures, but with a port-wine stain and congenital glaucoma. This patient lacked the radiologic findings of leptomeningeal angiomatosis and hemicerebral atrophy, but demonstrated deep venous occlusion with frontal venous collaterals. There is a wide spectrum of findings in Sturge-Weber syndrome. The lack of seizures and angiomatosis in this case are likely "true-true" and related. The case illustrates the unusual finding of deep venous occlusion in Sturge-Weber syndrome occurring without leptomeningeal angiomatosis. Additionally, it demonstrates that although the initial evaluation is normal, patients may later manifest clinical characteristics of Sturge-Weber syndrome.     

Bilateral cortical calcifications with benign clinical course: an unusual case of Sturge-Weber syndrome?

A case of a 13-year-old girl with bilateral cortical calcifications of the Sturge-Weber type at CT examination, without cutaneous lesions and ocular abnormalities is described. She had seizures appearing within the first year of life which never recurred since the age of two years. At the age of ten years she began to suffer from occasional migraine attacks. Her neurological examination and psychological testing did not show any significant abnormality. This case can be regarded as an unusual atypical form of Sturge-Weber syndrome, unless the existence of a new disorder is assumed.     

Leptomeningeal angiomatosis with infantile spasms

We describe a 7-month-old female with leptomeningeal angiomatosis who developed infantile spasms. She did not manifest facial nevus or ocular choroidal angioma. Leptomeningeal angiomatosis is characterized by venous angiomas of leptomeninges and usually accompanied by facial nevus, a condition known as Sturge-Weber syndrome. In Sturge-Weber syndrome, leptomeningeal angiomas can cause infantile spasms but much less frequently than in other neurocutaneous syndromes, such as tuberous sclerosis. This patient is the first reported case of leptomeningeal angiomatosis without facial nevus who developed infantile spasms. Leptomeningeal angiomas should be taken into consideration as a cause of infantile spasms, even in the absence of facial nevus. We suggest that this case is clinically within the spectrum of Sturge-Weber syndrome, and that the embryologic origin of this case is similar to that of Sturge-Weber syndrome.     

Intracranial hypertension in Sturge-Weber/Klippel-Trenaunay-Weber overlap syndrome due to impairment of cerebral venous outflow.

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare mesodermal phakomatosis characterized by (1) cutaneous haemangiomata (usually unilateral and involving an extremity) (2) venous varicosities and (3) osseous and soft tissue hypertrophy, also of the affected limb. Sturge-Weber Syndrome (SWS), also a mesodermal phakamatosis, is characterized by meningofacial angiomatosis with cerebral calcification. Overlap between KTWS and SWS is recognized. We describe the case of a young woman with features of both KTWS and SWS who presented with symptoms of acute intracranial hypertension, including headache, vomiting and marked visual impairment. Cerebral angiography revealed paucity of the superficial cortical veins overlying one of the cerebral hemispheres and centripetal venous drainage via small deep venous channels. Based upon this pattern of cerebral venous outflow, we postulate a mechanism to explain the acute episode of intracranial hypertension.     

Cortical vascular abnormalities in the syndrome of celiac disease,epilepsy, bilateral occipital calcifications,and folate deficiency

The pathological changes in the syndrome of celiac disease, folate deficiency, bilateral occipital calcifications, and intractable epilepsy have not been previously described. A child with this disorder had a field defect correlating with active lateralized epileptic discharges and asymmetrical lesions. After resection of the right occipital lobe she was seizure free for 4 years. A cortical vascular abnormality with patchy pial angiomatosis, fibrosed veins, and large jagged microcalcifications was found. These pathological abnormalities were similar though not identical to those found in the Sturge-Weber syndrome.     

Linear nevus sebaceous syndrome associated with porencephaly and nonfunctioning major cerebral venous sinuses.

An infant with the linear nevus sebaceous syndrome also had new findings of porencephaly and nonfunctioning major cerebral venous sinuses. This infant is the first described with the syndrome to undergo angiographic study. Similar nonfunctioning major cerebral venous sinuses are seen in the Sturge-Weber syndrome. A leptomeningeal angioma recently was reported in a newborn with the linear nevus sebaceous syndrome. The central nervous system disturbances in this syndrome might be secondary to developmental vascular anomalies. Therefore, the linear nevus sebaceous syndrome exhibits important similarities to the Sturge-Weber variety of neurocutaneous syndrome.     

Neuroradiologic findings in a young patient with characteristics of Sturge-Weber syndrome and Klippel-Trenaunay syndrome

The patient presented here has extensive hemangiomata plana, especially on the right forehead, right upper eyelid, and right leg, as well as right leg hypertrophy and macrocephaly. Cerebral magnetic resonance imaging (MRI) showed abnormalities in only one occipital lobe consisting of focal cortical atrophy, leptomeningeal enhancement, and ipsilateral choroid plexus enlargement. Mental and motor development is normal, and he has no seizures. The parents are consanguineous. Leg hypertrophy associated with ipsilateral cutaneous vascular malformations is suggestive of Klippel-Trenaunay syndrome. The patient's central nervous system abnormalities on MRI and the hemangiomata plana on the ipsilateral upper eyelid and forehead point to Sturge-Weber syndrome. We conclude that the patient has an overlap syndrome between Klippel-Trenaunay syndrome and Sturge-Weber syndrome.     

The relationship of cloverleaf skull syndrome to hydrocephalus

In 1960, Holtermüller and Wiedemann described chondrodystrophic hydrocephalus as Kleeblattschädel syndrome. In the present paper, we review 23 cases of this syndrome associated with hydrocephalus, including 2 cases of our own. Of these 23 cases, 8 involved communicating hydrocephalus and 15 non-communicating hydrocephalus. It has been speculated that the associated hydrocephalus results from basilar impression, compression of infratentorial structures, aqueductal stenosis in non-communicating hydrocephalus, and impairment of venous drainage and cerebral spinal fluid flow at the level of the constrictive cranial ring in communicating hydrocephalus. Our present cases also showed this cranial ring, as demonstrated by skull X-rays and computed tomography scans. Since cloverleaf skull syndrome often has other general anomalies, we consider the hydrocephalus in this syndrome to have causes associated wtih the osteocartilaginous system.     

Myoclonic astatic seizures in a child with Sturge-Weber syndrome

INTRODUCTION: Sturge-Weber syndrome is a neurocutaneous disease associating facial and pial angioma. Focal epilepsy is a common sign. In a few cases, generalized seizures have been reported. CASE REPORT: We report on a four-year-old girl with Sturge-Weber syndrome. The first focal seizures occurred at three years of age. She developed refractory status epilepticus. At discharge from the PICU, she was on a ketogenic diet and received three antiepileptic drugs. No seizures were observed for four months. The patient then developed several types of seizures: myoclonic seizures, focal clonic seizures, and sudden falls. We were unable to determine the etiology of the falls. Typical myoclonic astatic seizures were identified on video-electroencephalographic recordings. CONCLUSION: Seizures in Sturge-Weber syndrome are usually focal. Four patients with Sturge-Weber syndrome and myoclonoastatic seizures are reported in the literature. We discuss the pathophysiological mechanisms leading from a focal lesion to generalized myoclonoastatic seizures.     

Sturge--Weber syndrome: report of an unusual cutaneous distribution

This is an 11 month old girl who has been referred to our institute for a seizure disorder. Her physical examination showed angiomas on the left side of her face, and more extensive and prominent ones on her palms and soles. Her right face and arm were smaller than the left, associated with hypotonia and moderate weakness in the right forearm. Computerized tomography of head showed intracranial calcification in the left fronto-parietal region, and brain MRI, with gadolinium, revealed an extensive leptomeningeal angioma over the entire left hemisphere. This case was diagnosed as Sturge-Weber syndrome with unusual cutaneous manifestations.     

Pathophysiology of Sturge-Weber syndrome

Sturge-Weber syndrome is a neurocutaneous disorder classically presenting with a facial port-wine stain, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal angioma. Children with Sturge-Weber syndrome often develop progressive neurologic problems. Data on the pathophysiology of Sturge-Weber syndrome are briefly reviewed. The embryologic, genetic, and pathologic considerations are discussed, as are theories regarding the mechanisms of the degenerative brain changes. Sturge-Weber syndrome likely results from an early embryologic malformation of vascular development affecting the development of the nearby skin, eye, and brain structures. Studies suggest that complex molecular interactions contribute to the abnormal development and function of blood vessels in Sturge-Weber syndrome. Neurologic deterioration in Sturge-Weber syndrome is likely secondary to impaired blood flow to the brain and is worsened by the presence of seizures. Insights from related areas are discussed, and future research studies are suggested.     

Sturge-Weber syndrome: altered blood vessel fibronectin expression and morphology

Sturge-Weber syndrome presents with vascular malformations of the brain, skin, and eye. Fibronectin has potent effects on angiogenesis, vessel remodeling, and vessel innervation density. To determine fibronectin expression in the blood vessels of Sturge-Weber syndrome brain and skin tissue and to quantify the density and circumference of Sturge-Weber syndrome blood vessels by type compared with controls, we performed in situ hybridization for fibronectin messenger ribonucleic acid (RNA) expression on six Sturge-Weber syndrome cortical brain samples, six epilepsy brain samples, skin from two port-wine stain skin lesions, and two normal skin samples from two subjects with Sturge-Weber syndrome. Fibronectin messenger RNA was expressed in blood vessels and endothelial cells in the parenchyma of both Sturge-Weber syndrome and control brain tissues and in skin samples. Fibronectin expression was significantly reduced by 23% in the Sturge-Weber syndrome meningeal vessels compared with the epilepsy controls (P < .01). Fibronectin expression was significantly increased by 19% in the Sturge-Weber syndrome parenchymal vessels compared with the epilepsy controls (P < .05). No difference was found in the expression of fibronectin in port-wine stain skin blood vessels. The density of leptomeningeal blood vessels in the Sturge-Weber syndrome brain tissue samples was 45% greater than in the epilepsy samples (P < .05). Blood vessel circumference was significantly decreased in the Sturge-Weber syndrome meningeal vessels compared with the controls (27%; P < .05). When blood vessels from different brain regions were compared, fibronectin expression was decreased in Sturge-Weber syndrome meningeal vessels and was increased in the parenchymal vessels. Altered blood vessel fibronectin expression in Sturge-Weber syndrome could contribute to abnormal vascular structure and function in this disorder.     

Psychological functioning in children and adolescents with Sturge-Weber syndrome

Previous studies of individuals with Sturge-Weber syndrome have focused on the medical aspects of this syndrome, but little has been known about the affective and behavioral correlates. We collected psychological and medical data from parents and teachers for 79 children and adolescents with Sturge-Weber syndrome and a group of their siblings. We also obtained the results of intellectual assessment for a subset of the Sturge-Weber syndrome group. The young people with Sturge-Weber syndrome exhibited more problems than the group of siblings across a number of behavioral domains: intellectual/academic, social skills, mood, and compliance. Those children most at risk for psychological problems were those with lower levels of intellectual functioning, those with seizure disorders, and those with more frequent seizures. Larger port-wine stains were also associated with an increase in mood and social problems but only for older children. Increased age was not associated with lower levels of intellectual or academic functioning, but mood and social problems were more common in older children.     

Visual functional magnetic resonance imaging in patients with Sturge-Weber syndrome

The purpose of this study is to report different patterns of visual cortex activation in patients with Sturge-Weber syndrome as compared with healthy control subjects. Utilizing a visual paradigm of flashing lights, three children with Sturge-Weber syndrome were studied with functional magnetic resonance imaging. The results are compared with those documented in eight normal sedated children, and six young adult awake volunteers, using the same paradigms. All adult volunteers manifested bilateral activation in primary visual cortex (Brodmann's 17 and 18 areas). Two of them also had activation in secondary visual cortex (Brodmann's 19 area). In the eight sedated normal children, seven manifested activation in primary visual areas. The last exhibited no activation. The patients with Sturge-Weber syndrome demonstrated in the affected occipital lobe increased activation in one patient (11 months old), no activation in the second (12 years of age), and abnormal distribution of the activation in the third (11 months old). This report demonstrates that the vascular malformation of Sturge-Weber syndrome does not necessarily prevent cortical activation in the expected occipital cortex and may be associated with different patterns of abnormal activation. Assessing cortical function with functional magnetic resonance imaging in patients with Sturge-Weber syndrome may be helpful in decisions of surgical management and counseling.     

Delusional paralysis: an unusual variant of Cotard's syndrome

Cotard's syndrome, a highly impressive psychopathological condition, occurs mainly in depressive disorders and entails nihilistic delusions concerning the body and the non-existing of the self as outstanding features, accompanied by hypochondriacal delusions and ideas of guilt as well as immortality. We here report on a female patient presenting with an unusual variant of the syndrome: most prominently, she had the delusion to be paralysed, although displaying psychomotor agitation, and that neuroleptic agents had devoured her nerve ganglia. Upon ECT, symptoms rapidly improved. Psychopathological implications and the nosological position of Cotard's syndrome are discussed.