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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report an unusual case of encephalotrigeminal angiomatosis in which the facial and oral angioma was bilateral, and several teeth were congenitally absent. The developmental nature of the anomaly is reviewed. Encephalotrigeminal angiomatosis is commonly referred to as the Sturge-Weber syndrome, after Sturge and Weber who first described this affliction in 1879. The main clinical features of this syndrome are 1. venous angiomatosis of the leptomeninges of the cerebral-cortex, usually unilaterally 2. ipsilateral facial angiomatosis that often follows in outline the distribution of the trigeminal nerve (Fig 1) 3. ipsilateral gyriform calcification of the cerebral cortex 4. epileptic convulsions (contralateral focus) or other seizures 5. ocular defects (choroidal angioma, glaucoma hemianopia) 6. mental retardation 7. contralateral hemiplegia 8. obesity 9. oral mucosal and gingival involvement. Other less typical features are 1. association with hypomelanosis of 1 to 10 2. leptomeningeal angioma contralateral to the facial nevus 3. leptomeningeal angioma without facial vascular naevus 4. association with gastro intestinal hemorrhage 5. paranasal sinus enlargement. This syndrome that affects males and females equally, is a rare congenital disorder, apparently hamartomatous in nature, from persistence of a primitive embryonal vascular plexus. During the sixth week of intra-uterine life this plexus develops around the cephalic portion of the neural tube and under the ectoderm in the region destined to become facial skin. In the Sturge-Weber syndrome, the vascular plexus fails to regress, as is normal during the ninth week, resulting in angiomatosis of the related tissues. Variation in the degree of persistence or regression of the vascular plexus accounts for unilaterality or bilaterality of involvement, and also for an incomplete syndrome in which the leptomeninges, but not the facial tissues are affected. Leptomeningeal angiomatosis is the primary abnormality of encephalotrigeminal angiomatosis, all other features of the syndrome probably being secondary to this. Calcification of the cortex is a poorly understood phenomenon which may result from stasis of blood in the angioma, associated with altered local metabolism. Epilepsy and other neurological seizures, and mental retardation are probably, in their turn, secondary to the cortical calcification. The most striking clinical feature of the Sturge-Weber syndrome is the facial vascular naevus which generally follows the distribution of innervation of one or more divisions of the trigeminal nerve, whence the term encephalotrigeminal angiomatosis. However, the naevus may be more extensive, down the neck and even onto the chest. The oral tissues underlying the affected facial tissues are invariably also angiomatous and may be considerably enlarged as a result. Alterations in eruption of teeth have also been noted. Histologically, affected soft tissues are very vascular, resembling a pyogenic granuloma or a capillary, or cavernous hemangioma. Yukna, Cassingham and Carr noted that affected bone was partially replaced by a delicate fibrous tissue containing thin-walled vascular spaces. Neither inflammatory cells, nor fatty or haemopoietic marrow was noted.
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PMID:Encephalotrigeminal angiomatosis. 1496 51

Sturge-Weber syndrome (SWS) is a phakomatosis characterized by vascular nevus flammeus, leptomeningeal venous angiomatosis, seizures, dementia, hemiplegia, hemianopsia, and glaucoma. Various imaging findings (gyriform calcification, atrophy of the ipsilateral hemisphere, leptomeningeal enhancement, ipsilateral choroid plexus enlargement, thickened calvarium, enlargement of paranasal sinuses and mastoid air cells, enlargement of deep veins, and white matter change adjacent to leptomeningeal enhancement) are seen in SWS. We examined the efficacy of CT and MR imaging in making the diagnosis in 14 patients. All patients underwent CT and MRI, and 11 of 14 patients underwent contrast-enhanced MRI. The most specific finding was leptomeningeal enhancement. Gyriform calcification, atrophy of the ipsilateral hemisphere, and ipsilateral chroid plexus enlargement were seen at high frequencies. Thickened calvarium was more frequent in adult patients. Enlargement of paranasal sinuses and mastoid air cells, enlargement of deep veins, and white matter change adjacent to leptomeningeal enhancement were seen in some (3-5) patients. A combination of findings of plain CT and MRI (including postcontrast MRI and MR venography) are useful for diagnosing SWS.
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PMID:[Imaging of Sturge-Weber syndrome: cranial CT and MR findings]. 1521 82

Gustav Schimmelpenning was born in 1928 in Oldenburg (Germany). From 1971 until 1994 he was head of the Department of Psychiatry at the University of Kiel. In 1957, while training in neurology and psychiatry, he comprehensively described a case of sebaceous nevus involving the head, with ipsilateral ocular lesions including coloboma of the upper lid, increased density of cranial bones, epileptic seizures and mental retardation. He concluded that this combination of anomalies represented a new 'phacomatosis'. Subsequently this phenotype was reported by other authors under many different names, such as 'Schimmelpenning syndrome', 'Feuerstein-Mims syndrome', 'Schimmelpenning-Feuerstein-Mims syndrome', 'epidermal nevus syndrome', 'Solomon syndrome', 'linear sebaceous nevus syndrome', 'organoid nevus phacomatosis', or 'Jadassohn nevus phacomatosis'. As a consequence of this confusing terminology, Schimmelpenning syndrome even has two different OMIM entries (no. 163200 and no. 165630). The term 'Schimmelpenning syndrome' is both historically justified and practically sufficient to distinguish this phenotype from other epidermal nevus syndromes.
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PMID:Gustav Schimmelpenning and the syndrome bearing his name. 1531 59

This study was conducted in a tertiary pediatric epilepsy clinic to ascertain the spectrum of development malformations in children, with seizures. Seventy Six Children (0-12 yr) with seizures and CNS malformations based on neuroimaging were included. Observed anomalies included dysgenetic corpus callosum (DCC), lissencephaly, focal cortical dysplasia (FCD), pachygyria, polymicrogyria, heterotopia, schizencephaly, holoprosencephaly, hemimegalencephaly, and phakomatoses like tuberous sclerosis, Sturge Weber syndrome and linear cutaneous nevus syndrome. Seizure semiology varied in all categories. Microcephaly, developmental delay and tone abnormalities were common clinical findings. 60.5 percent cases presented in infancy. The characteristic EEG features provided a clue to the diagnosis of anomalies like lissencephaly, agenesis of corpus callosum and alobar holoprosencephaly.
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PMID:Spectrum of congenital CNS malformations in pediatric epilepsy. 1534 72

The neurocutaneous melanosis (NCM) is a rare, neuroectodermal dysplasia defined by the association of giant or multiple, nonmalignant pigmented cutaneous nevi with leptomeningeal melanosis or melanoma. As a rule, the cerebral pathological substratum is characterized by a melanocytic infiltration of the leptomeninges, often leading to hydrocephalus. The most frequent clinical symptomatology starts early in life, with convulsive seizures, psychomotor delay, intracranial hyperpression: the prognosis is severe. Malignant melanomas can also occur. One 21 years-old patient affected by NCM with a giant bathing nevus and epilepsy is reported. Her psychomotor development was slightly delayed. Academic progress was disturbed by the frequency of seizures and the multiple dermatological surgeries, and she remained at the elementary school level. Her epilepsy appeared at seven years and became pharmacoresistant. It was a focal, left temporal epilepsy. Neuroimaging investigations were performed repeatedly, and demonstrated the progressive appearance of parenchymal lesions with T1 and T2 shortening, without contrast enhancement, at the pons (11 years), the two hippocampi (14 years), and of an atrophy of the cerebellum and the brainstem (19 years). No hydrocephalus, tumoral aspect, or meningeal involvement were demonstrated. This patient's case is peculiar because her neurological symptomatology consists only of focal epilepsy, unrelated to a tumor, with moderate cognitive impairment despite a rather long course of the disease. Her evolution raises the question of condidency to surgical treatment.
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PMID:An unusual case of neurocutaneous melanosis. 1574 Nov 43

The authors present 2 months old child with giant congenital melanocytic naevus of thoraco-lumbosacralis region and numerous congenital pigmented nevi disseminated on the skin of the whole body, slight right hemiparesis and epileptic seizures. Magnetic resonance imaging (MRI) of the head performed at the age of 2 months showed melanin deposits in the temporal lobes. The diagnosis of neurocutaneous melanosis was made on the basis of clinical picture.
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PMID:[Neurocutaneous melanosis--case report]. 1576 73

The aim of this study was to present the case of the child with linear nevus sebaceous syndrome (LNSS) and hemimegalencephaly, diagnosed in neonatal period. It is one of the five epidermal nevus syndromes. Etiology of this multiorgan disease is still unknown. Most often LNSS consists of central nervous system, skeletal and ocular abnormalities. In present case different epileptic non-responsive seizures began in second week of life. In image exams hemimegalencephaly was found. EEG pattern showed generally discharges. The fits responded to vigabatrin. Psychomotor retardation was observed. Sometimes the skin lesion may be only manifestation of the syndrome. It is very important to perform early image and EEG examinations in LNSS.
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PMID:[Linear nevus sebaceous syndrome with hemimegalencephaly diagnosed in child in neonatal period]. 1599 40

Sturge - Weber syndrome (SWS) is a rare disorder that occur with a frequency of approximately 1 per 50,0001. It isa neurocutaneous syndrome, characterized by a facial vascular birthmark and neurological abnormalities. The hallmark is intracranial vascular angioma, most often involving the occipital and posterior parietal lobes, but it can also affect the other cortical regions. An ipsilateral facial cutaneous vascular malformation (port wine nevus)usually affects the upper face. Other clinical findings associated with SWS are seizures, glaucoma, hemiparesis,mental retardation and delayed developmental milestones. This article reports a case of 8 years old boy who presented with weakness of right half of body since birth, mental retardation and delayed developmental milestones. Clinical examination revealed deep purple nevus on left lower face, and less power of left upper & lower limbs.X-ray skull showed calcification. C.T. Scan of brain revealed curvilinear calcification with focal atrophy.
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PMID:Sturge - Weber syndrome. 1638 55

The sebaceous nevus syndrome describes the rare association of a sebaceous nevus with systemic features such as mental retardation, seizures and colobomas (among others). It is thought to be a cutaneous mosaic inherited as a paradominant trait. Three cases are provided illustrating the intraoral manifestations of the syndrome. The first histological comparison of contiguous mucosal and cutaneous lesions is provided. We also describe the possible association of SFM syndrome with a benign fibrous histiocytic lesion of the mandible. This and other mandibular tumors associated with the sebaceous nevus syndrome may have significant implications for patients. Awareness of the potential presence or development of significant intraoral lesions in association with the sebaceous nevus syndrome is important for those involved in the care of patients with this syndrome.
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PMID:Intraoral lesions associated with sebaceous nevus syndrome. 1642 Mar 15

The epidermal nevus syndrome (ENS) is a rare neurocutaneous disease characterized by extensive epidermal nevi and a wide variety of abnormalities involving brain, eyes, and skeleton. Neurological symptoms in ENS include seizures, paresis, and mental retardation and are usually ascribed to hemimegalencephaly and various migration disorders. It was suggested that in some patients neurological symptoms might be secondary to vascular abnormalities. We report a case of a patient with diagnosed ENS without any primary CNS lesions, who developed paraplegia resulting from spinal cord hemorrhage. The patient presented many vascular and skeletal anomalies.
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PMID:Epidermal nevus syndrome and intraspinal hemorrhage. 1661 99


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