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

Abnormal cerebral venous drainage is associated with hypoxia and glucose deprivation, which can account for progressive neurologic deterioration in Sturge-Weber syndrome. Although developmental delay is common in Sturge-Weber syndrome, bihemispheric calcification is uncommon. Computed tomography (CT) and magnetic resonance imaging (MRI) were used to study the neuroanatomy, while single photon emission computed tomography (SPECT) was used concurrently to evaluate perfusion and glucose metabolism using 99mTc hexamethylpropyleneamine oxime (HMPAO) and [18F] fluorodeoxyglucose (FDG), respectively. Ten patients (10 to 22 years of age) with previously diagnosed Sturge-Weber syndrome, port-wine nevi, and clinical evidence of seizures or stroke-like episodes were studied. Five children with onset of seizures in the first year of life had overall clinical severity comparable to that of children with later-onset seizures. Calcification was present in both hemispheres in one patient; six additional patients had other radiologic evidence of bihemispheric disease; SPECT studies detected bihemispheric disease in four cases. Our study is the first to concurrently evaluate structure, perfusion, and glucose metabolism in Sturge-Weber syndrome and to show a mismatch between functional and structural brain imaging in both cerebral hemispheres. Widespread abnormalities of cerebral perfusion and glucose metabolism might explain the high prevalence of developmental delay associated with Sturge-Weber syndrome. Longitudinal studies are needed to define better the natural history of neurologic deterioration and radiologic progression that relates to central nervous system circulatory dysfunction in Sturge-Weber syndrome.
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PMID:High prevalence of bihemispheric structural and functional defects in Sturge-Weber syndrome. 988 30

Sturge-Weber syndrome is characterized by the presence of a port-wine nevus, epilepsy, stroke-like episodes, headache, and developmental delay. We studied 20 cases to test the hypothesis that decreased cerebral blood flow alters neurologic function by affecting cellular glucose metabolism. Group A consisted of 10 patients with a mean age of 1.75 years and early seizure onset (6.8 months), whereas group B was composed of older patients (mean age, 15.3 years) with later onset of seizures (3.7 years). Neurologic disease was more severe in group A, but group B had more widespread structural brain defects - shown on computed tomographic scans and magnetic resonance imaging - and metabolic brain defects shown on hexamethylpropyleneamine oxime and [18F] fluorodeoxyglucose single photon emission computed tomographic scans. Six group A cases had hypoperfusion at baseline and five of nine had worsening of perfusion and glucose metabolism 1 year later. A total of 119 stroke-like episodes occurred in six group A cases and eight group B cases; there were 65% fewer strokes in children treated with aspirin. The data suggest that progressive hypoperfusion and glucose hypometabolism are associated with neurologic deterioration in Sturge-Weber syndrome. Longitudinal studies are needed to better define the natural history of disease and to evaluate the safety and efficacy of aspirin therapy.
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PMID:Central nervous system structure and function in Sturge-Weber syndrome: evidence of neurologic and radiologic progression. 988 31

We diagnosed phakomatosis pigmentovascularis type IIIb in an 11-month-old baby who had a giant nevus spilus, a nevus flammeus, and moyamoya disease. Development of the patient was normal until 6 months of age when he developed a sudden onset of focal seizures and left hemiparesis. This patient represents the sixth case of phakomatosis pigmentovascularis type IIIb, including three cases in the Japanese literature, reported thus far. However, to our knowledge, this is the first case with an association to moyamoya disease.
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PMID:Phakomatosis pigmentovascularis type IIIb associated with moyamoya disease. 1002 97

We report on a girl with a congenital pigmented hairy nevus of the scalp, epidermal nevi of the right temple, and localized cranial defects. We have not found other reported cases of giant pigmented hairy nevus of the scalp occurring with absence of underlying cranial bone. We speculate that the localized cranial defects are undergrowth anomalies representative of a paracrinopathy from the overlying nevus or simultaneous bone/skin dysplasia, the former having been resorbed. In the absence of a familial history of epidermal nevi and/or seizures, our patient represents a sporadic case, perhaps a somatic mutation.
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PMID:Epidermal nevi and localized cranial defects. 1009 94

Achromic nevus or nevus depigmentosus is a cutaneous abnormality consisting of a hypopigmented macular lesion which can present as circumscribed irregular, oval, or round or as a unilateral band or streak with a blocklike configuration or arranged along one or more Blaschko lines. When it is systematized, it is indistinguishable from hypomelanosis of Ito. Pigmentary anomalies along the lines of Blaschko can be associated with systemic features. For these reasons, 20 children, referred consecutively for evaluation of segmental, linear achromic nevus, were evaluated to define the incidence of associated abnormal systemic features. Extracutaneous abnormalities were present in 2 of 20 children (10%). The anomalies consisted of pes cavus ipsilateral to the hypopigmentation in one child and mental retardation, seizures, and hemihypertrophy in the second. This study confirms that achromic nevus, even when distributed along Blaschko lines, is commonly a benign lesion that is associated with systemic features in a small minority of cases.
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PMID:Segmental nevus depigmentosus: analysis of 20 patients. 1057 31

Epidermal nevus syndrome is seldom encountered, and its association with hypermelanosis and the chronic syndrome of inappropriate antidiuretic hormone secretion (SIADH) has never been reported. A male neonate who developed intractable seizures and hyponatremia soon after birth is reported. He had alopecic patches on the scalp at birth. Large areas of skin hyperpigmentation, and epidermal nevi developed gradually. The clinical picture of hypotonic hyponatremia, high urine osmolality, elevated urine sodium, and euvolemia was compatible with SIADH. The seizures did not correlate with the hyponatremia, and no other cause for the seizures could be identified. The hyponatremia became chronic and was treated with a direct supply of sodium chloride. The development of the patient was markedly delayed at the last visit when he was 1 year of age. It is suggested that hypermelanosis and chronic SIADH may also be a variant presentation of epidermal nevus syndrome.
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PMID:Epidermal nevus syndrome with hypermelanosis and chronic hyponatremia. 1073 24

We report here 38 Japanese patients with hemimegalencephaly collected by a national survey study. All the patients were sporadic. There was no familial occurrence or sex difference. Some patients had basic diseases: hypomelanosis of Ito in 3 cases and organic nevus syndromes in 8. Most patients had hemiparesis, and 11 were bed-ridden. All except for 3 patients had mental retardation, being profound in half of them. There was no correlation between the side of hemimegalencephaly and clinical symptoms. All patients had epileptic seizures, which first appeared within 24 hours after birth in 4 cases, within 7 days in 7, within a month in 2, within 6 months in 10, and within a year in 4. Antiepileptic drugs were not very effective for controlling seizures. In 7 patients, however, functional hemispherectomy resulted in seizure control and improved development. The patients whose epileptic symptom occurred earlier tended to be more severe in clinical symptoms.
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PMID:[Nation-wide survey on hemimegalencephaly in Japan]. 1082 78

An 11-month-old female patient presented with focal seizures. She was born at term with multiple scattered tiny protuberances and dark purple soft compressible nevi over her entire body. She had clumsiness and decreased muscle power in her left extremities. Magnetic resonance imaging and magnetic resonance angiography revealed cerebral atrophy of the right central area around the anomalous venous sinus and multiple small enhancing lesions throughout the brain with gadolinium-diethylenetriamine pentaacetic acid enhancement. Despite right partial neonatal seizures, she had no further seizures for 3 years while receiving carbamazepine, and no change was observed in the number and size of the nevi. At last evaluation, language and psychomotor development were normal for her age.
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PMID:Blue rubber bleb nevus syndrome with central nervous system involvement. 1091 37

Epidermal nevus syndrome (ENS) is a congenital neurocutaneous disorder characterized by linear nevus with a significant involvement of the nervous, ophthalmological and skeletal systems. Clinical manifestations of ENS include neurological features such as mental retardation, seizures, and movement disorders which are caused by a wide range of neuropathological lesions. We describe three patients with ENS, all of whom had in addition to the characteristic features of ENS intracranial and/or intraspinal lipomas. In one patient the lipoma extended from the thoracal vertebra 8 to the 4th ventricle; in the second patient it was localized on T9, and in the third patient an intracranial lipoma was located at the right cerebellopontine angle. The intraspinal lipomas caused a significant spastic movement disorder. So far, CNS lipomas have not been described as typical neuropathological findings in ENS. The differential diagnosis to encephalocraniocutaneous lipomatosis with the typical finding of CNS lipoma is discussed.
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PMID:CNS lipoma in patients with epidermal nevus syndrome. 1107 Nov 40

Neurofibromatosis and tuberous sclerosis are the most well-recognized of the congential phakomatoses, a group of six hereditary neuro-oculo-cutaneous disorders. Although easily diagnosed at birth by a parasagittal line of facial sebaceous naevi, the linear naevus sebaceous syndrome (LNSS) of Jadassohn is the rarest phakomatosis, one often characterized by airway and anaesthetic considerations that do not apply to the other phakomatoses. In addition to its obvious cutaneous manifestations, LNSS is characterized by hemifacial asymmetry, an anatomic predictor of difficult trachael intubation, and intractable seizure activity, a condition that limits selection of anaesthetics. The perioperative management challenges of LNSS are depicted in the presentation of two cases of LNSS with different outcomes and contrasted with the major anaesthetic considerations in the perioperative management of other, more common phakomatoses.
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PMID:Perioperative management of infants with the linear naevus sebaceous syndrome of Jadassohn: a report of two cases. 1111 2


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