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

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

Epilepsy presenting early in childhood may be associated with a neurologically devastating clinical course and have significant implications for the child's development. There are limited published data regarding the clinicopathological features of patients who have undergone epilepsy surgery in the first year of life and the role such surgery may have in reducing seizure frequency. This study retrospectively reviews the clinicopathologic features of eight patients from a tertiary care setting who underwent surgery for epilepsy in the first year of life. Eight infants, including seven males and one female, underwent surgery for epilepsy at 3-11 months of age (median 7.5 months). Age at the time of seizure onset ranged from birth to 2 months. Epileptogenic foci were localized by electroencephalographic and radiographic studies to the right side in five patients and left side in three patients. Histopathological findings in excised tissues included cortical dysplasia (n = 7), hemimegalencephaly (n = 3), and Sturge-Weber syndrome (n = 1). Dysplasia was marked by abnormalities in cortical lamination and neuronal orientation (n = 7), neuronal cytomegaly (n = 6), increased molecular layer neurons (n = 5) and balloon cells (n = 2). One patient was known to have epidermal nevus syndrome. Two patients required additional surgery for continued seizures. At last known follow up, all but one patient, who died in the postoperative period, were alive with no or decreased seizures at postoperative intervals of 3-60 months (median 13 months). Surgery can potentially ameliorate epilepsy in patients less than 1 year of age. Most of the patients in this series had cortical dysplasia as the underlying pathology of their epilepsy.
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PMID:Clinicopathological findings in patients who have undergone epilepsy surgery in the first year of life. 1097 60

Surgery for intractable epilepsy is being offered at progressively younger ages, including infancy. The most common causes of catastrophic epilepsy in very young surgical candidates are focal malformations of cortical development and low-grade tumors. Additional causes include Sturge-Weber syndrome, epidermal nevus syndrome, hemimegalencephaly, and prenatal or perinatal infarction. Many infants manifest with focal seizures, whereas some patients have infantile spasms in the setting of a focal epileptogenic lesion. Video electroencepholography, magnetic resonance imaging, and positron emission tomography are critical investigations to explore surgical options. In small series, the percentage of infants free of seizures after surgery was in the range of 60%. This is similar to that seen after epilepsy surgery in older children, adolescents, and adults. However, larger series with long-term follow up will be important. Furthermore, the extensive procedures required in infants for removal of the epileptogenic developmental lesions entail some risk, and should not be offered in the absence of severe epilepsy. Most infant candidates for epilepsy surgery have significant developmental delay. Few data are available, but anecdotal experience suggests that surgical relief of catastrophic epilepsy may result in resumption of developmental progression. For each infant, the timing of surgery must be carefully considered based on full assessment of the relative risks and benefits, derived from a detailed presurgical evaluation.
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PMID:Epilepsy surgery in infancy. 1102 76

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

The authors report the findings of multimodal structural, functional, and metabolic imaging in a patient with linear nevus sebaceous syndrome, intractable seizures, and right megalencephaly. Despite nearly continuous paroxysmal electrical activity from the megalencephalic region, imaging studies suggested nonfunctional tissue in this region with reorganization of cortical function to the unaffected ipsilateral hemisphere. Hemispherectomy has been successfully performed in previous patients; however, it could have led to marked left hemiparesis with significant functional morbidity in this patient because of ipsilateral reorganization of the primary motor cortex.
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PMID:Cortical reorganization in linear nevus sebaceous syndrome: a multimodality neuroimaging study. 1114 3

A one-month-old male infant with generalized seizures since 2 days old was evaluated at the Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. His seizures were initially characterized as focal movement of the right upper and lower limbs followed by generalized tonic. Initially, phenobarbital was administered but failed to control his seizures. Physical examination revealed generalized mild hypotonia with a hyperpigmented brownish patch affecting the left side of his face. The initial diagnosis was sebaceous nevus syndrome which is one of the neurocutaneous syndromes. The diagnosis was confirmed by skin biopsy of the affected lesion. The literature was reviewed and discussed. The authors emphasized the importance of thorough physical examination including evaluation of specific skin lesion which would be a leading clue in making the diagnosis of symptomatic epilepsy in infants.
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PMID:Sebaceous nevus syndrome as the underlying cause of intractable seizures in a one-month-old infant. 1254 6

Linear sebaceous nevus syndrome (LSNS) is a rare neurocutaneous syndrome that is associated with seizures and mental retardation. The cortical abnormalities that are associated with this syndrome include focal cortical dysplasia, partial hemimegalencephaly and holohemispheric hemimegalencephaly. Few reports have addressed the utility of cortical resections for epilepsy treatment in the setting of LSNS. We report 3 children with this syndrome who underwent extensive cortical resections and experienced significant improvement in seizure frequency. Our results support the utility of extensive cortical resections for children with this condition.
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PMID:Cortical resection for epilepsy in children with linear sebaceous nevus syndrome. 1287 91

Epidermal nevus syndrome is a kind of neurocutaneous syndrome that is associated with epidermal nevus and a variety of congenital CNS disorders. Clinical presentations include seizures, paresis, mental retardation, and developmental delay. We report three cases with MR imaging and magnetoencephalography findings; one patient underwent ictal and interictal single photon emission CT. Both structural and functional imaging studies indicated that the frontal lobes had lesser involvement or were intact. One patient underwent hemispherectomy because of the medically intractable seizure. He remained seizure free with topiramate monotherapy.
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PMID:Neuroimaging features of epidermal nevus syndrome. 1291 49

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

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


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