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

Neurocutaneous melanosis is a rare noninherited embryonic neuroectodermal dysplasia, which is observed sporadically and never affects the entire integument. The hallmark of neurocutaneous melanosis in the neonatal period is the presence of a large bilateral hairy dark nevus with satellite nevi over the trunk and neck. The diagnosis should be considered in neonates with large pigmented nevi and in those with more than 3 hairy dark nevi regardless of their size. Neonates with neurocutaneous melanosis are at risk of developing neurological problems. The most common neurological complications are hydrocephalus, seizures, cranial nerve dysfunction, and signs of spinal cord and root involvement. The authors report 3 cases of histologically confirmed neurocutaneous melanosis and describe the course of neurological symptoms and clinical findings including cognitive tests and neuroimaging. The case reports are complemented by an up-to date review on this clinical entity.
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PMID:Neurocutaneous melanosis: report of three cases and up-to-date review. 1907 43

A three-year-old boy presented with status epilepticus with right hemiconvulsion and complex partial status epilepticus (CPSE) that were preceded by disturbance of consciousness and right hemiplegia just after a traumatic head injury. He was diagnosed as Sturge-Weber syndrome (SWS) because of the presence of a small cutaneous port-wine nevus and the nature of his MRI findings. The nevus was located in the middle of the forehead and was light in color. Intravenous drip infusion of lidocaine was effective for the treatment of CPSE, but the patient has experienced refractory complex partial seizures since then. It has not yet been reported that patients with SWS developed CPSE following head trauma, although it is known that patients with SWS can manifest convulsive status epilepticus. CPSE should be recognized as one of the seizure types of SWS.
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PMID:[Case of Sturge-Weber syndrome manifesting complex partial status epilepticus]. 1917 18

A 14-day-old boy presented with a large congenital melanocytic nevus over his left thigh with approximately 17 satellite nevi distributed over the rest of his skin surface. Six weeks later, he developed generalized tonic-clonic seizures and additional satellite nevi became apparent (n > 20). A subsequent brain magnetic resonance imaging demonstrated right temporal T1 hyperintense signal abnormality. At 4 months of age the patient underwent a lumbar puncture that was normal without evidence of melanocytes or tumor. Nevertheless, a few days later he underwent resection of his right medial temporal lesion which demonstrated melanocytosis in the temporal lobe as well as melanocytosis in subependymal areas in other parts of the brain and ventricles, confirming the suspected diagnosis of neurocutaneous melanocytosis. Our case supports previous studies that conclude that the number of satellite nevi is a greater predictor of neurocutaneous melanocytosis than is the location of large congenital melanocytic nevus. In our case, cerebrospinal fluid studies were not reliable even in the face of florid neurocutaneous melanocytosis involving the leptomeninges and ventricles.
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PMID:Large congenital melanotic nevi in an extremity with neurocutaneous melanocytosis. 1925 Apr 13

Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome consisting of port wine stain (facial nevus flammeus), congenital glaucoma and underlying anomalous leptomeningeal venous plexus with lack of normal cortical venous drainage. Neuromuscular, ocular, dermatologic and oral manifestations are variously present with this syndrome. The syndrome presents with various oral findings and the diagnosis of these cases is based primarily on clinical findings. Considering the complications that may be encountered during the treatment and the patient's own perception of the condition, it is imperative that the diagnostician and surgeon have thorough knowledge of the condition. Here we report a case of SWS with facial angiomas, seizures and intracranial calcifications.
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PMID:Sturge-Weber syndrome: physician's dream; surgeon's enigma. 1954 94

Sebaceous lesions are associated with two syndromes with widespread multisystem disorders and tumors. Linear sebaceous nevus syndrome has been traditionally known as the triad of sebaceous nevus of Jadassohn, seizures, and mental retardation. This syndrome encompasses a much broader spectrum of multisystem disorders, which is explored below. Muir-Torre syndrome is described as the presence of sebaceous tumors or keratoacanthomas with an underlying visceral malignancy. It is caused by mutations in DNA mismatch repair genes. We discuss its relationship with Lynch syndrome and suggest a comprehensive algorithm on how to screen patients with sebaceous neoplasms for Muire-Torre syndrome. We also provide suggested intensive cancer screening guidelines based on recommendations for patients with Lynch syndrome that may also be of value for patients with Muir-Torre syndrome.
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PMID:Sebaceous lesions and their associated syndromes: part II. 1975 80

The sebaceous nevus syndrome (SNS) is characterized by the presence of a sebaceous nevus and extracutaneous abnormalities, usually involving organs derived from the neuroectoderm. The authors report the case of a 22 year-old patient with a systematized sebaceous nevus on the forehead and scalp and a history of developmental delay and severe seizure disorders. The father of the patient also indicated prior surgery to correct an ocular coloboma and prior removal of a squamous cell epithelioma of the tongue. Firstly described by Gustav Schimmelpenning in 1957, SNS, also known as 'Schimmelpenning-Feuerstein-Mims syndrome', is one of the six different types of epidermal nevus syndromes. In patients with SNS the risk of developing neoplasms is higher than that of the general population. The particularity of our case lies in the late diagnosis. The authors believe that early diagnosis and awareness of the potential presence of neoplasms are important for those involved in the care of patients with SNS.
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PMID:A case of sebaceous nevus sindrome (Schimmelpen-ning-Feuerstein-Mims syndrome). 1983 40

Sturge-Weber syndrome is a neurocutaneous syndrome characterised by facial port wine stain, ipsilateral leptomeningeal angioma and vascular eye abnormalities. We report a rare case of Sturge-Weber syndrome without facial nevus presenting with neonatal seizures.
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PMID:Sturge-Weber syndrome without facial nevus: an unusual cause of neonatal seizures. 2050 Apr 32

A 5-month old female child with seizures, motor defect, and EEG abnormalities with a hypopigmented skin lesion suggestive of nevus depigmentosus is presented.
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PMID:Cns abnormality in nevus depigmentosus. 2088 37

The Schimmelpenning-Feuerstein-Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurrence of discordant monozygotic (MZ) twins with severe SFM, supporting the concept of a postzygotic mutation.
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PMID:Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. 2094 22

A 3-year-old girl was diagnosed as having linear nevus sebaceous syndrome. The nevus sebaceous was located on the left side of the face and neck. An unusually large lacrimal gland was completely ectopic below the entire left conjunctiva, with secondary ectropion of the left upper eyelid. The patient had the unusual finding of dentigerous cysts in both maxillary sinuses. Computed tomography scan showed atrophy of the left cerebral hemisphere, accompanied by a history of seizures; furthermore, the patient was mentally retarded. This phenotypic pattern of linear nevus sebaceous syndrome is typical for patients with multiple associated abnormalities.
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PMID:Linear nevus sebaceous syndrome in a patient with atypical associated abnormalities. 2121 57


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