Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

Blue rubber bleb nevus syndrome (BRBNS), also called Bean's syndrome, is a rare disease associated with multiple venous malformations in the skin and gastrointestinal (GI) tract. Dermatological lesions, which are the first clinically visible manifestations, appear as skin-colored compressible protuberances or as dark-blue venous nodules, rubbery in consistency. Central nervous system (CNS) manifestations are rare, variable, non-specific, and tend to occur late in the disease, mainly reported as seizures and focal neurological deficits secondary to compression. Most cases occur sporadically, however, an autosomal dominant inheritance pattern has been reported. A 74-year-old male with history of focal epilepsy secondary to possible neurocysticercosis presented at the emergency department due to sudden onset of aphasia, left central facial paralysis, and dysphagia secondary to catastrophic intracerebral hemorrhage. Cerebral MRI showed multiple cerebral cavernous malformations (CCM)-like lesions and, on the general exploration, multiple dark-blue nodules, rubbery in consistency. One week later he died due to complicated pneumonia; a brain autopsy was performed showing multiple vascular malformations. His son had a history of focal epilepsy presumed to be related to neurocysticercosis. He had the same skin lesions and brain MRI pattern. Histological analysis of the skin lesions of the two cases showed venous vascular malformations. A non-systematic review was carried out, in which all case reports of blue nevus syndrome with neurological manifestations in adults were included.
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PMID:Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review. 3231 9