Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of spinal meningeal melanocytoma is reported along with clinicopathologic, immunohistochemical and ultrastructural studies. This patient presented clinically with paraparesis, tingling sensation and numbness of both lower extremities of 4 months duration. No mucocutaneous pigmented nevi were found. On operation, scattered coal-black pigmented lesions were found in the meninges between T3 and T4-5 interspace level. Nearly total removal was carried out. The tumor was composed of spindle and epithelioid cells with heavy brown-black pigmentation. There was no pleomorphism, mitosis, hemorrhage, necrosis or invasion to the underlying cord tissue. In Korea, this case appears to be the first example of this disease. Neurologic deficit improved after surgical excision.
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PMID:Spinal meningeal melanocytoma. 129 41

A 44-year-old male had paraparesis which had began at age 20 years; a cleft spinal cord (diastematomyelia) was discovered at cervicodorsal level. The patient had nevus and hypertrichosis in the skin overlying the dysraphic spinal cord malformation. Both computer-assisted myelography and magnetic resonance scan showed the spinal cord segmentation and other associated disorders: bone spicula projecting between the 2 cordal halves, vertebral fusion defect and syringomyelic cavity. We emphasize the rarity of this abnormality in a so high spinal cord level and the onset of symptoms at adult age.
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PMID:[Cervicodorsal diastematomyelia in an adult]. 270 Mar 8

Blue rubber bleb nevus syndrome (BRBNS), which consists of cutaneous and visceral hemangiomas, is a rare disease. Complications such as gastrointestinal (GI) bleeding, anemia and coagulopathy have been documented. We report a patient with BRBNS who presented with acute paraparesis in addition to GI bleeding and coagulopathy.
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PMID:Gastrointestinal bleeding and paraparesis in blue rubber bleb nevus syndrome. 772 89

The authors report a surgical experience on eight case of intra spinal lipomas. These lumbo-sacral malformations belong to post-neurulation defect, in such conditions spinal cord undergoes tethering while child growing that lead to a slow neurological disturbance. Through this study, authors show that female is more involved than male (5/3. On 6 cases the diagnosis have been made before the age of 2 years old. Three groups of signs characterize dramatically intra spinal lipomas: skin-median lumbo-sacral stigmata (8 cases) such as hypertrichosis, nevi etc. neuro-orthopedic disturbance(3 cases): club foot, paraparesis. sphincter disturbance: vesical or anal incontinence. In the lack of C.T. scan and M.R.I. contrast medium myelography confirm the diagnosis. Surgical excision lead to characterization of 4 extra dural lipomas, one sub dural, and 3 mixed lipomas. 75% of the patient improved well. One dealing with this kind of pathology must avoid the misdiagnosis of enuresis.
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PMID:[Lumbosacral intraspinal lipomas associated or not with a tethered cord syndrome (series of 8 cases)]. 982 48

Cobb syndrome is a rare clinical entity that includes the combination of a vascular skin nevus and an angioma in the spinal canal present at identical dermatomal level(s) (cutaneomeningospinal angiomatosis). To date, 38 cases have been reported, only 18 of which are in adults (> 18 years of age). The majority of these cases have been described in the era predating current neuroimaging techniques, and most authors have assumed that each case involves similar vascular pathology. This report highlights 2 patients presenting with similar thoracic cutaneous vascular nevi yet with markedly differing spinal vascular pathology. A 29-year-old man presented with cutaneous hemangioma and a progressive paraparesis and paresthesia of the lower extremities. A 20 x 20-cm port-wine stain over his right upper midback (T6-10) correlated precisely with MR imaging that demonstrated an enhancing epidural mass between T-6 and T-10 causing compression of the cord and cord edema. A 34-year-old man also presented with progressive myelopathy and a 15 x 20-cm port-wine stain within the same dermatomal region as a Type III spinal arteriovenous malformation. Workup for each patient included pre- and postoperative contrast-enhanced MR imaging with vascular sequencing and spinal angiography. The first patient was treated with bilateral laminectomy at the T6-10 levels, with significant postoperative improvement in motor strength. The second patient underwent coil embolization of an intranidal aneurysm, with follow-up embolization 8 years later. Cobb syndrome is an unusual entity in the adult population and should be considered when there is a constellation of cutaneous manifestation and underlying neurological deficit. The vascular skin nevus associated with Cobb syndrome is accompanied by a wide variety of vascular pathologies.
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PMID:Variety of spinal vascular pathology seen in adult Cobb syndrome. 1944 4