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)

Neurocutaneous melanosis (NCM) is known as a rare phakomatose characterised by large or numerous pigmented congenital nevi associated with leptomeninges melanin-containing deposits. We report a case of a newborn presenting at birth with a giant nevus covering about 40% of the total body surface. MRI showed T1 hyperintensities in the right amygdala and predominantly in the cerebellum corresponding to melanocytic cells.
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PMID:Neurocutaneous melanosis in a newborn with giant congenital melanocytic nevus. 1772 49

The origin of cranial epidermoid cysts (EC) remains controversial, and although generally considered to be congenital, acquired origin has been reported. EC represent 0.2 to 1.8% of all brain tumours, and only one fourth are intradiploic in location. We report of a 44-year-old woman with a giant intradiploic EC of the occipital bone with intracranial extension confirmed on brain MRI. Three years previously, in the same location, she underwent resection of an intradermal melanocytic naevus of the skin under local anaesthesia with lidocaine infiltration of skin and periosteum. Brain CT scan performed at the time of naevus surgery because of associated headache did not show a lesion of the cranial vault. Iatrogenic epidermoid tumours are extremely rare, and although seeding of epidermal cells has been classically described only after lumbar puncture, the same mechanism may be involved after head injury, cranial surgery or cranial periosteal iatrogenic puncture.
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PMID:Giant occipital intradiploic epidermoid cyst associated with iatrogenic puncture. 1830 60

A 27-year-old white woman presented with enophthalmos in the right eye. The visual acuity was 20/20 in both eyes. External examination showed 7 mm of enophthalmos of the right eye with deepened superior palpebral sulcus compared with the left eye. After Valsalva maneuver, the right eye became 4-mm exophthalmic compared with the left eye. Extraocular movements were full. There was no palpable orbital mass or diplopia. MRI showed diffuse enhancing intraconal orbital and nasopharyngeal masses consistent with venous malformations in the right orbit. Systemic evaluation revealed bluish vascular lesions on the hard and soft palates, and the pretibial area of her right leg. These findings were suggestive of blue rubber bleb nevus syndrome. The patient was observed, and her clinical findings remained stable for 12 months. Enophthalmos can be a rare initial presentation of blue rubber bleb nevus syndrome and patients with ophthalmic involvement should undergo systemic evaluation including gastrointestinal, dermatologic, and otorhinolaryngologic examination.
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PMID:Multiple orbital venous malformations presenting with enophthalmos in a patient with presumed blue rubber bleb nevus syndrome. 1864 52

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

An infant who had an extensive cutaneous melanotic nevus with satellite lesions had cranial US for an unrelated problem. Small spherical echogenic foci in the cerebral and cerebellar parenchyma were identified. Subsequent MRI confirmed these as characteristic of melanotic deposits, thereby identifying this infant as having neurocutaneous melanosis.
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PMID:Ultrasonographic detection of intracranial melanocytosis in an infant. 1976 54

We report a patient with Sturge-Weber Syndrome (SWS) who developed migraine-like headaches followed by cerebral infarction. SWS without facial nevus was diagnosed based on calcification detected by CT and pial angioma detected by enhanced MRI. His migraine-like headaches were preceded by left homonymous hemianopsia, which persisted for more than 60 min. Although homonymous hemianopsia disappeared with cessation of the headache until 13 years of age, from age 14 years onward, this homonymous hemianopsia persisted after the headaches ended. Moreover, reduced cerebral blood flow was seen in the right occipital area on SPECT. At first, his left homonymous hemianopsia persisted for several months after the headache disappeared, but it had recovered completely. However, the durations of episodes of left homonymous hemianopsia, which persisted after headache disappearance, gradually became longer. At last one year after his first admission, the visual defect had become permanent. SWS is well known to be associated with migraine attacks and hemianopsia. However, the course of our present patient, i.e. recurrent homonymous hemianopsia, associated with migraine-like headaches becoming permanent, is rare. The pathophysiological mechanism underlying this clinical course is uncertain. The efficacy of valproate and propranolol as preventive therapy has been inadequate, to date.
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PMID:Prolonged left homonymous hemianopsia associated with migraine-like attacks in a child with Sturge-Weber syndrome. 1980 Jul 49

Blue rubber bleb nevus syndrome is a rare vascular disorder characterized by cavernous angiomas of skin and other organs including the gastrointestinal tract. The central nervous system involvement is seldom reported, and neurological symptoms at onset in adulthood are extremely rare. Here, we describe a case of 82-year-old patient presenting multiple skin haemangiomas for some years, who was admitted for a brain hemorrhage. The MRI demonstrated the presence of multiple cavernous angiomas within the cerebral tissue.
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PMID:Blue rubber bleb nevus syndrome with late onset of central nervous system symptomatic involvement. 2035 69

Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by intracranial leptomeningeal angioma, facial port-wine nevi, and glaucoma. Diagnosis is relatively easy because of the facial angioma and MRI findings, but evaluating severity is difficult. Predictors of SWS's prognosis are epilepsy and brain dysfunction under the leptomeningeal angioma. Therefore, active research has been intensely conducted with electrophysiological, neuroimaging, and neuropsychological methods. Final goals of this research are to define the therapeutic strategy. In this review, we focus on recent advances in neuroimaging and EEG analysis to discover the epileptogenesis, the most adequate therapy, and prospective topics of investigation in SWS.
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PMID:[Sturge-Weber syndrome]. 2062 87

A 1-year-old female infant presented with congenital giant, hairy and pigmented nevi. MRI scan as screening test revealed a cerebellar tumor. A diagnosis of provisional neurocutaneous melanosis was made on the basis of the patient's MRI and physical findings. At her 6 years of age, MRI revealed the tumor grown up to 3 cm diameter in 5 years. The cerebellar tumor was removed partially using the occipital transtentorial approach for tissue diagnosis. The color of the cerebellar tumor was whitish and contained neither benign nor malignant melanocyte. Pathological examination revealed diffuse astrocytoma. Finally residual cerebellar tumor was totally removed at a second surgical resection. To our knowledge, this is the first patient to be reported with astrocytoma complicated giant skin nevus except neurocutaneous syndrome cases.
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PMID:[A rare case of diffuse astrocytoma complicated with giant pigmented hairy nevi, suspected neurocutaneous melanosis]. 2151 98

A newborn baby boy presented with giant melanocytic nevi on the face, trunk and extremities, and focal cortical dysplasia on MRI. At 3 months of age, he developed intractable epilepsy, and MRI at 2 years of age revealed a high-intensity area in the bilateral cerebellum on T1-weighted images, indicative of melanosis. Based on the findings of the skin and MRI, we diagnosed the boy with neurocutaneous melanosis. Cytodiagnosis of cerebrospinal fluid showed no malignancies. EEG, magnetoencephalogram and ECD-SPECT indicated that the clonic seizures originated from a focus in the right focal cortical dysplasia. Complications also included sebaceous nevus of the head and face, which was characteristic of sebaceous nevus syndrome, lipoma of the face and cauda equina, and limbal dermoid. Sebaceous nevus syndrome may have been due to certain allelic defects that were independent of those for neurocutaneous melanosis.
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PMID:[A case of neurocutaneous melanosis associated with focal cortical dysplasia]. 2180 Jun 95


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