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 patient with a rare case of Klippel-Trenaunay-Weber syndrome presented with paraplegia due to compression by a vertebral and epidural cavernous hemangioma. The metameric distribution of the large cutaneous vascular nevus provided the clinical clue to the nature of the spinal lesion. The association of the two lesions is explained in the basis of developmental anomaly.
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PMID:Vertebral and epidural hemangioma with paraplegia in Klippel-Trenaunay-Weber syndrome. Case report. 20 34

A 35-year-old male presented with a variant of neurocutaneous melanosis with leptomeningeal malignant melanoma. He had three pigmented nevi from birth. He suffered diplopia followed by headache. T1-weighted magnetic resonance (MR) imaging revealed hydrocephalus and a small linear hyperintense lesion in the right frontal cortex. Several parts of the cortical sulci and the brain surface were slightly enhanced by gadolinium. Ventriculoperitoneal shunting was performed and extensive pigmented leptomeninges were recognized. Open biopsy established the diagnosis of leptomeningeal malignant melanoma. Combined chemoimmunotherapy was repeated every other month with monitoring of the 5-S-cysteinyldopa (5-S-CD) level in the cerebrospinal fluid (CSF). The 5-S-CD level decreased after each treatment, but the basal level steadily increased prior to the next treatment. Two years after the onset, he showed paraplegia caused by an extramedullary mass at the T-6 level. MR imaging showed that melanoma had involved the entire subarachnoid space including the whole spine. He underwent emergent removal of the spinal tumor and showed transient marked improvement. Further intensive chemotherapy was given. However, he died 31 months after the onset of massive proliferation of intracranial leptomeningeal melanoma. Measurement of CSF 5-S-CD levels is valuable for evaluating the therapeutic efficacy and for monitoring the progression of melanoma.
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PMID:Neurocutaneous melanosis associated with malignant leptomeningeal melanoma in an adult: clinical significance of 5-S-cysteinyldopa in the cerebrospinal fluid---case report. 1472 71

The epidermal nevus syndrome (ENS) is a rare neurocutaneous disease characterized by extensive epidermal nevi and a wide variety of abnormalities involving brain, eyes, and skeleton. Neurological symptoms in ENS include seizures, paresis, and mental retardation and are usually ascribed to hemimegalencephaly and various migration disorders. It was suggested that in some patients neurological symptoms might be secondary to vascular abnormalities. We report a case of a patient with diagnosed ENS without any primary CNS lesions, who developed paraplegia resulting from spinal cord hemorrhage. The patient presented many vascular and skeletal anomalies.
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PMID:Epidermal nevus syndrome and intraspinal hemorrhage. 1661 99

Cutaneomeningospinal angiomatosis, or Cobb syndrome, is a rare metameric developmental disorder presenting as an extradural-intradural vascular malformation that involves bone, muscle, skin, spinal cord, and nerve roots. A 14-year-old girl with a red nevus involving the T6-9 dermatomes on the left side of her back presented with a 5-year history of bowel and bladder incontinence, paraplegia, and lower-extremity sensory loss. Magnetic resonance imaging demonstrated a hemangioma in the T-8 and T-9 vertebral bodies and a spinal cord AVM nidus extending from T-6 to T-9. The AVM was successfully embolized and the patient regained lower-extremity strength, ambulation, and normal sphincter functions after 5 years of having been wheelchair bound. The authors report the restoration of ambulation after endovascular embolization of a large spinal AVM in a patient with long-standing paraplegia due to Cobb syndrome.
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PMID:Spinal arteriovenous malformation associated with spinal metameric syndrome: a treatable cause of long-term paraplegia? 2222 85

Cobb syndrome is an exceedingly rare clinical condition defined by the presence of a vascular skin nevus and an angioma in the spinal canal at the same metamere. We report the case of a 14-year-old boy who presented with sudden onset paraplegia. Physical examination showed port-wine stains over buttock and thigh. Magnetic resonance (MR) angiogram of the dorso-lumbar spine revealed a large arteriovenous malformation (AVM) at D11-D12 to L2-L3 levels. These concurrent findings led to the diagnosis of Cobb's syndrome. The patient received orally administered prednisolone therapy and underwent endovascular embolization of spinal angioma. Cobb's syndrome is a rare disease entity and literature search revealed only a few case reports and series mentioning this condition to date. The importance lies in the recognition that cutaneous vascular lesions may clue to an associated spinal cord angioma or AVM that may lead to weakness or paralysis.
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PMID:Cobb syndrome: A rare cause of paraplegia. 2613 Sep 30