Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical, electrophysiological and histopathological features in seven cases of cisplatinum peripheral neuropathy are reported and compared with the literature data. The neuropathy appears for an average intake of 500 mg/m2 of DDP. The symptoms are those of a symmetric, distal, predominantly sensitive neuropathy of an axonal type with major involvement of proprioception. Neurological improvement is poor after withdrawal of the drug. A post mortem study performed in one case showed a degeneration of the posterior column in the cord and residual nodules of Nageotte in a lumbar spinal ganglion. The systematic study of the tendon reflexes and distal pallesthesia in subjects treated with the drug, may reveal the neuropathy before the onset of the most disabling symptoms (paresthesia, ataxia, pain, Lhermitte's sign).
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PMID:[Neuropathy caused by cisplatin. 7 cases including one with an autopsy study]. 303 13

After four months of excessive nitrous oxide (N2O) exposure, a dentist had myeloneuropathy with spastic paraparesis, Lhermitte's sign, sensory shading, loss of position and vibration sense, ataxia, and impotence. Macrocytosis, hypersegmented neutrophils, and a reduced vitamin B12 level were associated with normal findings on gastric analysis and Schilling test. Complete hematologic and neurologic recovery followed N2O avoidance and vitamin therapy for six months.
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PMID:Myeloneuropathy and macrocytosis associated with nitrous oxide abuse. 630 15

A case of acute myelitis associated with atopic dermatitis, hyperIgEemia and mite antigen specific IgE was reported. A 22-year old woman with a history of atopic dermatitis since her childhood began to have numbness in her legs, which extended upward to her upper part of chest in four days. Neurological examination revealed Lhermitte's sign, moderate disturbance of superficial and deep sensation below the Th4 level, and sensory ataxia. She also showed exaggerated deep tendon reflexes in the upper extremities and urinary difficulty. MRI studies revealed an intramedullary T1-low, T2-high lesions without Gd-DTPA contrast enhancement in the posterior part of the cervical spinal cord at C3 level. The laboratory examination revealed normal CSF, and the elevated level of serum IgE and mite-antigen-specific IgE in sera. We conclude that this case is thought to be atopic myelitis, which was reported as acute myelitis associated with hyperIgEemia and atopic dermatitis proposed by Kira et al. This is the first report of a case outside of Kyushu area in Japan.
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PMID:[A case of atopic myelitis in the area other than Kyushu Island]. 1196 49

We describe a 25-year-old male patient with primary diffuse leptomeningeal gliomatosis (PDLG) presenting with gait ataxia, positive Lhermitte's sign, double vision, and right abducens nerve palsy. Spinal magnetic resonance imaging showed extended intradural, extramedullary, contrast-enhancing masses with compression of the myelon. Spinal leptomeningeal biopsy revealed a pilocytic astrocytoma WHO grade I. Despite chemotherapy with vincristin and carboplatin, the patient died 2 months after admission. A thorough autopsy showed no evidence for primary neoplasms in brain, spine and optic nerve. Sequence analysis of tumor protein 53 gene (TP53) revealed a missense mutation in exon 5, and expression of phosphatase and tensin homolog (mutated in multiple advanced cancers 1) (PTEN) protein was not detected, which may have contributed to astrocytoma development. To our knowledge, this is the first definitive case of pilocytic astrocytoma presenting as PDLG.
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PMID:Pilocytic astrocytoma presenting as primary diffuse leptomeningeal gliomatosis: report of a unique case and review of the literature. 1600 41

A previously well 30-year-old woman presented at 17:30 with a sudden onset of dizziness, ataxia and headache. She was initially investigated with a CT scan of the brain and lumbar puncture, which yielded no diagnosis. Subsequent MR scan revealed multiple posterior circulation infarcts, along with a previously undiagnosed Arnold-Chiari 2 malformation with an associated syrinx of her cervical and thoracic spine. The infarct involved one of the herniated cerebellar tonsils. Oedema of an infarct in the herniated tonsils caused compression of the medulla at the foramen magnum, with associated neurological symptoms including Lhermitte's phenomenon and headache on valsalva manoeuvre. Owing to these symptoms a surgical decompression was performed. The most likely aetiology of her stroke was determined to be a paradoxical embolus via patent foramen ovale.
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PMID:Urgent decisions and a tight spot: embolic infarction of a herniated cerebellar tonsil. 2748 65