Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report a case of man-in-the-barrel (MIB) syndrome occurring after an extensive revision involving thoracoilium instrumentation and fusion for iatrogenic and degenerative scoliosis, progressive kyphosis, and sagittal imbalance. Isolated brachial diplegia is a rare neurological finding often attributed to cerebral ischemia. It has not been previously reported in patients undergoing complex spine surgery. This 70-year-old woman, who had previously undergone T11-S1 fusion for lumbar stenosis and scoliosis, presented with increased difficulty walking and with back pain. She had junctional kyphosis and L5-S1 pseudarthrosis and required revision fusion extending from T-3 to the ilium. In the early postoperative period, she experienced a 30-minute episode of substantial hypotension. She developed delirium and isolated brachial diplegia, consistent with MIB syndrome. Multiple studies were performed to assess the origin of this brachial diplegia. There was no definitive radiological evidence of any causative lesion. After a few days, her cognitive function returned to normal and she regained the ability to move her arms. After several weeks of rehabilitation, she recovered completely. Man-in-the-barrel syndrome is a rare neurological entity. It can result from various mechanisms but most commonly seems to be related to ischemia and is potentially reversible.
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PMID:Man-in-the-barrel syndrome after thoracoilium fusion. 1903 49

Uniform conduction slowing has been considered a characteristic of inherited demyelinating neuropathies. We present an 18-year-old girl, born from first cousins, that presented a late motor and psychological development, cerebellar ataxia, facial diplegia, abnormal eye movement, scoliosis, and corpus callosum agenesis, whose compound muscle action potentials were slowed and dispersed. A mutation was found on KCC3 gene, confirming Andermann syndrome, a disease that must be included in the differential diagnosis of inherited neuropathies with non-uniform conduction slowing.
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PMID:Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome. 2246 73