RESUMO
A 65-year-old gentleman presented with a history of abdominal distension and difficulty in walking 10 years after a Polya partial gastrectomy. Clinical history and neurological examination suggested an axonal sensory neuropathy. A computed tomographic scan of the abdomen showed a large afferent jejunal loop, and a hydrogen breath test confirmed small-bowel bacterial overgrowth secondary to the blind loop syndrome. Serological tests revealed low copper levels, which are a cause of a myeloneuropathy. The trace element deficiency occurred as a consequence of small-bowel bacterial overgrowth, and with antibiotic treatment of the bacterial overgrowth and copper supplementation his symptoms markedly improved.
Assuntos
Síndrome da Alça Cega/etiologia , Marcha Atáxica/etiologia , Gastrectomia/efeitos adversos , Idoso , Síndrome da Alça Cega/diagnóstico por imagem , Cobre/deficiência , Humanos , Masculino , Doenças da Medula Espinal/etiologia , Tomografia Computadorizada por Raios X , CaminhadaRESUMO
We identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position -526bp. This mutation was in a highly conserved SOX10 binding site. Functional studies were conducted on the Cx32 promoter that showed that this mutation reduced the activity of the Cx32 promoter and the affinity for SOX10 binding. These data suggest that interaction between the Cx32 P2 promoter, SOX10, and EGR2 highlight a mechanism of peripheral nerve dysfunction.