RESUMO
The so-called Xp21 contiguous deletion syndrome or complex glycerol kinase deficiency (GKD) usually presents with classical Duchenne muscular dystrophy (DMD) or a milder dystrophic myopathy, adrenal hypoplasia, and GKD. A number of syndromic and nonsyndromic cases of agenesis of the corpus callosum (ACC) also map to that location. To date, none of the cases of complex GKD have been associated with ACC. Here, we report on a patient with a complex phenotype as a result of the Xp21 contiguous deletion syndrome in association with ACC. Biochemical, cytogenetic, and molecular analyses were performed to detect and establish the size of the genomic deletion. It is at least 3 million base pairs in length; however, exact limits could not be determined in the present study. Nevertheless, we suggest the presence of a primary gene involved in the embryogenesis of the corpus callosum between Xp21.1 and Xp22.11.
Assuntos
Agenesia do Corpo Caloso , Deleção de Genes , Glicerol Quinase/genética , Cromossomo X , Criança , Humanos , Recém-Nascido , Masculino , SíndromeRESUMO
The impact of magnetic resonance imaging (MRI) on the clinical management of patients with foot inflammation and suspected osteomyelitis was evaluated in 44 patients with 47 foot MRI exams. Twenty-nine patients were diabetic. Bone biopsy or bone culture was obtained in 34 patients, and routine radiographs and bone scan studies were available in most patients for comparison. Magnetic resonance imaging showed reliable identification of bone infection with a sensitivity of 100% and specificity of 95%. Plain radiographs were inaccurate and, as expected, bone scans were highly sensitive (90%) but not specific (33%). The high accuracy of MRI allowed for better identification of patients with osteomyelitis and, therefore, improved targeting of potential operative candidates.