Abstract：
BACKGROUND: Progression of scoliosis following completion of growth, and the combination of low mental retardation and the conspicuous sagittal clinical and radiographic abnormalities suggest a secondary genesis of the scoliosis according to a genetic aberration.
METHODS: In the outpatient department, an 18-year-old woman presents with scoliosis and mild mental retardation. Radiography findings demonstrate a sacral agenesis and then consecutively performed magnetic resonance imaging on a conus depression. Because of the symptom constellation, a genetic syndrome was suspected. Genetic diagnostics revealed a trisomy 19q and monosomy 7q. Typically, deletions of the subtelomere 7q show a phenotype with growth retardation, facial anomalies, and intellectual deficit; trisomy of the subtelomere 19q shows growth retardation, atypical ears, short neck, and intellectual deficit with delayed development. The further clinical radiologic and neurologic examination showed no evidence of a tethered cord syndrome. The correction of scoliosis was performed under intraoperative neurophysiological monitoring without neurologic complications.
CONCLUSIONS: In the presence of dysplastic sacral changes and accompanying elongated conus medullaris in patients with scoliosis, it is always necessary to think of rare chromosome aberrations and to initiate appropriate diagnostics before surgery. The intraoperative neurophysiological monitoring is strongly recommended, owing to a morphologically, and not fully-excludable, tethered cord syndrome.
METHODS: In the outpatient department, an 18-year-old woman presents with scoliosis and mild mental retardation. Radiography findings demonstrate a sacral agenesis and then consecutively performed magnetic resonance imaging on a conus depression. Because of the symptom constellation, a genetic syndrome was suspected. Genetic diagnostics revealed a trisomy 19q and monosomy 7q. Typically, deletions of the subtelomere 7q show a phenotype with growth retardation, facial anomalies, and intellectual deficit; trisomy of the subtelomere 19q shows growth retardation, atypical ears, short neck, and intellectual deficit with delayed development. The further clinical radiologic and neurologic examination showed no evidence of a tethered cord syndrome. The correction of scoliosis was performed under intraoperative neurophysiological monitoring without neurologic complications.
CONCLUSIONS: In the presence of dysplastic sacral changes and accompanying elongated conus medullaris in patients with scoliosis, it is always necessary to think of rare chromosome aberrations and to initiate appropriate diagnostics before surgery. The intraoperative neurophysiological monitoring is strongly recommended, owing to a morphologically, and not fully-excludable, tethered cord syndrome.
摘要：
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