Elongated conus medullaris, sacral agenesis and scoliosis- a case report of a patient with trisomy 19q and monosomy 7q.

BACKGROUND: Both progression of scoliosis following completion of growth, and the combination of low mental retardationand the conspicuous sagittal clinical and radiographic abnormalities suggest a secondary genesis of the scoliosis according to a genetic aberration.

CASE DISCRIPTION: In the outpatient department, an 18-year-old girl presents with scoliosis and mild mental retardation. Radiography findings demonstrate a sacral agenesis and the consecutively performed MRI a conus depression. Due to the symptom constellation, a genetic syndrome was suspected. Genetic diagnostics revealed a trisomy 19q and monosomy 7q. Usually, deletions of the subtelomer 7q show a phenotype with growth retardation, facial anomalies and intellectual deficit, trisomy of the subtelomer 19q growth retardation, atypical ears, short neck and intellectual deficit with delayed development. The further clinical radiological and neurological examination showed no evidence of a tethered cord syndrome. The correction of scoliosis was carried out 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, due to a morphologically not fully-excludable tethered cord syndrome.