title: Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia.
abstract: Children with achondroplasia may have high cervical myelopathy due to stenosis of the cranio-cervical junction resulting in neurological disability and an increased rate of sudden death. To detect myelopathy we recorded somatosensory evoked potentials (SEPs) after median nerve stimulation in 30 patients with achondroplasia aged 13 months to 18 years (mean 6 years). In addition to the conventional technique of recording the cortical N20 and the central conduction time (CCT), we employed a noncephalic reference electrode recording the subcortical waveforms N13b and P13. generated near the cranio-cervical junction. The findings were related to the clinical status and MRI results. Eighteen patients had MRI evidence of spinal cord compression with indentation or narrowing of the upper cervical cord, and 13 showed signs of myelomalacia. Seven patients had neurological abnormalities. The sensitivities of the SEPs were 0.89 for cervical cord compression, 0.92 for myelomalacia and 1.0 for the clinically symptomatic patients. There were no false-positive results. The subcortical SEPs were more sensitive than the conventional recordings. However, the conventional SEPs were highly specific in the most severely affected patients; here the specificity was 1.0 for patients with myelomalacia and 0.96 for symptomatic patients. Postoperative SEPs improved after occipital decompression in two children.
  
  
  CONCLUSIONS
  The analysis of somatosensory evoked potentials, in particular of subcortical tracings, is useful in the detection of early cervical myelopathy in children with achondroplasia. Early neurosurgical decompression may prevent irreversible damage.
authors.affiliation: Paediatric Neurology, University Children's Hospital, Johannes-Gutenberg University, Mainz, Germany. boor@kinder.klinik.uni-mainz.de
authors.forename: R
authors.initials: R
authors.lastname: Boor
authors.forename: G
authors.initials: G
authors.lastname: Fricke
authors.forename: K
authors.initials: K
authors.lastname: Brühl
authors.forename: J
authors.initials: J
authors.lastname: Spranger
mesh_terms: D000130:Achondroplasia / Q000503:physiopathology*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005073:Evoked Potentials, Somatosensory; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013117:Spinal Cord Compression / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology