Subscribe to RSS
DOI: 10.1055/s-2005-836464
© Georg Thieme Verlag Stuttgart · New York
Diagnostik der zervikalen Myelopathie bei einem Neugeborenen mit Achondroplasie
Cervical Myelopathy in a Newborn with AchondroplasiaPublication History
Publication Date:
20 May 2005 (online)
![](https://www.thieme-connect.de/media/klinpaed/200602/lookinside/thumbnails/10.1055-s-2005-836464-1.jpg)
Zusammenfassung
Hintergrund: Patienten mit Achondroplasie haben ein deutlich erhöhtes Risiko für Apnoen bei zervikaler Myelopathie. Die Indikation zur operativen okzipitalen Dekompression kann aber nicht immer allein anhand der Magnetresonanztomographie (MRT) gestellt werden, da häufig Signalalterationen und ossäre Kompressionen des kranio-zervikalen Übergangs ohne funktionelle Relevanz bestehen. Fallbericht: Bei einem reifen männlichen Neugeborenen mit Achondroplasie traten ab dem ersten Lebenstag immer wieder einzelne, teilweise mit Maskenbeatmung behandlungsbedürftige Apnoen auf. Nach Ausschluss anderer Ursachen zeigte ein MRT von Schädel und Halswirbelsäule eine Einengung des Foramen magnum bei relativ engem oberen Zervikalkanal. Signalalterationen von Hirnstamm oder Zervikalmark bestanden nicht. Somato-sensibel evozierte Potenziale (SSEP) des N. medianus ergaben gut ableitbare Potenziale am Erb'schen Punkt beidseits. Kortikal fanden sich bei linksseitiger Stimulation nur stark deformierte und bei rechtsseitiger Stimulation keine ableitbaren Potenziale. Daraufhin erfolgte die operative Dekompression des kraniozervikalen Übergangs, wonach das Kind beschwerdefrei war. Die Nachuntersuchung ergab sowohl im MRT als auch neurophysiologisch eine deutliche Besserung. Schlussfolgerung: Die Ableitung von SSEP kann bei Neugeborenen mit Achondroplasie die funktionelle Relevanz von im MRT nachgewiesenen ossären Kompressionen des kranio-zervikalen Übergangs sichern und die Indikationsstellung zur Operation erleichtern.
Abstract
Background: Patients with achondroplasia have an increased risk of apnoea due to cervical myelopathy. The indication for operative decompression can not be made by MRI alone, because signal alteration and osseous compression of the cervico-medullary region without functional relevance are frequent in this disease. Case report: We report on a male new-born with achondroplasia who displayed apnoeas from the first day of life. Two times, mask ventilation had to be performed. After exclusion of other diseases potentially causing apnoeas, an MRI of the skull and cervical spine revealed cervico-medullary compression due to foramen magnum stenosis, but no signal alterations of brain stem and cervical mark. Recording of somato-sensory evoked potentials (SSEP) of the median nerve showed normal potentials at Erb's point. By contrast, cortical potentials were distinctly abnormal during left-sided stimulation and could not be recorded during right-sided stimulation. Based on these findings, operative decompression of the craniocervical region was performed which led immediately to complete remission of clinical symptoms. At follow-up, MRI revealed a normal width of the foramen magnum and SSEP were markedly improved. Conclusion: In new-borns with Achondroplasia, SSEP can confirm the functional relevance of osseous compression of the cervico-medullary region, and facilitate the decision for operative decompression.
Schlüsselwörter
Achondroplasie - zervikale Myelopathie - MRT - SSEP - kranio-zervikale Dekompression
Key words
achondroplasia - cervical myelopathy - MRI - somato-sensory evoked potentials - craniocervical decompression
Literatur
- 1 Aryanpur J, Hurko O, Francomano C, Wang H, Carson B. Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia. J Neurosurg. 1990; 73 375-383
- 2 Boor R, Fricke G, Brühl K, Spranger J. Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. Eur J Pediatr. 1999; 158 662-667
- 3 Brühl K, Stoeter P, Wietek B, Schwarz M, Humpl T, Schumacher R, Spranger J. Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction. Eur J Pediatr. 2001; 160 10-20
- 4 Fagan E R, Taylor M J, Logan W J. Somatosensory evoked potentials: Part II. A review of the clinical applications in pediatric neurology. Pediatr Neurol. 1987; 3 249-255
- 5 Gordon N. The neurological complications of achondroplasia. Brain Dev. 2000; 22 3-7
- 6 Hecht J T, Francomano C A, Horton W A. et al . Mortality in achondroplasia. Am J Hum Genet. 1987; 41 454-464
- 7 Hecht J T, Neslon F W, Butler I J. et al . Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards. Am J Med Genet. 1985; 20 355-360
- 8 Keiper G -L, Koch B, Crone K R. Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg. 1999; 31 78-83
- 9 Moskowitz N, Carson B, Kopits S, Levitt R, Hart G. Foramen magnum decompression in an infant with homozygous achondroplasia. Case report. J Neurosurg. 1989; 70 126-128
- 10 Najjar J A, Peitesen S E, Carter L P. Craniocervical stenosis and apnea spells in a 2-month-old baby with achondroplasia. J Child Neurol. 1995; 10 484-486
- 11 Pauli R M, Scott C I, Wassman E R, Gilbert E F, Leavitt L A, Ver H, Hall J G, Partington M W, Jones K L, Sommer A. et al . Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr. 1984; 104 342-348
- 12 Pauli R M, Horton V K, Glinski L P, Reiser C A. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet. 1995; 56 732-744
- 13 Reid C S, Pyeritz R E, Kopits S E, Maria B L, Wang H, McPherson R W, Hurko O, Phillips J A, Rosenbaum A E. Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. J Pediatr. 1987; 110 522-530
- 14 Rimoin D L. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet. 1995; 56 824-827
- 15 Ruiz-Garcia M, Tovar-Baudin A, Del Castillo-Ruiz V, Rodriguez H P, Collado M A, Mora T MA, Rueda-Franco F, Gonzales-Astiazaran A. Early detection of neurological manifestations in achondroplasia. Child's Nerv Syst. 1997; 13 208-213
- 16 Ryken T C, Menezes A H. Cervicomedullary compression in achondroplasia. J Neurosurg. 1994; 81 43-48
- 17 Utzig N, Burtzlaff C, Wiersbitzky H, Lauffer H. Evoked potentials in Chiari-malformation type I with syringomyelia - a case history. Klin Pädiatr. 2003; 215 241-243
- 18 Zucconi M, Weber G, Castronovo V, Ferini-Strambi L, Russo F, Chiumello G, Smirne S. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr. 1996; 129 743-749
Dr. Andreas Hahn
Abteilung für Neuropädiatrie · Zentrum für Kinderheilkunde und Jugendmedizin der Justus-Liebig-Universität
Feulgenstr. 12
35385 Gießen
Phone: 06 41/9 94 34 81
Fax: 06 41/9 94 34 89
Email: Andreas.Hahn@paediat.med.uni-giessen.de