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European Radiology

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Open Access 01-10-2012 | Neuro

Cervical high-intensity intramedullary lesions in achondroplasia: Aetiology, prevalence and clinical relevance

Authors: Patrick A. Brouwer, Charlotte M. Lubout, J. Marc van Dijk, Carmen L. Vleggeert-Lankamp

Published in: European Radiology | Issue 10/2012

Abstract

Objectives

In achondroplastic patients with slight complaints of medullary compression the cervical spinal cord regularly exhibits an intramedullary (CHII) lesion just below the craniocervical junction with no signs of focal compression on the cord. Currently, the prevalence of the lesion in the general achondroplastic population is studied and its origin is explored.

Methods

Eighteen achondroplastic volunteers with merely no clinical signs of medullary compression were subjected to dynamic magnetic resonance imaging (MRI). The presence of a CHII lesion and craniocervical medullary compression in flexed and retroflexed craniocervical positions was explored. Several morphological characteristics of the craniocervical junction, possibly related to compression on the cord, were assessed.

Results

A CHII lesion was observed in 39% of the subjects and in only one of these was compression at the craniocervical junction present. Consequently, no correlation between the CHII lesion and compression could be established. None of the morphological characteristics demonstrated a correlation with the CHII lesion, except thinning of the cord at the site of the CHII lesion.

Conclusions

CHII lesions are a frequent finding in achondroplasia, and are generally unaccompanied by clinical symptoms or compression on the cord. Further research focusing on the origin of CHII lesions and their clinical implications is warranted.

Key Points

• MRI now reveals exquisite detail of the cervical spinal cord.

• Cervical cord lesions are observed in one third of the achondroplastic population.

• These lesions yield high signal intensity on T2 weighted MRI.

• They are generally unaccompanied by clinical symptoms or cord compression.

• Their aetiology is unclear and seems to be unrelated to mechanical causes.

Oberklaid F, Danks DM, Jensen F, Stace L, Rosshandler S (1979) Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. J Med Genet 16:140–146PubMedCrossRef

Horton WA, Hall JG, Hecht JT (2007) Achondroplasia. Lancet 370:162–172PubMedCrossRef

Yamanaka Y, Ueda K, Seino Y, Tanaka H (2003) Molecular basis for the treatment of achondroplasia. Horm Res 60(Suppl 3):60–64PubMedCrossRef

Murdoch JL, Walker BA, Hall JG, Abbey H, Smith KK, McKusick VA (1970) Achondroplasia—a genetic and statistical survey. Ann Hum Genet 33:227–244PubMedCrossRef

Maroteaux P, Lamy M (1964) Achondroplasia in man and animals. Clin Orthop Relat Res 33:91–103PubMedCrossRef

Epstein JA, Malis LI (1955) Compression of spinal cord and cauda equina in achondroplastic dwarfs. Neurol 5:875–881CrossRef

van Dijk JM, Lubout CM, Brouwer PA (2007) Cervical high-intensity intramedullary lesions without spinal cord compression in achondroplasia. J Neurosurg Spine 6:304–308PubMedCrossRef

Casey AT, Bland JM, Crockard HA (1996) Development of a functional scoring system for rheumatoid arthritis patients with cervical myelopathy. Ann Rheum Dis 55:901–906PubMedCrossRef

Aydin S, Hanimoglu H, Tanriverdi T, Yentur E, Kaynar MY (2005) Chiari type I malformations in adults: a morphometric analysis of the posterior cranial fossa. Surg Neurol 64:237–241PubMedCrossRef

10.

Landis JR, Koch GG (1977) The measurement of observer agreement for categorical data. Biom 33:159–174

11.

Denic A, Bieber A, Warrington A, Mishra PK, Macura S, Rodriguez M (2009) Brainstem 1H nuclear magnetic resonance (NMR) spectroscopy: marker of demyelination and repair in spinal cord. Ann Neurol 66:559–564PubMedCrossRef

12.

Rimoin DL (1995) Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet 56:824–827PubMed

13.

Bruhl K, Stoeter P, Wietek B, Schwarz M, Humpl T, Schumacher R et al (2001) 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 160:10–20PubMedCrossRef

14.

Hecht JT, Francomano CA, Horton WA, Annegers JF (1987) Mortality in achondroplasia. Am J Hum Genet 41:454–464PubMed

15.

Pauli RM, Scott CI, Wassman ER Jr, Gilbert EF, Leavitt LA, Ver Hoeve J et al (1984) Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr 104:342–348PubMedCrossRef

16.

Bagley CA, Pindrik JA, Bookland MJ, Camara-Quintana JQ, Carson BS (2006) Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurg 104(3 Suppl):166–172PubMed

17.

Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL (2007) Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. J Neurosurg 107(6 Suppl):504–507PubMed

18.

Ottonello G, Villa G, Moscatelli A, Diana MC, Pavanello M (2007) Noninvasive ventilation in a child affected by achondroplasia respiratory difficulty syndrome. Paediatr Anaesth 17:75–79PubMedCrossRef

19.

Collins WO, Choi SS (2007) Otolaryngologic manifestations of achondroplasia. Arch Otolaryng Head Neck Surg 133:237–244PubMedCrossRef

20.

Pauli RM, Horton VK, Glinski LP, Reiser CA (1995) Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 56:732–744PubMed

21.

Smoker WR, Khanna G (2008) Imaging the craniocervical junction. Childs Nerv Syst 24:1123–1145PubMedCrossRef

22.

Khanna G, Sato Y (2005) Imaging of the craniovertebral junction. Oper Techn Neurosurg 8:131–142CrossRef

Title: Cervical high-intensity intramedullary lesions in achondroplasia: Aetiology, prevalence and clinical relevance
Authors: Patrick A. Brouwer
Charlotte M. Lubout
J. Marc van Dijk
Carmen L. Vleggeert-Lankamp
Publication date: 01-10-2012
Publisher: Springer-Verlag
Published in: European Radiology / Issue 10/2012
Print ISSN: 0938-7994
Electronic ISSN: 1432-1084
DOI: https://doi.org/10.1007/s00330-012-2488-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Cervical high-intensity intramedullary lesions in achondroplasia: Aetiology, prevalence and clinical relevance

Abstract

Objectives

Methods

Results

Conclusions

Key Points

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Objectives

Methods

Results

Conclusions

Key Points

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