TY - JOUR
T1 - Neurological deficits are present in syndromic craniosynostosis patients with and without tonsillar herniation
AU - Doerga, P N
AU - Rijken, B F M
AU - Bredero-Boelhouwer, H
AU - Joosten, K F M
AU - Neuteboom, R F
AU - Tasker, R C
AU - Dremmen, M H G
AU - Lequin, M H
AU - van Veelen, M L C
AU - Mathijssen, I M J
N1 - Funding Information:
This study was funded by financial support provided by Stichting Hoofdzaak ; they had no involvement in any aspect of the study.
Publisher Copyright:
© 2020
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/9
Y1 - 2020/9
N2 - BACKGROUND: Children with syndromic craniosynostosis (sCS) have a higher incidence of cerebellar tonsillar herniation (TH) than the general population. In the general population, TH ≥ 5 mm below the foramen magnum is associated with typical neurological deficits but, in sCS, we do not know whether this degree of TH is required before such deficits occur.OBJECTIVE: This prospective cohort study aimed to determine the association between findings on neurological assessment and cerebellar tonsillar position.METHODS: Magnetic resonance imaging (MRI) was used to determine TH ≥ 5 mm and the presence of syringomyelia. In regard to the outcome of neurological deficits, these were categorized according to: A, cerebellar function; B, cranial nerve abnormalities; and C, sensory or motor dysfunction.RESULTS: Twenty of 63 patients with sCS (32% [95% confidence interval 21-45%]) had TH ≥ 5 mm and/or syringomyelia. There was no significant difference in proportion between individual forms of sCS: 16/34 Crouzon, 2/11 Muenke, 2/12 Apert, and 0/7 Saethre-Chotzen patients. Neurological deficits were prevalent (73% [95% confidence interval 60-83%]), and as frequent in patients with TH ≥ 5 mm and/or syringomyelia as those without. Surgery occurred in 3 patients overall, and only in Crouzon patients.CONCLUSION: Determining the effect of TH ≥ 5 mm on neurologic functioning in sCS patients is used to better determine when surgical intervention is warranted. However, we have found that neurological deficits are prevalent in sCS patients, irrespective of cerebellar tonsillar position, suggesting that such findings are developmental and, in part, syndrome-specific central nervous system features.
AB - BACKGROUND: Children with syndromic craniosynostosis (sCS) have a higher incidence of cerebellar tonsillar herniation (TH) than the general population. In the general population, TH ≥ 5 mm below the foramen magnum is associated with typical neurological deficits but, in sCS, we do not know whether this degree of TH is required before such deficits occur.OBJECTIVE: This prospective cohort study aimed to determine the association between findings on neurological assessment and cerebellar tonsillar position.METHODS: Magnetic resonance imaging (MRI) was used to determine TH ≥ 5 mm and the presence of syringomyelia. In regard to the outcome of neurological deficits, these were categorized according to: A, cerebellar function; B, cranial nerve abnormalities; and C, sensory or motor dysfunction.RESULTS: Twenty of 63 patients with sCS (32% [95% confidence interval 21-45%]) had TH ≥ 5 mm and/or syringomyelia. There was no significant difference in proportion between individual forms of sCS: 16/34 Crouzon, 2/11 Muenke, 2/12 Apert, and 0/7 Saethre-Chotzen patients. Neurological deficits were prevalent (73% [95% confidence interval 60-83%]), and as frequent in patients with TH ≥ 5 mm and/or syringomyelia as those without. Surgery occurred in 3 patients overall, and only in Crouzon patients.CONCLUSION: Determining the effect of TH ≥ 5 mm on neurologic functioning in sCS patients is used to better determine when surgical intervention is warranted. However, we have found that neurological deficits are prevalent in sCS patients, irrespective of cerebellar tonsillar position, suggesting that such findings are developmental and, in part, syndrome-specific central nervous system features.
KW - Syndromic craniosynostosis
KW - Neurology
KW - Cerebellar tonsillar herniation
KW - Syringomyelia
UR - http://www.scopus.com/inward/record.url?scp=85089259192&partnerID=8YFLogxK
U2 - 10.1016/j.ejpn.2020.06.018
DO - 10.1016/j.ejpn.2020.06.018
M3 - Article
C2 - 32782184
SN - 1090-3798
VL - 28
SP - 120
EP - 125
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
ER -