Clinical signs, interventions, and treatment course of three different treatment protocols in patients with Crouzon syndrome with acanthosis nigricans

Catherine A. De Planque*, Steven A. Wall, Louise Dalton, Giovanna Paternoster, Éric Arnaud, Marie Lise C. Van Veelen, Sarah L. Versnel, David Johnson, Jayaratnam Jayamohan, Irene M.J. Mathijssen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)

Abstract

OBJECTIVE Crouzon syndrome with acanthosis nigricans (CAN) is a rare and clinically complex subtype of Crouzon
syndrome. At three craniofacial centers, this multicenter study was undertaken to assess clinical signs in relation to the
required interventions and treatment course in patients with CAN.
METHODS A retrospective cohort study of CAN was performed to obtain information about the clinical treatment course
of these patients. Three centers participated: Erasmus Medical Centre, Rotterdam, the Netherlands; John Radcliffe
Hospital, Oxford, United Kingdom; and Hôpital Necker-Enfants Malades, Paris, France.
RESULTS Nineteen patients (5 males, 14 females) were included in the study. All children were operated on, with a
mean of 2.2 surgeries per patient (range 1–6). Overall, the following procedures were performed: 23 vault expansions,
10 monobloc corrections, 6 midface surgeries, 11 foramen magnum decompressions, 29 CSF-diverting surgeries, 23
shunt-related interventions, and 6 endoscopic third ventriculostomies, 3 of which subsequently required a shunt.
CONCLUSIONS This study demonstrates that patients with the mutation c.1172C>A (p.Ala391Glu) in the FGFR3 gene
have a severe disease trajectory, requiring multiple surgical procedures. The timing and order of interventions have
changed among patients and centers. It was not possible to differentiate the effect of a more severe clinical presentation
from the effect of treatment order on outcome.
https://thejns.org/doi/abs/10.3171/2021.2.PEDS20933
Original languageEnglish
Pages (from-to)425-431
Number of pages7
JournalJournal of Neurosurgery: Pediatrics
Volume28
Issue number4
Early online date13 Aug 2021
DOIs
Publication statusPublished - Oct 2021

Bibliographical note

Funding Information:
Research of C.A.P. was supported by Sophia Stichting Weten-schappelijk Onderzoek (project number: B-16-03a); they had no involvement in any aspect of the study.

Publisher Copyright:
© 2021 American Association of Neurological Surgeons. All rights reserved.

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