Bilateral endoscopic craniectomies in the treatment of an infant with Apert syndrome

Case report

Restricted access

Patients with Apert syndrome commonly present with ocular proptosis due to bilateral coronal craniosynostosis and midfacial hypoplasia. Severe proptosis can cause visual compromise and damage, which is most commonly treated with bilateral orbital frontal advancement. The authors present the case of a patient who was treated at 8 weeks of age with endoscope-assisted bilateral coronal craniectomies followed by treatment with a custom-made postoperative cranial orthosis. The patient underwent the procedure without any complications. Over the ensuing months, the patient's proptosis corrected, the forehead and orbital rims advanced without the need for an orbital frontal advancement and craniotomies. This approach may provide an alternative treatment modality for these patients.

Article Information

Address correspondence to: David F. Jimenez, M.D., Department of Neurosurgery, The University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, MC 7843, San Antonio, Texas 78229. email: jimenezd3@uthscsa.edu.

Please include this information when citing this paper: published online August 24, 2012; DOI: 10.3171/2012.7.PEDS11281.

© AANS, except where prohibited by US copyright law.

Headings

Figures

  • View in gallery

    Top view of the patient before surgery, at 2 months of age, showing marked brachycephaly, shallow anterior cranial fossa, and significant orbital proptosis.

  • View in gallery

    Lateral view of the patient showing brachycephaly, frontal bone recession, and proptosis.

  • View in gallery

    Intraoperative photograph showing the location of the incisions, which measured approximately 1.5 cm and were located midway between the anterior fontanel and the pterion on each side.

  • View in gallery

    Lateral 3D CT scan obtained the day after surgery. The width of the osteotomy was 6 mm and extended from the anterior fontanel down to the squamosal bone behind the coronal suture and a linear osteotomy down to squamosal suture. Although not visualized on the 3D reconstruction, the linear osteotomy could be seen on the axial slices and was visually documented at the time of surgery. The arrow indicates the osteotomy site.

  • View in gallery

    Submental-vertex view of the patient with the cranial orthosis in place. Contact is made bitemporally while space is made in front of the frontal bones and orbits to allow for forward movement and internal advancement.

  • View in gallery

    Top view of the patient obtained 4 months after surgery, demonstrating advancement of the forehead and significant correction of the proptosis that was present prior to surgery.

  • View in gallery

    Left: Top view obtained at 6 months, showing persistent forehead rounding and an increased cephalic index. Right: Lateral view obtained at 6 months, showing advancement of the forehead and much less proptosis.

  • View in gallery

    Left: Top view obtained at 9 months after surgery, showing maintained correction of forehead symmetry. Right: Lateral view obtained at 9 months postoperatively, showing an advanced forehead and normally closing eyelids. The supraorbital rims have advanced in comparison with the preoperative photograph (Fig. 2).

  • View in gallery

    Artist's rendition. A: Preoperative top view showing brachycephaly and proptosis. B: Bilateral coronal osteotomies extending from the anterior fontanel to the squamosal sutures are done with endoscopic assistance. C: Postoperatively, the cranial molding orthosis places bilateral compression (horizontal arrows) while allowing for brain and cranial expansion in the anteroposterior direction (diagonal arrows). D: Proptosis correction, internal frontal bone advancement, and increase in cephalic index are achieved after orthotic therapy 10 months later. Printed with permission from David F. Jimenez, M.D.

  • View in gallery

    Three-dimensional sagittal (left) and axial (right) CT scans obtained at 9 months postoperatively, demonstrating that the osteotomies increased in width by 1.8 cm and that the volume of the anterior cranial vault has increased. Additionally, there is evidence of reossification and progressive closure of the osteotomies.

References

  • 1

    Antley RBixler D: Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser 11:3974011975

    • Search Google Scholar
    • Export Citation
  • 2

    Apert E: De L'acrocéphalosyndactylie. Bull Soc Med Paris 23:131013301906

  • 3

    Carpenter G: Two sisters showing malformations of the skull and other congenital abnormalities. Rep Soc Study Dis Child (London) 1:1101181901

    • Search Google Scholar
    • Export Citation
  • 4

    Chotzen F: Eine eigenartige familiäre Entwicklungsstörung. (Akrocephalosyndaktylie, Dysostosis Craniofacilalis und Hypertelorismus). Monatsschrift Kinderheilkd 55:971221932

    • Search Google Scholar
    • Export Citation
  • 5

    Crouzon O: Dysostose craniofaciale héréditaire. Bull Soc Med Paris 33:103710441912

  • 6

    Jimenez DFBarone CM: Multiple-suture nonsyndromic craniosynostosis: early and effective management using endoscopic techniques. Clinical article. J Neurosurg Pediatr 5:2232312010

    • Search Google Scholar
    • Export Citation
  • 7

    Pfeiffer RA: Associated deformities of the head and hands. Birth Defects Orig Artic Ser 5:18341969

  • 8

    Pfeiffer RA: Dominant erbliche akrocephalosyndaktylie. Z Kinderheilkd 90:3013201964

  • 9

    Saethre H: Ein Beitrag zum turmschädel problem (Pathogenese, Erblichkeit und Symptologie). Dtsch Z Nervenheilkd 17:5335551931

TrendMD

Metrics

Metrics

All Time Past Year Past 30 Days
Abstract Views 170 170 16
Full Text Views 79 79 0
PDF Downloads 205 205 0
EPUB Downloads 0 0 0

PubMed

Google Scholar