Basilar invagination in a child with atlanto-occipital subluxation and suspected prenatal Dandy–Walker malformation

  • Isamu Miura
  • Yasuo AiharaEmail author
  • Tetsuryu Mitsuyama
  • Kentaro Chiba
  • Hiroshi Nakano
  • Takakazu Kawamata
Case Report


Background and purpose

Although advances in imaging have allowed earlier and more accurate diagnosis of various fetal anomalies, Dandy–Walker malformation (DWM) remains one of the more challenging central nervous system anomalies to diagnose accurately before birth. Basilar invagination (BI), which is a dislocation of the dens in an upward direction, is occasionally accompanied by Klippel–Feil syndrome (KFS). We report a pediatric case of BI caused by atlanto-occipital subluxation (AOS) in KFS, suspected of having DWM prenatally but head magnetic resonance images (MRI) showed no evidence of that at 7 months of age.


At 28 weeks of gestation, fetal MRI study revealed a small cerebellar vermis, leading us to suspect a DWM. The patient was born at 40 weeks of gestation. Head CT showed inferior vermian hypoplasia without findings of hydrocephalus. Cervicothoracic CT showed cervical lamina assimilations, thoracic hemivertebrae, and cervicothoracic scoliosis. He was diagnosed with Dandy–Walker variant and KFS. At 7 months of age, head MRI showed near normal cerebellum and vermis and there was no evidence of the DWM. He did not have intellectual or developmental delay and imaging studies were performed periodically. At 9 years of age, an already existing cough headache deteriorated. Three-dimensional reconstructed images from CT scan showed C1 hypoplasia, fusion of C1 and C2, BI, and AOS. Sagittal T2-weighted MRI showed protrusion of cerebellar tonsils inferiorly to the level of the posterior arch of C2. Serum calcium, phosphate, and parathyroid hormone levels were normal. The diagnosis was tonsillar herniation related to BI following AOS in KFS. Posterior occipitocervical fixation was performed under traction.


We found out two important clinical issues: DWM findings after birth can be disappearing and BI can present sequential deterioration because of AOS in KFS. Our observation indicated the possible prognosis of pediatric BI with long follow-up and can help us decide on its surgical treatment timing when associated with AOS.


Dandy–Walker malformation Basilar invagination Klippel–Feil syndrome Atlanto-occipital subluxation 



We thank Motoo Kubota, Department of Spinal Surgery, Kameda Medical Center, for his guidance and we gratefully acknowledge the radiological technologists, nurses, and staff of the Departments of Neurosurgery, Tokyo Women’s Medical University in preparing this paper.

Declaration of funding source

This study was supported by research funds of the Department of Neurosurgery, Tokyo Women’s Medical University.

Compliance with ethical standards

Conflict of interest

The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.


  1. 1.
    Hirsch JF, Pierre-Kahn A, Renier D, Sainte-Rose C, Hoppe-Hirsch E (1984) The Dandy-Walker malformation. A review of 40 cases. J Neurosurg 61:515–522CrossRefGoogle Scholar
  2. 2.
    Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F (2003) Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst 19:484–489CrossRefGoogle Scholar
  3. 3.
    Tsao K, Chuang NA, Filly RA, Barkovich AJ, Goldstein RB (2002) Entrapped fourth ventricle: another pitfall in the prenatal diagnosis of Dandy-Walker malformations. J Ultrasound Med 21:91–96CrossRefGoogle Scholar
  4. 4.
    Ogihara N, Takahashi J, Hirabayashi H, Mukaiyama K, Kato H (2013) Surgical treatment of Klippel-Feil syndrome with basilar invagination. Eur Spine J 22(Suppl 3):S380–S387CrossRefGoogle Scholar
  5. 5.
    Dokai T, Nagashima H, Nanjo Y, Tanida A, Teshima R (2011) Posterior occipitocervical fixation under skull-femoral traction for the treatment of basilar impression in a child with Klippel-Feil syndrome. J Bone Joint Surg (Br) 93:1571–1574CrossRefGoogle Scholar
  6. 6.
    Hart MN, Malamud N, Ellis WG (1972) The Dandy-Walker syndrome. A clinicopathological study based on 28 cases. Neurology 22:771–780CrossRefGoogle Scholar
  7. 7.
    Ecker JL, Shipp TD, Bromley B, Benacerraf B (2000) The sonographic diagnosis of Dandy-Walker and Dandy-Walker variant: associated findings and outcomes. Prenat Diagn 20:328–332CrossRefGoogle Scholar
  8. 8.
    Menezes AH, VanGilder JC (1988) Transoral-transpharyngeal approach to the anterior craniocervical junction. Ten-year experience with 72 patients. J Neurosurg 69:895–903CrossRefGoogle Scholar
  9. 9.
    Simsek S, Yigitkanli K, Belen D, Bavbek M (2006) Halo traction in basilar invagination: technical case report. Surg Neurol 66:311–314 discussion 314CrossRefGoogle Scholar
  10. 10.
    Miyoshi Y, Yasuhara T, Date I (2011) Noonan syndrome with occipito-atlantal dislocation and upper cervical cord compression due to C1 dysplasia and basilar invagination. Neurol Med Chir (Tokyo) 51:463–466CrossRefGoogle Scholar
  11. 11.
    Abumi K, Takada T, Shono Y, Kaneda K, Fujiya M (1999) Posterior occipitocervical reconstruction using cervical pedicle screws and plate-rod systems. Spine (Phila Pa 1976) 24:1425–1434CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of NeurosurgeryTokyo Women’s Medical UniversityTokyoJapan

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