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Neuroimaging features of Cornelia de Lange syndrome

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Abstract

Background

Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented.

Objective

To present neuroimaging findings from a series of eight patients with Cornelia de Lange syndrome.

Materials and methods

The CT/MR database at a single academic children’s hospital was searched for the terms “Cornelia,” “Brachmann” and “de Lange.” The search yielded 18 exams from 16 patients. Two non-CNS and six exams without available images were excluded. Ten exams from eight patients were evaluated by a board-certified neuroradiologist.

Results

All patients had skull base dysplasia, most with an unusual coronal basioccipital cleft (7/8). All brain MR exams showed microcephaly, volume loss and gyral simplification (5/5). Six patients had an absent massa intermedia. Four patients had small globe anterior segments; three had optic pathway hypoplasia. Basilar artery fenestration was present in two patients; vertebrobasilar hypoplasia was present in one patient. The inner ear vestibules were dysplastic in two patients. One patient had pachymeningeal thickening. Spinal anomalies included scoliosis, segmentation anomalies, endplate irregularities, basilar invagination, foramen magnum stenosis and tethered spinal cord.

Conclusion

Typical imaging manifestations of Cornelia de Lange syndrome include skull base dysplasia with coronal clival cleft, cerebral and brainstem volume loss, and gyral simplification. Membranous labyrinth dysplasia, anterior segment and optic pathway hypoplasia, basilar artery fenestration, absent massa intermedia and spinal anomalies may also be present.

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Acknowledgments

This work was presented at the 57nd annual meeting of the SPR. Washington, D.C., May 2014.

Conflicts of interest

None

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Authors and Affiliations

  1. Department of Radiology, 111 Michigan Ave. NW, Washington, DC, 20010, USA

    Matthew T. Whitehead, Usha D. Nagaraj & Phillip L. Pearl

  2. Department of Radiology, Cincinnati Children’s Hospital, Cincinnati, OH, USA

    Usha D. Nagaraj

  3. Department of Neurology, Boston Children’s Hospital, Boston, MA, USA

    Phillip L. Pearl

Authors
  1. Matthew T. Whitehead
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  2. Usha D. Nagaraj
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  3. Phillip L. Pearl
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Correspondence to Matthew T. Whitehead.

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Whitehead, M.T., Nagaraj, U.D. & Pearl, P.L. Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol 45, 1198–1205 (2015). https://doi.org/10.1007/s00247-015-3300-5

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  • DOI: https://doi.org/10.1007/s00247-015-3300-5

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