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Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature

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Abstract

Introduction

Tectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbidity and high infant mortality. The presence of other ciliopathies worsens the prognosis. Joubert syndrome (JS) is a ciliopathy associated with gene mutations, consisting of midbrain and cerebellum malformations, markedly lack fiber decussation at the level of the pontomesencephalic junction.

Case report

We report the case of a child who was born term with occipital encephalocele (OE), diagnosed with TCD and JS spectrum through computed tomography (CT), magnetic resonance (MR), diffuse tensor imaging (DTI), and clinical findings. She had the OE surgically corrected after spontaneous rupture on the second day after delivery. She developed postoperative ventriculitis, meningitis, and hydrocephalus, successfully treated with intravenous antibiotics and cysto-ventriculostomy, cysto-cisternostomy, third ventriculostomy, and choroid plexus coagulation. G-band karyotyping showed 47, XXX, in all analyzed cells (trisomy X). The infant was followed up for 18 months, presenting, so far, a relatively good outcome.

Conclusion

This is the first case reported in the literature of the association of TCD/OE/JS spectrum (JSS) with trisomy X (XXX).

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Data availability

All the data reported in this manuscript, including imaging studies and the G-band karyotyping, are available upon reasonable request from the corresponding author (OVF). These data are not publicly available due to the risk of compromising the patient privacy.

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Acknowledgments

The authors would like to express their gratitude to the colleagues Rômulo A. S. Marques, MD; Paulo Ronaldo J. Ribeiro, MD, MSc; Juliana C. N. Peixoto, MD; and Fernanda A. O. Peixoto, MD, PhD for their help in the treatment of the child reported in this manuscript. The study was performed with the resources available on an everyday basis in the Division of Neurosurgery, Medical School, Federal University of Goiás.

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Authors and Affiliations

  1. Division of Neurosurgery, Department of Surgery, Medical School, Federal University of Goiás, 1a Avenida, S/N – Setor Leste Universitário, Goiânia, Goiás, Brazil

    Lissa C. Goulart & Osvaldo Vilela-Filho

  2. Department of Radiology, Medical School, Federal University of Goiás, Goiânia, Goiás, Brazil

    Luiz A. Ferreira-Filho, Mariana M. da Silva & Israel S. B. Carneiro

  3. Department of Pathology, Medical School, Federal University of Goiás, Goiânia, Goiás, Brazil

    Siderley S. Carneiro

Authors
  1. Lissa C. Goulart
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  2. Luiz A. Ferreira-Filho
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  3. Mariana M. da Silva
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  4. Israel S. B. Carneiro
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  5. Siderley S. Carneiro
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  6. Osvaldo Vilela-Filho
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by all authors. The first draft was written by all authors and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Osvaldo Vilela-Filho.

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Goulart, L.C., Ferreira-Filho, L.A., da Silva, M.M. et al. Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature. Childs Nerv Syst 37, 3257–3260 (2021). https://doi.org/10.1007/s00381-020-04989-6

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  • DOI: https://doi.org/10.1007/s00381-020-04989-6

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