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Expanding the spectrum of congenital anomalies of the diencephalic–mesencephalic junction

  • Paediatric Neuroradiology
  • Published:
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Abstract

Introduction

We aimed to describe the clinico-radiological findings of patients with disorders of diencephalic–mesencephalic junction (DMJ) formation and midbrain anteroposterior patterning.

Methods

We reviewed the DMJ anatomy of 445 patients with brain malformations. Associated supra/infratentorial abnormalities and clinical findings were noted. Craniocaudal and anteroposterior diameters of midbrain, pons, medulla, vermis, and transverse cerebellar diameter were compared with age-matched controls. Post hoc tests were corrected according to Bonferroni (p B).

Results

Two patterns of DMJ anomaly were identified in 12 patients (7 females, mean age 41 months). Type A was characterized by hypothalamic–mesencephalic fusion on axial plane, with possible midbrain ventral cleft (7 patients). Anteroposterior (p B = .006) and craniocaudal (p B = .027) diameters of the pons, craniocaudal diameter of the vermis (p B = .015), and transverse cerebellar diameter (p B = .011) were smaller than the controls. Corticospinal tract, basal ganglia, and commissural anomalies were also associated. Clinical findings included spastic-dystonic tetraparesis, hypothalamic dysfunction, epilepsy, and severe developmental delay. Type B was characterized by incomplete thalamic–mesencephalic cleavage on sagittal plane, with parenchymal bands connecting the interthalamic adhesion with the midbrain (five patients). Anteroposterior diameters of midbrain (p B = .002), pons (p B = .0004), and medulla (p B = .002) as well as the vermian anteroposterior (p B = .040) and craniocaudal diameters (p B = .014) were smaller than the controls. These patients were less neurologically impaired, most presenting mild developmental delay.

Conclusions

The spectrum of DMJ patterning defects is wide and may be associated with several brain malformations. Infratentorial brain structures should be carefully evaluated to better define the type of associated midbrain–hindbrain anomalies.

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Acknowledgments

We are grateful to the patients and families for participating in the study. We thank Claudia Mancini for MRI technical support and Serena Stornello for nursing assistance.

Author information

Authors and Affiliations

  1. Neuroradiology Unit, Istituto Giannina Gaslini, via Gaslini 5, 16147, Genova, Italy

    Mariasavina Severino, Domenico Tortora & Andrea Rossi

  2. Epidemiology and Biostatistics Unit, Istituto Giannina Gaslini, Genoa, Italy

    Angela Pistorio

  3. Neonatal Intensive Care Unit, Istituto Giannina Gaslini, Genoa, Italy

    Luca Antonio Ramenghi

  4. Endocrinology Unit, Istituto Giannina Gaslini, Genoa, Italy

    Flavia Napoli

  5. Neuropsychiatry Unit, Istituto Giannina Gaslini, Genoa, Italy

    Maria Margherita Mancardi

  6. Paediatric Neurology and Muscular Diseases Unit, Istituto Giannina Gaslini, Genoa, Italy

    Pasquale Striano

  7. Genetic Unit, Istituto Giannina Gaslini, Genoa, Italy

    Valeria Capra

Authors
  1. Mariasavina Severino
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  2. Domenico Tortora
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  9. Andrea Rossi
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Corresponding author

Correspondence to Mariasavina Severino.

Ethics declarations

We declare that this human study has been approved by our Institutional Review Board and has therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. Due to the retrospective nature of this study, patient consent was waived.

Conflict of interest

We declare that we have no conflict of interest.

Electronic supplementary material

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On-line Resource 1: Table 2

Neuroradiological findings of patients with diencephalic-mesencephalic junction abnormalities (PDF 81.6 kb)

On-line Resource 2

Scatterplots of MH measurements for age categories in patients with DMJ anomalies at last MRI examination and 417 healthy controls. Anteroposterior (AP) diameter of the midbrain (A), pons (B), medulla (C), midbrain to pons (M/P) ratio of AP diameters (D), cranio-caudal (CC) diameter of the midbrain (E), pons (F), medulla (G), midbrain to pons (M/P) ratio of CC diameters (H), CC diameter of the vermis (I), vermian AP diameter (L), transverse cerebellar diameter (M) are shown. (PDF 145 kb)

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Severino, M., Tortora, D., Pistorio, A. et al. Expanding the spectrum of congenital anomalies of the diencephalic–mesencephalic junction. Neuroradiology 58, 33–44 (2016). https://doi.org/10.1007/s00234-015-1601-x

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  • DOI: https://doi.org/10.1007/s00234-015-1601-x

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