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Rhinencephalon changes in tuberous sclerosis complex

  • Paediatric Neuroradiology
  • Published:
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Abstract

Purpose

Despite complex olfactory bulb embryogenesis, its development abnormalities in tuberous sclerosis complex (TSC) have been poorly investigated.

Methods

Brain MRIs of 110 TSC patients (mean age 11.5 years; age range 0.5–38 years; 52 female; 26 TSC1, 68 TSC2, 8 without mutation identified in TSC1 or TSC2, 8 not tested) were retrospectively evaluated. Signal and morphological abnormalities consistent with olfactory bulb hypo/aplasia or with olfactory bulb hamartomas were recorded. Cortical tuber number was visually assessed and a neurological severity score was obtained. Patients with and without rhinencephalon abnormalities were compared using appropriate parametric and non-parametric tests.

Results

Eight of110 (7.2%) TSC patients presented rhinencephalon MRI changes encompassing olfactory bulb bilateral aplasia (2/110), bilateral hypoplasia (2/110), unilateral hypoplasia (1/110), unilateral hamartoma (2/110), and bilateral hamartomas (1/110); olfactory bulb hypo/aplasia always displayed ipsilateral olfactory sulcus hypoplasia, while no TSC patient harboring rhinencephalon hamartomas had concomitant forebrain sulcation abnormalities. None of the patients showed overt olfactory deficits or hypogonadism, though young age and poor compliance hampered a proper evaluation in most cases. TSC patients with rhinencephalon changes had more cortical tubers (47 ± 29.1 vs 26.2 ± 19.6; p = 0.006) but did not differ for clinical severity (p = 0.45) compared to the other patients of the sample.

Conclusions

Olfactory bulb and/or forebrain changes are not rare among TSC subjects. Future studies investigating clinical consequences in older subjects (anosmia, gonadic development etc.) will define whether rhinencephalon changes are simply an imaging feature among the constellation of TSC-related brain changes or a feature to be searched for possible implications in the management of TSC subjects.

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Author information

Author notes

  1. RM and DM contributed equally to this study and share first authorship.

    AV and IT contributed equally to this study and share senior authorship

Authors and Affiliations

  1. Neuroradiology, Department of Medicine and Surgery, Sezione di Neuroscienze, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy

    Renzo Manara

  2. Otolaryngology Unit, Department of Neuroscience, University Hospital of Padova, Padova, PD, Italy

    Davide Brotto

  3. Pediatric Neurology and Neurophysiology Unit, Department of Woman and Child Health, University Hospital of Padova, Padova, PD, Italy

    Samuela Bugin, Maria Federica Pelizza, Stefano Sartori, Margherita Nosadini & Irene Toldo

  4. Pediatric Endocrinology Unit, Department of Woman and Child Health, University Hospital of Padova, Padova, PD, Italy

    Sara Azzolini

  5. Neurosurgery, School of Medicine “Scuola Medica Salernitana”, University of Salerno, Fisciano, SA, Italy

    Giorgio Iaconetta

  6. Department of Pediatric Radiology and Neuroradiology, Children’s Hospital V. Buzzi, Milan, Italy

    Cecilia Parazzini

  7. Molecular Genetics of Neurodevelopment Laboratory, Department of Women’s and Children’s Health, University Hospital of Padova, Padova, PD, Italy

    Alessandra Murgia

  8. Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Department of Health Sciences, University of Milano, Milan, Italy

    Angela Peron

  9. Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA

    Angela Peron

  10. Epilepsy Center, Health Sciences Department, University of Milano, Milan, Italy

    Paola Canevini & Aglaia Vignoli

  11. Epilepsy and Sleep Medicine Center - Neuropsychiatric Unit - ASST Santi Paolo Carlo, Milan, MI, Italy

    Francesca Labriola

Authors
  1. Renzo Manara
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  2. Davide Brotto
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  3. Samuela Bugin
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  4. Maria Federica Pelizza
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  5. Stefano Sartori
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  6. Margherita Nosadini
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  7. Sara Azzolini
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  8. Giorgio Iaconetta
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  9. Cecilia Parazzini
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  10. Alessandra Murgia
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  11. Angela Peron
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  12. Paola Canevini
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  13. Francesca Labriola
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  14. Aglaia Vignoli
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  15. Irene Toldo
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Corresponding author

Correspondence to Renzo Manara.

Ethics declarations

Funding

No funding was received for this study.

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. For this type of study formal consent is not required.

Informed consent

For this type of retrospective study formal consent is not required.

Electronic supplementary material

e-Fig. 1

MRI of normal olfactory bulbs and sulci in tuberous sclerosis complex patients; magnifications of rhinencephalon and forebrain details are on the right. A) coronal T2-weighted image disclosing the oval shape of the anterior rhinencephalon (short arrows) within the olfactory grooves; the olfactory sulci indent the inferior surface of the frontal lobes about one centimeter from the midline (arrowheads); several cortical tubers are recognizable, especially in the right frontal lobe B) axial image at the level of the upper portion of the orbits showing the olfactory sulci (arrowheads) separating the giri recti from the remaining orbitofrontal cortex; the crista galli (*) is also recognizable; C) Parasagittal T2-weighted image disclosing the cigar-like olfactory bulb (short arrows). Subependymal nodules and giant astrocytoma are evident close to Monro’s foramina. (PNG 1341 kb)

High resolution image (TIF 5564 kb)

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Manara, R., Brotto, D., Bugin, S. et al. Rhinencephalon changes in tuberous sclerosis complex. Neuroradiology 60, 813–820 (2018). https://doi.org/10.1007/s00234-018-2045-x

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  • DOI: https://doi.org/10.1007/s00234-018-2045-x

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