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Rhinencephalon changes in tuberous sclerosis complex.

Renzo Manara1, Davide Brotto2, Samuela Bugin3

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

Neuroradiology
|June 18, 2018
PubMed
Summary
This summary is machine-generated.

Olfactory bulb abnormalities, including aplasia and hamartomas, affect 7.2% of tuberous sclerosis complex (TSC) patients. These changes correlate with more cortical tubers but not overall clinical severity.

Keywords:
MRIOlfactory bulbOlfactory sulcusTuberous sclerosis complex

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Radiology

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in multiple organs, including the brain.
  • Olfactory bulb development is complex, and its abnormalities in TSC have been understudied.
  • Rhinencephalon abnormalities can impact neurological function and development.

Purpose of the Study:

  • To investigate the prevalence and characteristics of olfactory bulb and related forebrain abnormalities in patients with tuberous sclerosis complex (TSC).
  • To explore the potential correlation between rhinencephalon changes and other neuroimaging findings, such as cortical tubers, in TSC patients.

Main Methods:

  • Retrospective analysis of brain MRIs from 110 TSC patients.
  • Evaluation for signal and morphological abnormalities of the olfactory bulb (hypo/aplasia, hamartomas).
  • Assessment of cortical tuber number and neurological severity score; comparison between patients with and without rhinencephalon abnormalities.

Main Results:

  • 7.2% of TSC patients exhibited rhinencephalon MRI changes, including olfactory bulb aplasia/hypoplasia and hamartomas.
  • Olfactory bulb hypo/aplasia was associated with ipsilateral olfactory sulcus hypoplasia.
  • Patients with rhinencephalon changes had significantly more cortical tubers (p=0.006) but similar clinical severity (p=0.45) compared to those without.

Conclusions:

  • Olfactory bulb and forebrain abnormalities are not uncommon in individuals with TSC.
  • Further research is needed to determine the clinical significance of these imaging findings, particularly in older individuals, for TSC management.