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Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling
- Source :
- Heliyon, Vol 9, Iss 4, Pp e14712- (2023)
- Publication Year :
- 2023
- Publisher :
- Elsevier, 2023.
-
Abstract
- Sonic hedgehog (Shh) signaling pathways are known to play an important role in the morphological development of the hippocampus in vivo, but their actual roles in humans have not been clarified. Hypothalamic hamartoma (HH) is known to be associated with germline or somatic gene mutations of Shh signaling. We hypothesized that patients with HH and mutations of Shh-related genes also show hippocampal maldevelopment and an abnormal hippocampal infolding angle (HIA). We analyzed 45 patients (age: 1–37 years) with HH who underwent stereotactic radiofrequency thermocoagulation and found Shh-related gene mutations in 20 patients. In addition, 44 pediatric patients without HH (age: 2–25 years) who underwent magnetic resonance imaging (MRI) examinations under the same conditions during the same period were included in this study as a control group. HIA evaluated on MRI was compared between patients with gene mutations and the control group. The median HIA at the cerebral peduncle slice in patients with the gene mutation was 74.36° on the left and 76.11° on the right, and these values were significantly smaller than the corresponding values in the control group (80.46° and 80.56°, respectively, p
Details
- Language :
- English
- ISSN :
- 24058440
- Volume :
- 9
- Issue :
- 4
- Database :
- Directory of Open Access Journals
- Journal :
- Heliyon
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.35aafacf3d3745b59adedc8cbc6d8331
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/j.heliyon.2023.e14712