Page 91 - BH-3-1

Brain & Heart Brain lesions with PROKR2 microduplication

A B Author contributions
Conceptualization: All authors
Investigation: All authors
Writing – original draft: All authors
Writing – review & editing: All authors

Ethics approval and consent to participate
The manuscript did not need the approval of the Ethical
Committee of our University Administration as this is not
a requirement for the publication of a single case provided
that it is of definite interest to the scientific community
(Regulations of the Ethical Committee of “Area Vasta
Emilia Nord,” Italy, approved on September 22, 2020).
Figure 3. Multiple necrotic foci of varying sizes within the molecular
laminae containing numerous inflammatory mononuclear cells (thin Consent for publication
arrows), rare peripheral polynuclear leukocytes (solid arrowhead, inset),
and multiple capillary dilatations (A and B). Hematoxylin and eosin Informed consent for publishing his/her data was obtained
staining; Scale bar: A: 2.1 cm; B = 1.3 cm; Magnification: A: 2.5×, B: 4× verbally from the mother, and patient anonymity was
maintained.
A B
Availability of data

Data and materials are available from the authors upon
reasonable request.

References
1. Brouillet S, Hoffmann P, Benharouga M, et al. Molecular
characterization of EG-VEGF-mediated angiogenesis:
Figure 4. Focal necrosis with extensive spongiosis, disrupted neuropil, Differential effects on microvascular and macrovascular
rare degenerating neurons (solid arrowheads), isolated polynuclear endothelial cells. Moll Biol Cell. 2010;21:2832-2843.
leukocytes (rectangular box), axonal spheroids (thin arrows), and
capillary proliferation (A) in the basal ganglia; similar features of focal doi: 10.1091/mbc.E10-01-0059
necrosis in the hemispheric white matter (B). Hematoxylin and eosin
staining; Scale bar: A and B: 0.5 cm; Magnification: A and B: 10× 2. Mangali S, Bhat A, Jadhav K, et al. Upregulation of PKR
pathway mediates glucolipotoxicity induced diabetic
cardiomyopathy in vivo in wistar rats and in vitro in cultured
4. Conclusion cardiomyocytes. Biochem Pharmacol. 2020;177:113948.
This case report describes an infant with a previously doi: 10.1016/j.bcp.2020.113948
unreported CNV PROKR2 microduplication. The findings 3. Urayama K, Dedeoglu DB, Guilini C, et al. Transgenic
suggest that this CNV could play a primary causal role in myocardial overexpression of prokineticin receptor-2
human heart and brain damage. Such effects may manifest (GPR73b) induces hypertrophy and capillary vessel leakage.
during the neonatal period or early infancy, rather than Cardiovasc Res. 2009;81:28-37.
being restricted to older children and adults. Consequently, doi: 10.1093/cvr/cvr251
this CNV should be considered a potential contributing
factor in cases of sudden infant death syndrome. 4. Nebigil CG. Prokineticin receptors in cardiovascular
function: Foe or friends? Trends Cardiovasc Med. 2004;19:
Acknowledgments 55-60.
None. doi: 10.1016/j.tcm.2009.04.007
5. Boulberdaa M, Urayama K, Nebigil CG. Prokineticin
Funding receptor 1 (PKR1) signalling in cardiovascular and kidney
None. functions. Cardiovasc Res. 2011;92:191-198.
doi: 10.1093/cvr/cvr228
Conflict of interest
6. Wang H, Xu X, Fassett J, et al. Double-stranded RNA-
The authors declare that they have no competing interests. dependent protein kinase deficiency protects the heart

Volume 3 Issue 1 (2025) 4 doi: 10.36922/bh.4281