Acta Scientific Neurology (ASNE) (ISSN: 2582-1121)

Research Article Volume 5 Issue 3

Pain Insensitivity in Cri du Chat Syndrome

G. Albani1, A. Liava2, N. Cresta3, C. Danesino4, M. De Gennaro1, F. Ismelli6, A.Cistaro5, A. Guala3

1Department of Neurology, Istituto Auxologico Italiano, IRCCS, Piancavallo-Verbania, Italy
2Pediatric Neurology and Psychiatry Service, Castelli Hospital, Verbania, Italy
3Department of Pediatrics, Castelli Hospital, Verbania, Italy
4Genetics, Department of Molecular Medicine, University of Pavia, Italy
5Department of Nuclear Medicine, Galliera Hospital, Genoa, Italy; Pediatric Study Group, Association of Italian Nuclear Medicine
6Rehabilitation Unit, Istituto Auxologico Italiano, Clinical and Research Institute

*Corresponding Author: Francesco Ismelli, Rehabilitation Unit, Istituto Auxologico Italiano, Clinical and Research Institute 28922 Verbania, Italy.

Received: November 30, 2021; Published: February 15, 20212


Background: Cri-du-Chat Syndrome (CdCS) is a rare genetic disease, caused by a deletion of variable size on the short arm of chromosome 5, and characterized by a cat-like cry, intellectual disability and high frequency of self-injured behavior, such as Skin Picking. Parents often report an altered pain perception in these patients during their activities of daily life.

Aim: To evaluate the sensory peripheral pathways in CdCS patients.

Methods: We evaluated four patients with CdCS by Quantitative Sensory Study (QST), neurological exam and nerve conduction studies.

Results: All four CdCS patients showed a high threshold and an exaggerate tolerance to thermal (cold and warm) stimuli at QST, even if the clinical history, the neurological exam and the nerve conduction study were negative for a peripheral neuropathy.

Conclusions: Our study is the first description of an altered perception of pain in CdCS patients. Potential peripheral and central mechanisms are discussed.

Keywords: Insensitivity; Chat Syndrome; Pain; CdCS


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Citation: Albani G., et al. “Pain Insensitivity in Cri du Chat Syndrome" Acta Scientific Neurology 5.3 (2022): 05-10.


Copyright: © 2022 Albani G., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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