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

Abstract

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

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

Copyright

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.