*Corresponding Author: Diana Henriques Pinto, Pediatrics Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, Portugal.

Received: February 27, 2024; Published: April 06, 2024

Abstract

Introduction: Kleefstra Syndrome is a rare genetic neurodevelopmental syndrome characterized by the presence of multiple congenital defects. Patients present a large variety of clinical symptoms: psychomotor delay and speech development, intellectual disability, muscular hypotonia and characteristic facial dysmorphic features. The cause of the syndrome is submicroscopic deletion in the chromosomal region 9q34.3 or an intragenic mutation of the Euchromatin Histone Methyltransferase 1 (EHMT1) gene.

Case Report: We present the case of a 3-year-old girl with psychomotor developmental delay and distinctive facial features in whom the diagnosis of the genetic syndrome was established at the age of 2 years by chromosome analysis using array-base comparative genomic hybridization (aCGH), which showed a pathogenic variant involving EHMT1. On physical examination, she had peculiar facies, with mild and nonspecific dysmorphia, and important hypotonia. She is currently doing progresses, supported by rehabilitation and with a multidisciplinary medical approach.

Discussion: Early diagnosis is extremely important for children and their families as it allows quick establishment of an adequate surveillance program, which has a great impact on improving the quality of life and prognosis for this children. This case presentation aims to alert for the diagnose of Kleefstra syndrome, as a rare syndrome with non-characteristic manifestations.

Keywords: Kleefstra syndrome; 9q34; Global Developmental Delay; Autism Spectrum Disorder; Childhood Hypotonia.

References

1. Kleefstra , et al. “Kleefstra Syndrome.” 2010 Oct 5 [updated 2023 Jan 26]. GeneReviews®. University of Washington, Seattle (2010): 1993-2023.
2. Haseley , et al. “Kleefstra syndrome: Impact on parents”. Disability and Health Journal 14 (2021): 101018.
3. Willemsen , et al. “Update on Kleefstra Syndrome”. Molecular Syndromology 2 (2011): 202-212.
4. Marchese G., et al. “Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report”. Neurological Sciences 37 (2016): 829-831.
5. Yamada A., et al. “Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome”. Journal of Human Genetics (2018).
6. Kohli , et al. “Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome)”. Cardiology in the Young Age (2018).
7. Alonso A., et al. “Defensive and offensive behaviours in a Kleefstra syndrome mouse model”. Animal Cognition 26 (2023): 1131-1140.

Citation

Citation: Diana Henriques Pinto., et al. “Kleefstra Syndrome: One Diagnosis to Remember".Acta Scientific Paediatrics 7.5 (2024): 03-05.

Copyright

Copyright: © 2024 Diana Henriques Pinto., 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.