HENNEKAM SYNDROME: LITERATURE REVIEW
Introduction Hennekam syndrome is an autosomal recessive disease with lymphangiectasia, severe peripheral lymphedema, abnormalities of the face, cramps, mild growth and mental retardation.
The aim of the study to describe the clinical characteristics of Hennekam syndrome.
Search strategy. The databases of Scopus, Web of Science, and PubMed were used to conduct a comprehensive literature search. Complete publications that had been released in peer-reviewed journals up through May 2023 were chosen. Search parameters included the terms "Hennekam syndrome" and "Lymphedema-Lymphangiectasia-Mental Retardation Syndrome." Thus, 83 publications were discovered, from which 53 articles were chosen.
Results: The literature describes more than 50 cases Hennekam syndrome. Lymphedema, resulting hypoplasia lymphatic system usually appears at birth and in early infancy, in the form of swelling of limbs, genitals, face and eyes. Intestinal lymphangiectasia can lead to protein-losing enteropathy, mild growth retardation, peripheral edema, and ascites. At biochemical study determined hypogammaglobulinemia, hypoalbuminemia, lymphopenia and increased alpha-1 antitrypsin. In this article, a review of the literature and descriptions of each reported case of Hennekam syndrome were made.
Assylzhan M. Messova1, https://orcid.org/0000-0001-5373-0523
Kuat D. Akimzhanov1, https://orcid.org/0000-0003-1886-0538
Oxana Yurkovskaya1, https://orcid.org/0000-0002-6251-5574
Yerbol M. Smail1, https://orcid.org/0000-0003-3881-3747
Samatbek T. Abdrakhmanov1, https://orcid.org/0000-0002-4270-3498
Altynai K. Adilbaeva2, Anar S. Karazhanova3
1 Semey Medical University, Semey, Republic of Kazakhstan;
2 Viamedis, Pavlodar, Republic of Kazakhstan;
3 Astana Medical University, Astana, Republic of Kazakhstan.
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Messova A.M., Akimzhanov K.D., Yurkovskaya O., Smail Ye.M., Abdrakhmanov S.T., Adilbaeva A.K., Karazhanova A.S. Hennekam syndrome: literature review // Nauka i Zdravookhranenie [Science & Healthcare]. 2023, (Vol.25) 3, pp. 208-213. DOI 10.34689/SH.2023.25.3.027Related publications:
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