N 6 (197) 2025. P. 85–92

A CLINICAL CASE OF HOYERALL-HREIDARSSON SYNDROME MANIFESTING IN ADOLESCENCE

O. Ya. Grechanina, Ya. R. Grechanyn, D. V. Shkolnikova, Yu. M. Kupriyanchuk, O. M. Klimova

Kharkiv National Medical University, Kharkiv, Ukraine
Municipal Non-commercial Enterprise of Kharkiv Regional Council “Interregional Specialized Medical-Genetic Center for Rare (Orphan) Diseases”, Kharkiv, Ukraine
State Institution “Institute of General and Emergency Surgery named after V. T. Zaitsev of the National Academy of Medical Sciences of Ukraine”, Kharkiv, Ukraine

Introduction. Hoyerall–Hreidarsson syndrome (HH) is a rare genetic disease The disease is caused by mutations in the genes of the telomerase complex, in particular RTEL1.

The aim of the work was to demonstrate the importance of identifying the rare genetic disease HH syndrome manifesting in adolescence, on the basis of clinical, metabolic and genetic parameters.

Materials and Methods. The actual observation of a patient diagnosed with HH syndrome during the dynamic monitoring by a multidisciplinary team from 2020 to 2025 years is presented. The data of the patient’s documentation, clinical manifestations, laboratory and instrumental studies and genetic testing (genome sequencing, screening for 21 rare genetic diseases) are demonstrated.

Results and discussion. Based on multisystem complaints on fever, persistent viral infections, arthralgias, skin rash, examination data (hepato and splenomegaly, cerebellar ataxia, hyperkeratosis, telangiectasias, leukocytosis with B cell immunodeficiency), genome sequencing (RTEL1 Regulator of Telomere Elongation Helicase 1) c.3791G>A (p.Arg1264His), heterozygote; CNV finding: DOCK8 duplication (exons 1–26, CN≈3) VUS) in a young adult, a diagnosis of HH syndrome was established.

Conclusions. Hoyerall-Hreidarsson syndrome may manifest itself as atypical in adolescence. Confirmation of the diagnosis is possible using the molecular genetics method of sequencing.

Key words: Hoyerall–Hreidarsson syndrome; RTEL1; ataxia, arthralgia; DOCK8.

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