Н. V. Bordyugova¹, A. V. Dubovaya¹, V. H. Konov², N. V. Katrich²

¹ Gorky Donetsk National Medical University, Donetsk,

² Husak Institute of Emergency and Reconstructive Surgery, Donetsk, 283045

Contact:

Bordyugova Olena Vyacheslavovna – PhD (medicine), Associate Professor of the Department of Pediatrics No. 3

Address: 16 Ilyich Avenue, Donetsk 283003, tel.: +380713347650, e-mail:

 Objective: to study the clinical manifestations of the LEOPARD syndrome in representatives of one family, to define the peculiarities of cardio pathologies in dynamic observation.

Methods and materials: long-term observation of patients with LEOPARD syndrome, study of family anamnesis, analysis of medical histories. Patients were consulted by a geneticist. In two people, the diagnosis was confirmed with a molecular-genetic method.

Results. We are monitoring a family, 6 representatives of which in four generations have LEOPARD syndrome. The disease is maternally transmitted. Patients of all generations have dwarfism, multiple lentigo, “triangular” face, hypertelorism of the eyes, a peculiarity of the position of the auricles, pterygoid scapula. The patients – third-generation relatives and probands – sisters of 5 and 7 years old, various pathologies of the cardiovascular system were revealed, such as: pulmonary artery stenosis, ventricular septal defect, ventricular septal hypertrophy, mitral valve prolapse. Representatives of the third generation have a medical history of hypogonadism, primary amenorrhea, uterine fibroids, nervous system malfunctions (convulsions, syncope), and learning difficulties. None of the members of this family have chest deformation and deafness typical for LEOPARD syndrome.

Conclusion: LEOPARD syndrome is characterized by significant polymorphism of clinical manifestations, even in members of the same family. Correct assessment of the phenotypic features of LEOPARD syndrome enables to promptly assume that the patient has congenital heart disease, hypertrophic cardiomyopathy, endocrine disorders, to prescribe adequate treatment, and prevent possible complications.

Key words: LEOPARD syndrome, multiple malformations, children.

REFERENCES

1. Belozerov Yu.M. Detskaya kardiologiya (nasledstvennye sindromy) [Children’s cardiology (hereditary syndromes)]. Elista: «NPP «Dzhangar», 2008. 400 p.
2. Kozlova S.I., Demikova N.S. Nasledstvennye sindromy i mediko-geneticheskoe konsul’tirovanie: Atlas-spravochnik. 3-eizd., pererab. i dopoln. [Hereditary syndromes and medical genetic counseling: Atlas-reference book. 3rd ed., Rev. and complementary]. Moscow: T-vonauchnykhizdaniy KMK; Avtorskaya akademiya, 2007. 448 p.
3. Coppin B.D., Temple I.K. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet., 1997, Jul; 34(7): 582-586.
4. Sarkozy A., Digilio M.C., Dallapiccola B. Leopardsyndrome. Orphanet Journal of Rare Diseases, 2008, 3:13, available at: http://www.ojrd.com/content/3/1/13
5. Nasledstvennye bolezni: natsional’noe rukovodstvo, pod red. Bochkova N.P., Gintera E.K., Puzyreva V.P. [Hereditary diseases: national leadership, ed. Bochkov N.P., Ginter E.K., Puzyrev V.P.]. Moscow: GEOTAR-Media, 2013. 936 p
6. FaAssen M.V. RAS-pathies: Noonan’s syndrome and other related diseases. Literature review. Problemy endokrinologii, 2014, no. 6, pp. 45-52 (in Russ.).
7. Dzemeshkevich S., Frolova Yu., Betekhtin M. et al. Clinical case of a 17-year-old male with LEOPARD syndrome. Journal of Cardiology Cases, issue 7, p.4 (2013) (in Russ.), available at: http://www.journalofcardiologycases.com/article/S1878-5409%2812%2900120-X»7
8. Korovkina E.A. Sindromal’nye sostoyaniya, soprovozhdayushchiesya nizkoroslost’yu (kliniko-geneticheskie aspekty): avtoref. kand med. nauk [Syndromic conditions accompanied by short stature (clinical and genetic aspects). Synopsis of dis. PhD med. sciences]. Moscow, 2008. 26 p.
9. Komolkin I.A., Afanas’ev A.P., Shchegolev D.V. The role of heredity in the origin of congenital chest deformities (literature review). Geniy ortopedii, 2012, no. 2, pp. 152-156 (in Russ.).
10. Galakhin K.A., Gordienko V.I. Pigmented neoplasms of the skin. Med. aspekty zdorov’ya zhenshchiny, 2007, no. 4, pp. 60-63 (in Russ.).
11. Goncharova Ya. Epidermal hypermelanosis and their cosmetic correction. Kosmetik international journal, 2012, no. 1, pp. 2-5 (in Russ.).
12. Sidorova L.D., Ton’shova L.N. Syndrome «LEOPARD» in a patient with sebocystomatosis. Klinicheskaya meditsina, 2001, no. 6, pp. 65-67 (in Russ.).
13. Gabrusenko S.A., Saidova M.A., Stukalova O.V. et al. LEOPARD syndrome. Kardiologiya. 2020, vol. 60, no. 3, pp. 137-141 (in Russ.).
14. Rizun L.I. Voronina T.S., Frolova Yu.V. et al. Progressive hypertrophic cardiomyopathy in LEOPARD syndrome. Khirurgiya, 2012, no. 12, pp. 56-61 (in Russ.).
15. Tural’chuk M.V., Novak G.A., Gudkova A.Ya. Hypertrophic cardiomyopathy in the structure of congenital multiple organ syndromes in early childhood patients. Voprosy sovremennoy pediatrii, iss. no. 3, 2011, vol. 10, pp. 166-169 (in Russ.).
16. Kurilo L.F., Andreeva M.V., Kolomiets O.L. et al. Genetic syndromes with developmental disorders of the reproductive system. Andrologiya i genital’naya khirurgiya, 2013, no. 4, pp. 17-27 (in Russ.).
17. Cetinkaya E., Gunal N., Sonmez N. et al. LEOPARD syndrome and hypertrofic obstructive cardiomyopathy: a case report. Turk. J. Peiatr., 2004, Oct-Dec;46(4): 373-6.