Case report of a patient with Prader-Willi-like syndrome with 6q16.1-16.3 microdeletion

Czech version

Authors: Jarmila Vojtková; Alena Szökeová; Anna Urdíková; Terézia Krá Ová; Adam Markocsy; Dominika Dvorská; Peter Urdík; Miloš Jeseňák
Authors‘ workplace: Slovensko ; Jesseniova lekárska fakulta ; Univerzita Komenského, v Bratislave a Univerzitná, nemocnica Martin ; Klinika detí a dorastu
Published in: Čes-slov Pediat 2026; 81 (1): 43-47.
Category: Journal Articles
doi: https://doi.org/10.55095/CSPediatrie2025/053

Overview

Prader-Willi-like syndrome includes a genetically heterogeneous group of syndromes with a phenotype partially similar to patients with Prader-Willi syndrome. These include hypotonia, delayed psychomotor development, some endocrinopathies or diseases of other organ systems. The authors present a case report of a girl diagnosed with a 6q16.1-16.3 microdeletion, which belongs to the Prader-Willi-like syndrome group. The clinical picture was dominated by global hypotonic syndrome, psychomotor retardation and, from the age of 18 months, a gradual increase in body weight relative to the current body height. At the age of 4 years, her body height was 94.9 cm (-2.1SD) and growth hormone deficiency was confirmed in two stimulation tests. Growth hormone therapy was initiated, which is beneficial not only in terms of growth gains, but also in terms of muscle mass formation and improvement of gross motor skills. Patients with Prader-Willi-like syndrome require a multidisciplinary approach and monitoring by several specialists according to specific clinical symptoms.

Keywords:

Growth hormone – children – hypotonus – Prader-Willi-like syndrome – psychomotor delay – microdeletion 6q

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