Case report July 22, 2025 July 22, 2025

Progeroid features in a patient with Malouf syndrome due to a rare LMNA variant: a case report and review of the literature

DOI: 10.20945/2359-4292-2024-0491

Abstract

Laminopathiesrepresent a rare group of genetic disorders affecting various organs and tissues, including the skin, muscles, adipose tissue, bone, and cardiovascular system. The LMNA gene, the most common pathogenic gene responsible for laminopathies, harbors variants that can lead to diverse clinical phenotypes, such as progeroid syndromes, lipodystrophies, muscular dystrophies, and cardiomyopathies. This report presents a case of a young female patient who presented with prediabetes, secondary amenorrhea, and secondary osteoporosis. A 28-year-old female presented to our clinic with complaints of amenorrhea and decreased bone mineral density. She exhibited pronounced facial abnormalities and underdeveloped secondary sexual characteristics. Laboratory investigations revealed hypergonadotropic hypogonadism, prediabetes and hyperlipidemia. Significant mitral annular calcification was revealed via echocardiography. Genetic analysis revealed a de novo variant in exon 1 of the LMNA gene. This case reveals a novel laminopathy overlapping with the clinical features of Malouf syndrome while also exhibiting additional progeroid features, representing a distinct laminopathy. Furthermore, unlike previously reported cases with this genotype, it does not correspond to a progeroid syndrome typically associated with LMNA variants. Additionally, this case report is accompanied by a review of the relevant literature.