Work

An 18-month-old girl with Vici syndrome: A case report study

Year: 2025

Type: article

Abstract: We report an 18-month-old female diagnosed with Vici syndrome, a rare congenital disorder characterized by developmental delay, albinism, cataracts, agenesis of the corpus callosum, hypotonia, and immunological anomalies. The patient, the second child of healthy first-cousin parents, presented with hypotonia at birth and subsequently developed bilateral cataracts, feeding difficulties, and multiple systemic manifestations, including kidney, bladder, and gallstones, as well as cardiomegaly and seizures. Genetic testing identified homozygous mutations in the EPG5 gene, confirming the diagnosis of Vici syndrome. The cardiac evaluation revealed a unique finding: serial echocardiograms initially detected multiple masses, which later regressed spontaneously, suggestive of a cardiac rhabdomyoma. • We present a detailed case of an 18-month-old girl diagnosed with VICI Syndrome, characterized by developmental delay, albinism, bilateral cataracts, agenesis of the corpus callosum, and immunodeficiency. • Notably, cardiac evaluation revealed transient echogenic masses suggestive of cardiac rhabdomyoma, a unique cardiac manifestation associated with VICI Syndrome.

Source: Molecular Genetics and Metabolism Reports

DOI: 10.1016/j.ymgmr.2025.101205

Authors: Parsa Forouhar, Mohammad Amin Eghtedari, Maryam Taraz, Mahsa Abdullahpour, Mohammad Mehrpouyan, Zhale Askarzade

Institutions: Dezful University of Medical Sciences, Ahvaz Jundishapur University of Medical Sciences

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,400