The many radiologic faces of filamin A mutation in 2-year-old girl: a case report

In this article, we present the case of a 2-year-old girl with Filamin A (FLN-A) mutation who exhibited thrombocytopenia, corpus callosum hypoplasia with periventricular nodular heterotopia, bicuspid aortic valve, mild pulmonary hypertension, bilateral lung hyperinflation, and gastroesophageal reflux. Filamin A is an actin-binding protein, expressed throughout the body that has several functions in cell signaling and preservation of cell shape and migration. Mutation in the FLNA gene is associated with a diverse array of disorders, including neuronal migration abnormality, and anomalies of connective and vascular tissue. The patient was presented with vomiting, desaturation during feeding, a need for supplemental oxygen, and cyanosis, leading to the presence of lung disease with lung hyperinflation, and pulmonary hypertension. Additionally, cerebral periventricular nodular heterotopia and corpus callosum hypoplasia, a bicuspid aortic valve, and gastroesophageal reflux were also identified. This case highlights the significance of various imaging findings in facilitating the early diagnosis of FLNA mutations and underscores the necessity of genetic testing. It also enhances our understanding of the wide spectrum of conditions associated with this mutation.