Abstract Filamin A (FLNA) variants cause periventricular nodular heterotopia (PVNH) and can present with extracerebral features. We report a 19-month-old girl with recurrent lower-respiratory infections and global developmental delay. She was born at term and had hypotonia, generalised joint hypermobility (Beighton 6/9), mild skin hyperextensibility, a reducible umbilical hernia, and intermittent self-resolving blue patches concerning for bruising versus an inflicted process; blood counts and coagulation studies were normal. Bronchoscopy showed diffuse severe bronchomalacia, and brain MRI demonstrated bilateral extensive periventricular nodular heterotopia. Targeted testing identified an apparently novel heterozygous FLNA splice-donor variant, classified as likely pathogenic. Recognizing a unifying diagnosis guided multidisciplinary supportive care and prompted structured surveillance for cardiopulmonary and connective-tissue complications, while helping avoid misclassification of benign cutaneous findings as inflicted injury.
Ghais et al. (Fri,) studied this question.
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