Emerging insights into primary ciliary dyskinesia-associated hydrocephalus: a scoping review

Hydrocephalus, a condition caused by fluid buildup in the brain, is now recognized as a possible complication of primary ciliary dyskinesia (PCD)-a rare genetic disorder that affects the movement of tiny, hair-like structures called motile cilia. This review brings together current knowledge about the disease's causes, symptoms, and treatments. Specific gene mutations like MCIDAS, DNAH5, CCNO, and IFT46 are key factors, as they disrupt normal cilia movement and fluid flow. Other structural problems, such as narrowed brain passages or overproduction of brain fluid, can worsen the condition. Patients often experience symptoms ranging from developmental delays in infants to headaches and vision issues in older individuals. Because symptoms can overlap with other conditions, early brain imaging and genetic testing are essential. While treatment currently focuses on symptom control, new research may lead to more targeted, gene-based therapies.