Congenital hydrocephalus

Congenital hydrocephalus is a condition present at birth characterized by an abnormal accumulation of cerebrospinal fluid (CSF) within the ventricles of the brain, leading to increased intracranial pressure and enlargement of the head. This occurs when the normal flow, absorption, or production of CSF is disrupted. The condition primarily affects the central nervous system and can result in progressive enlargement of the skull in infants (macrocephaly), bulging of the fontanelles, irritability, vomiting, downward deviation of the eyes ("sunset sign"), and developmental delays. Subtypes include congenital hydrocephalus due to aqueductal stenosis (Dandy-Walker malformation and other obstructive forms), as well as communicating forms where CSF absorption is impaired. Congenital hydrocephalus can occur as an isolated malformation or as part of a broader syndrome. Causes include genetic mutations (such as L1CAM mutations in X-linked hydrocephalus), neural tube defects, intrauterine infections (e.g., toxoplasmosis, cytomegalovirus), and intracranial hemorrhage. In many cases, the etiology remains unknown. If left untreated, the progressive accumulation of CSF can cause significant brain damage, cognitive impairment, motor deficits, and vision problems. The primary treatment for congenital hydrocephalus is surgical intervention. The most common procedure is the placement of a ventriculoperitoneal (VP) shunt, which diverts excess CSF from the brain ventricles to the peritoneal cavity for absorption. Endoscopic third ventriculostomy (ETV) is an alternative surgical approach, particularly for obstructive forms, which creates a new pathway for CSF drainage. Early diagnosis and treatment are critical for optimizing neurodevelopmental outcomes. Long-term follow-up is essential, as shunt complications including infection, obstruction, and over-drainage are common and may require revision surgeries. Prognosis varies widely depending on the underlying cause, severity, associated malformations, and timeliness of treatment.

Common questions about Congenital hydrocephalus