Hydrocephaly-cerebellar agenesis syndrome

Hydrocephaly-cerebellar agenesis syndrome is an extremely rare congenital malformation of the central nervous system characterized by the combination of hydrocephalus (abnormal accumulation of cerebrospinal fluid within the brain) and complete or near-complete absence (agenesis) of the cerebellum. The cerebellum is the part of the brain responsible for coordinating movement, balance, and muscle tone. This syndrome primarily affects the central nervous system and manifests at birth or prenatally. Key clinical features include severe hydrocephalus with enlarged head circumference (macrocephaly), absence or severe hypoplasia of the cerebellum, and associated neurological impairments including profound developmental delay, hypotonia (reduced muscle tone), and motor dysfunction. Additional brain malformations may be present in some cases. The condition is typically identified during the neonatal period, often detected prenatally through ultrasound imaging showing ventriculomegaly and absent cerebellar structures. Affected infants generally present with significant neurological compromise. The prognosis is typically very poor, with many cases resulting in early death. Treatment is primarily supportive and symptomatic. Surgical intervention such as ventriculoperitoneal shunting may be performed to manage hydrocephalus and reduce intracranial pressure, but this does not address the underlying cerebellar agenesis. Developmental support, physical therapy, and management of associated complications form the basis of ongoing care. Due to the extreme rarity of this condition, there are no disease-specific therapies, and management is guided by individual clinical presentation.

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