Hydrocephalus autosomal recessive

Hydrocephalus autosomal recessive is a rare genetic disorder characterized by the abnormal accumulation of cerebrospinal fluid (CSF) in the brain's ventricles, leading to increased intracranial pressure, ventricular enlargement, and potentially, brain damage. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Causes

Hydrocephalus autosomal recessive is caused by mutations in specific genes that are crucial for the production, flow, and absorption of cerebrospinal fluid. While several genes may be implicated, mutations in the MPDZ gene and the CCDC88C gene have been identified in some families. These genes play roles in maintaining the integrity of the ependymal cells lining the ventricles and in the development of the central nervous system, respectively.

Symptoms

Symptoms of hydrocephalus autosomal recessive can vary widely among individuals but generally include rapid head growth in infants, vomiting, sleepiness, irritability, seizures, and downward deviation of the eyes. If left untreated, the condition can lead to significant physical and cognitive disabilities due to the pressure exerted on the brain by the excess CSF.

Diagnosis

Diagnosis of hydrocephalus autosomal recessive involves a combination of clinical evaluation, family history, and imaging studies such as ultrasound (in infants), magnetic resonance imaging (MRI), or computed tomography (CT) scans. These imaging techniques can reveal enlarged ventricles indicative of hydrocephalus. Genetic testing may also be conducted to identify mutations in the associated genes.

Treatment

Treatment for hydrocephalus autosomal recessive typically involves surgical intervention to reduce intracranial pressure and prevent further brain damage. The most common surgical procedures include the placement of a ventriculoperitoneal shunt to divert excess CSF from the brain to another part of the body where it can be absorbed, or endoscopic third ventriculostomy (ETV), which creates a new pathway for CSF flow within the brain.

Prognosis

The prognosis for individuals with hydrocephalus autosomal recessive varies depending on the severity of the condition, the timing of diagnosis, and the effectiveness of treatment. Early intervention can significantly improve outcomes, although some individuals may experience lifelong neurological and developmental challenges.