Choroido cerebral calcification syndrome infantile

Choroido cerebral calcification syndrome, infantile is a rare genetic disorder characterized by the abnormal accumulation of calcium deposits in the brain and choroid plexus, the network of blood vessels in the brain responsible for producing cerebrospinal fluid. This condition is typically diagnosed in infancy, hence the designation "infantile" in its name.

Symptoms and Diagnosis

The primary symptoms of Choroido cerebral calcification syndrome, infantile, include neurological impairments such as seizures, developmental delays, and possible intellectual disability. Physical symptoms may also be present, including microcephaly (a condition where the head is smaller than normal), spasticity (a condition where certain muscles are continuously contracted), and other abnormalities.

Diagnosis of this syndrome is primarily based on imaging techniques such as Computed Tomography (CT) scans or Magnetic Resonance Imaging (MRI), which can reveal the characteristic calcium deposits in the brain and choroid plexus. Genetic testing may also be conducted to identify mutations associated with the syndrome, providing a definitive diagnosis.

Causes

Choroido cerebral calcification syndrome, infantile, is caused by genetic mutations. The exact genes involved can vary, but mutations lead to the abnormal accumulation of calcium in the brain tissues. The 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 by the disorder.

Treatment

There is no cure for Choroido cerebral calcification syndrome, infantile. Treatment focuses on managing symptoms and improving the quality of life for affected individuals. This may include the use of medications to control seizures, physical therapy to manage spasticity, and special educational programs to support developmental and intellectual growth. The management of this condition requires a multidisciplinary approach, involving neurologists, pediatricians, and other specialists.

Prognosis

The prognosis for individuals with Choroido cerebral calcification syndrome, infantile, varies depending on the severity of symptoms and the effectiveness of management strategies. Early intervention and supportive care can improve outcomes, but the condition can significantly impact life expectancy and quality of life.

See Also

• Genetic disorder
• Neurological disorders
• Pediatrics

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