Clinical Neurogenetic Syndromes Diagnosis

How Are Neurogenetic Syndromes Diagnosed?

Clinical neurogenetic syndromes are congenital (present at birth), and depending on the specific disease, will manifest itselfself anytime throughout one’s lifespan. Sometimes hormonal changes, including puberty, can trigger tumor growth. The diagnosis is made with a physical examination and diagnostic tests.

During the examination, the physician obtains a complete medical history and asks if other family members are known to have any of these conditions. In babies and children, the physician will also ask about developmental milestones, since these disorders can be associated with other neurological problems and may require further medical follow-up.

Diagnostic tests may include:

• Genetic testing
  
• X-ray
  
• Magnetic resonance imaging (MRI)
  
• Computed tomography scan (CT or CAT scan) 
  
• Electroencephalogram (EEG)
  
• Cerebral angiograms
• Eye examination
• Blood tests
• Tissue sample of the tumor or skin lesion