Hereditary and Metabolic Diseases of the Central Nervous System in Adults

The adult neurologist may also encounter patients with childhood-onset genetic disorders that were overlooked. This is in addition to patients with known childhood-onset neurogenetic disorders who survive into adulthood. A genetic diagnosis also provides better prognostic information about the disease course; allows better screening for and treatment of disease-associated complications in other organ systems; eliminates unnecessary testing; and provides closure for the patient, making them eligible for disease-specific clinical trials. The routine evaluation should include assessment for liver or spleen enlargement, eye involvement such as iris abnormalities, early cataracts, retinopathy, or optic atrophy. Another rarely volunteered but easily asked piece of information is whether there are any foods the patient avoids or cannot eat because they cause problems. The standard diagnostic evaluation for acute or recurrent encephalopathy should include simple laboratory tests for signs of metabolic disorders such as metabolic acidosis, hyperammonemia, or hypoglycemia.