- Neurodegenerative disorders of childhood encompass a large, heterogeneous group of diseases that result from specific genetic and biochemical defects, chronic viral infections, and varied unknown causes. Children with suspected neurodegenerative disorders were once subjected to brain and rectal (neural) biopsies, but with modern neuroimaging techniques and specific biochemical and molecular diagnostic tests, these invasive procedures are rarely necessary. The most important component of the diagnostic investigation continues to be a thorough history and physical examination.
- The hallmark of a neurodegenerative disease is regression and progressive deterioration of neurologic function with loss of speech, vision, hearing, or locomotion, often associated with seizures, feeding difficulties, and impairment of intellect. The age of onset, rate of progression, and principal neurologic findings determine whether the disease affects primarily the white or the gray matter. Upper motor neuron signs and progressive spasticity are the hallmarks of white matter disorders; convulsions, intellectual, and visual impairment that occur early in the disease course are the hallmarks of grey matter disorders. A precise history confirms regression of developmental milestones, and the neurologic examination localizes the process within the nervous system. Although the outcome of a neurodegenerative condition is usually fatal and available therapies are often limited in effect, it is important to make the correct diagnosis so that genetic counseling may be offered and prevention strategies can be implemented. Bone marrow transplantation and other novel therapies may prevent the progression of disease in certain presymptomatic individuals. For all conditions in which the specific enzyme defect is known, prevention by prenatal diagnosis (chorionic villus sampling or amniocentesis) is possible. Carrier detection is also often possible by enzyme assay.
- NEURODEGENERATIVE DISEASE PG DISCUSSION 2014
Superintendent, ICH.