Which disease is characterized by severe neurologic deterioration following normal development in infancy?

Krabbe Disease, also known as globoid cell leukodystrophy, is characterized by severe neurologic deterioration following normal development during infancy. This condition arises from a deficiency of the enzyme galactocerebrosidase, which is crucial for the metabolism of certain lipids in the brain. The lack of this enzyme leads to the accumulation of toxic substances that progressively damage the myelin sheath, resulting in the loss of motor and cognitive functions.

Infants with Krabbe Disease typically appear healthy at birth but begin to show signs of developmental regression, irritability, feeding difficulties, and diminished muscle tone around six months of age. As the disease progresses, they experience profound neurological decline, including loss of vision, seizures, and paralysis.

Understanding the distinct features of Krabbe Disease provides critical context regarding infantile developmental disorders. While other conditions listed may also involve metabolic processes and have neurological implications, they typically present with different patterns of symptoms or developmental changes. For example, Gaucher Disease primarily affects organs like the liver and spleen, Sanfilippo Syndrome is associated with behavioral issues rather than pure neurodegeneration, and Hunter Syndrome tends to cause more gradual physical and cognitive decline rather than a sudden deterioration following normal initial development.