Which endocrinologic disorder may present as a gray matter neurodegenerative disease if it is missed on the newborn screening?
Congenital hypothyroidism (cretinism) is extremely difficult to detect clinically at birth, and the diagnosis may not be suspected until it is too late for replacement therapy to be maximally efficacious.
Left untreated, these children develop prolonged jaundice, abdominal distention with umbilical hernia, large fontanelles, hypotonia, impaired bony development, large tongue, psychomotor retardation, seizures, spasticity, ataxia, and deafness.