Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis

To the Editor: The term “neuronal ceroid lipofuscinosis”¹ refers to a group of the most common hereditary progressive encephalopathies of childhood and adolescence, for which the chemical nature of the storage material and the primary enzyme defect remain to be identified.² Four main syndromes are recognized, which differ in the age of onset, clinical course, and ultrastructural findings. The late infantile form of neuronal ceroid lipofuscinosis (Jansky–Bielschowsky–McKusick)³ is characterized by the development of seizures at three years of age, a leveling off of development, and rapid mental deterioration, with quadriplegia, spasticity, and blindness. Death usually occurs by the age of.