Neuronal cerebellolipidosis

Neuronal ceroid lipofuscinosis (NCL) is the most common inherited progressive neurological degenerative disease in a group of children. Although most patients develop childhood illnesses, they also occasionally occur in adults. Its clinical features include progressive dementia, refractory seizures, and vision loss. Pathologically, the lipochrome with yellow autofluorescence characteristics is deposited in nerve cells and other cells, leading to the loss of nerve cells mainly in the cerebral cortex and retina. Ultrastructural examination revealed that lipopigments were composed of granular, linear, and fingerprint-like substances in different clinical subtypes. In addition to the presence of nerve cells in the central nervous system, these deposits can be found on skin biopsies and ultrastructural examinations of blood lymphocytes.

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