neuronal ceroid lipofuscinosis
Pronunciation: new-ROH-nal SEE-royd LIP-oh-fus-in-OH-sis
A group of inherited lysosomal storage disorders characterized by progressive neurodegeneration, vision loss, and seizures in children.
Full Definition
Neuronal ceroid lipofuscinosis (NCL) encompasses a group of autosomal recessive lysosomal storage disorders characterized by the abnormal accumulation of lipofuscin-like material in neurons and other cells. Different subtypes (CLN1-14) are distinguished by age of onset, genetic defect, and clinical progression. Common features include progressive cognitive decline, visual impairment leading to blindness, motor dysfunction, and various types of seizures. The condition typically presents in infancy or childhood with developmental regression, and diagnosis is confirmed through genetic testing, enzyme analysis, or electron microscopy showing characteristic storage material. Treatment is largely supportive, though enzyme replacement therapy is available for some forms.
Usage
Usage note: Often referred to as Batten disease in lay terminology. Specify subtype (CLN1, CLN2, etc.) when known.
In Context
- "Genetic testing confirmed CLN2 neuronal ceroid lipofuscinosis in the patient with progressive myoclonic epilepsy." — Diagnostic report
- "The characteristic ultrastructural findings supported the diagnosis of neuronal ceroid lipofuscinosis." — Pathology report