Neuronal Ceroid Lipofuscinosis

Neuronal ceroid lipofuscinosis (NCL, Batten disease) is a group of inherited lysosomal storage diseases causing lipopigment accumulation in neurons. Childhood forms (infantile, late-infantile, juvenile) present with vision loss, seizures/myoclonus, progressive dementia, and motor decline; fatal in childhood/adolescence. Adult forms (Kufs) present with ataxia/dementia. Treatment is supportive (antiepileptics, vision/palliative care); enzyme/gene trials ongoing.

Common Symptoms

Vision loss; seizures/myoclonus; progressive dementia; motor decline; ataxia; early childhood death

Causes and Pathogenesis

Multiple gene defects cause lysosomal lipopigment accumulation in neurons, leading to progressive neurodegeneration.

Treatment

Supportive; antiepileptics; palliative care; gene/enzyme-therapy trials

Preventive Measures

Genetic counseling; family screening; multidisciplinary supportive care.

Department to Visit

It is recommended to visit the Neurology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.