neuronal ceroid lipofuscinosis 3

A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compou

A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Psychomotor deterioration
• Vacuolated lymphocytes
• Reduced visual acuity
• Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
• Parkinsonism
• Progressive visual loss
• Retinal degeneration
• Loss of ambulation
• Seizure

Also known as: Batten disease; CLN3; juvenile neuronal ceroid lipofuscinosis