Neuronal ceroid lipofuscinosis (Batten disease)
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A school-age child develops progressive vision loss, seizures, and cognitive decline. Fundoscopy shows retinal degeneration.
AR; multiple genes (CLN1-14)
- CLN3: Juvenile (classic Batten) - most common
- Group of disorders with lipofuscin accumulation
- Progressive vision loss (retinal degeneration)
- Seizures
- Cognitive and motor decline
- Variable age of onset depending on subtype
- Molecular testing of the CLN genes (panel) is the primary confirmatory test
- Enzyme assays for the lysosomal forms: PPT1 (CLN1) and TPP1 (CLN2) activity in leukocytes/fibroblasts
- Electron microscopy of tissue shows characteristic storage material (granular, curvilinear, or fingerprint profiles)
- Cerliponase alfa (CLN2 disease)