infantile neuronal ceroid lipofuscinosis 2 (Bielschowsky-Jansky type, CLN2)

Pathology

• lipofuscinosis
• lipopigment pattern most consists of curvilinear profiles

Genetics

• associated with defects in TPP1

Clinical manifestations

• mental retardation
• visual impairment
• seizures
• myoclonus

Laboratory

• TPP1 gene mutation

More general terms

• infantile neuronal ceroid lipofuscinosis (INCL)

Database

• OMIM: https://mirror.omim.org/entry/204500