OBSOLETE: Congenital neuronal ceroid lipofuscinosis

Congenital neuronal ceroid lipofuscinosis (also known as congenital NCL or CLN10 disease, congenital type) was a term used to describe the most severe and earliest-onset form of the neuronal ceroid lipofuscinoses (NCLs), a group of inherited neurodegenerative lysosomal storage disorders. This entry in Orphanet (code 168486) is now classified as OBSOLETE, meaning it has been retired or merged into other disease classifications. The condition it originally described is associated with mutations in the CTSD gene (cathepsin D deficiency) and presents at birth or prenatally with severe neurological impairment, microcephaly, seizures, and respiratory failure. Affected neonates typically exhibit profound brain atrophy, status epilepticus, and often die within hours to weeks after birth. The central nervous system is primarily affected, with massive accumulation of autofluorescent lipopigment (ceroid-lipofuscin) in neurons and other tissues. This congenital form is now generally classified under CLN10 disease within the broader NCL classification framework. There is no curative treatment; management is purely supportive and palliative. Patients and families seeking information about this condition should refer to the current Orphanet entries for CLN10 disease or cathepsin D deficiency-related NCL for the most up-to-date clinical and genetic information.

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