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Congenital neuronal ceroid lipofuscinosis

Orpha number ORPHA168486
Synonym(s) Congenital NCL
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • E75.4
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.

It is a rare form of NCL with only around 10 cases reported in the literature so far.

Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. The seizure activity may be noted before birth as unusually strong fetal movements.

CNCL is transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D.

Diagnosis is based on measurement of cathepsin D activity in cultures of skin fibroblasts or other tissues and autopsy findings (including neuron loss in the cerebral cortex, absence of myelin and the presence of autofluorescent storage bodies). The diagnosis can also be confirmed by identification of mutations in the CTSD gene.

The differential diagnosis should include brain malformations or inborn errors of metabolism associated with decreased brain size at birth (such as 3-phosphoglycerate dehydrogenase deficiency and phenylketonuria; see these terms).

Prenatal diagnosis is possible on the basis of enzymatic or molecular genetic testing.

Genetic counseling should be provided to affected families.

There is no effective treatment for congenital NCL.

The disorder leads to death within the first hours or days after birth.

Expert reviewer(s)

  • Pr Alfried KOHLSCHÜTTER

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Detailed information

Clinical genetics review
  • EN (2013)
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