Lysomale Speichererkankung

The Chameleon

M. Niemann-Pick Typ C

In Niemann-Pick disease type C, a defect in the NPC1 gene (approximately 95% of cases) or in the NPC2 gene (approx. 5% of cases) leads to impaired intracellular cholesterol trafficking and consecutive to accumulation of unesterified cholesterol in the cells of various organs. The age of manifestation extends from the perinatal period to late adulthood. Clinical symptoms are very heterogeneous. In addition to visceral signs – consisting of a splenomegaly or hepatosplenomegaly – neurological symptoms, such as progressive cerebellar ataxia, dysarthria, vertical supranuclear gaze palsy, epilepsy, cataplexy and progressive dementia are characteristic. For the treatment of progressive neurological symptoms, substrate reduction therapy with miglustat is currently available.

M. Niemann-Pick Typ C | SphinCS - Clinical Science for LSD

Synonym: Disordered intracellular lipid transport
Gene: NPC1 Gene; NPC2 Gene
Mode of inheritance: Autosomal recessive
Phenotypes:

  • Pre-/perinatal 
  • Early-infantile
  • Late-infantile
  • Juvenile
  • Adult 

Leading symptoms:

Pre-/perinatal
(Age of onset: < 2 months)

  • Fetal ascites/ Hydrops fetalis
  • Hepatosplenomegaly
  • Cholestatic Hepatopathy (Icterus prolongatus)
  • Muscular hypotonia
  • Pulmonale manifestation (NPC2)

Early-infantile
(Age of onset: 2 months to 1 year)

  • Hepatosplenomegaly or isolated splenomegaly
  • Psychomotor development delay/arrest
  • Spasticity
  • Vertical supranuclear gaze palsy

Late-infantile
(Age of onset: 2 months to 1 year)

  • Hepatosplenomegaly or isolated splenomegaly
  • Psychomotor development delay
  • Progressive Ataxie
  • Vertical supranuclear gaze palsy
  • Epilepsie
  • Cataplexy

Juvenil
(Age of onset: 6-15 years)

  • Hepatosplenomegaly or isolated splenomegaly
  • Cognitive decline
  • Progressive ataxia
  • Vertical supranuclear gaze palsy
  • Dystonia
  • Epilepsy
  • Cataplexy

Adult
(Age of onset: > 15 years)

  • Cognitive decline
  • Psychiatric symptoms
  • Vertical supranuclear gaze palsy
  • Progressive ataxia
  • Dystonia

Diagnostics:

  • Oxysterols in plasma (screeningparameter, also elevated in LAL-D and ASMD)
  • Lyso-sphingomyelin 509
  • Molecular genetic analysis of NPC1 / NPC2 Gene

Therapy:
Miglustat (Substrate reduction therapy)

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