Niemann-Pick Disease, Type C2

Clinical Characteristics
Ocular Features: 

The primary ocular feature of type C2 Niemann-Pick disease is supranuclear gaze palsy.  A cherry red spot is rarely seen. 

Systemic Features: 

Neurodegeneration is the outstanding clinical manifestation and often the cause of death.  The onset usually occurs in infancy and the course is rapid with death often in the first year of life.  The clinical disease is similar to that of the more common type C1 (257220) although there is considerable clinical heterogeneity in all types of NPC.  Pulmonary involvement can be a prominent feature of C2 disease.  Other neurologic symptoms include ataxia, facial dyskinesis, bradykinesia, expressive aphasia, dysarthria and cognitive decline.  Visceromegaly seems to be less common than in type C1 (257220).  Cholesterol esterification is impaired with accumulation in intracellular organelles. 


Like other types of NPC disease, this disorder follows an autosomal recessive pattern of inheritance.  It results from mutations in the NPC2 gene (14q24.3).  These mutations are far less common than those in the NPC1 (257220)gene.  

Autosomal recessive
Treatment Options: 

Treatment is available for symptoms such as seizures and dystonia.  Good pulmonary hygiene is important and precautions should be taken to prevent aspiration. 

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