NIEMANN-PICK DISEASE, TYPE C 1

Subtype of NIEMANN-PICK DISEASE

Niemann-Pick disease (NPD) is a group of genetic diseases, autosomal recessive with variable systemic involvement, associated with splenomegaly and neurological involvement by sphingomyelin storage. NPD disease is classified into 3 sub-types: types A, B and C. Niemann-Pick type C (NP-C) is caused by the accumulation of lipids (fat molecules, such as cholesterol and gangliosites) by mutations in the NPC1 gene or NPC 2, located on chromosome 18. The systemic involvement of the liver, spleen or lung is present in over 85% of patients preceding the development of neurological symptoms. NPD type C is a fatal inherited trait and progressive symptoms leading to severe neurologic involvement and potentially fatal.
Hepatic
Fatal liver failure in infancy
Neurologic Abnormality
Ataxia
Behavioral problems
Cataplexy
Dementia
Developmental delay
Dysarthria
Dystonia
Loss of speech
Mental deterioration
Neurofibrillary tangles
Neuronal loss, particularly of cerebellar Purkinje cells
Poor school performance
Psychosis
Spasticity
Vertical supranuclear gaze palsy
Metabolic Abnormality
Abnormal cholesterol homeostasis 
Low cholesterol esterification rates
Neonatal jaundice
Normal or mildly reduced sphingomyelinase activity
Gastrointestinal
Dysphagia
Hepatomegaly
Splenomegaly
Hematologic
Foam cells on bone marrow biopsy