Niemann-Pick disease type A (NPD-A) is one of a group of autosomal recessive lysosomal lipid storage disorders (see Niemann-Pick disease) that presents in early childhood and usually progresses to death within a few years. It shares the same enzyme deficiency as Niemann-Pick disease type B (NPD-B) - acid sphingomyelinase deficiency - but is far more clinically aggressive with prominent neurological involvement. A spectrum of disease between type A and B are encountered.
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Epidemiology
NPD-A is inherited as an autosomal recessive disease. Clinical presentation is in infancy usually with hepatosplenomegaly followed by neurological manifestations.
Clinical presentation
Children most often present with hepatosplenomegaly which can be very pronounced and is usually apparent within the first three months of life 1.
Although initially neurologically intact with normal cognitive and motor development, deficits are usually apparent at 12-months of age. Following this affected children demonstrate progressive deterioration in multiple domains (cognitive, psychiatric, motor) 1.
Respiratory involvement is common 1. A classic cherry-red spot of the retina is eventually seen in all affected children 1.
Treatment and prognosis
In most cases, deterioration is progressive with death usually occurring before the third year 1.
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