Niemann-Pick Disease

Definition

Niemann-Pick disease refers to a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain.

There are four most commonly recognized forms of the disease: Types A, B, C, and D. Types A and B are also called Type I. Types C and D are also known as Type II.

Each type involves different organs and may or may not involve the central nervous system or respiratory system. Each one can cause different symptoms and may occur at different times throughout life, from infancy to adulthood.

Symptoms

Type A usually begins in the first few months of life. Symptoms may include:

• Abdominal (belly area) swelling within 3 - 6 months
• Cherry red spot in the eye
• Feeding difficulties
• Loss of early motor skills (gets worse over time)

Type B symptoms are usually milder and occur in late childhood or adolescence. Abdominal swelling may be seen in early childhood, but there is almost no neurological involvement, such as loss of motor skills. Some patients may have repeated respiratory infections.

Type C usually affects school-aged children, but the disease may occur any time between early infancy to adulthood. Symptoms may include:

• Difficulty in posturing of limbs (dystonia)
• Enlarged spleen
• Enlarged liver
• Jaundice at (or shortly after) birth
• Learning difficulties and progressive intellectual decline (dementia)
• Seizures
• Slurred, irregular speech
• Sudden loss of muscle tone which may lead to falls (cataplexy)
• Tremors
• Trouble moving the eyes up and down (vertical supranuclear gaze palsy)
• Unsteady gait, clumsiness, walking problems (ataxia)

Symptoms of Type D are similar to Type C.

Type E occurs in adults. Symptoms include swelling of the spleen and neurological problems. Little is known about this rare type of Niemann-Pick disease.

Symptoms and disease progression of all forms of Niemann-Pick vary from person to person. No single symptom should be used to include or exclude Niemann-Pick as a diagnosis. Other, more common, diseases may cause symptoms similar to Niemann-Pick.

A person in the early stages of the disease may show only a few symptoms. Not every symptom will be seen in the later stages of the disease.