Niemann-Pick
Alternate Names : Sphingomyelinase Deficiency (Type A Niemann-Pick Disease)
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Niemann-Pick Symptoms & Signs
Type A Niemann-Pick begins in the first few months of life. Symptoms may include:
- Feeding difficulties
- A large abdomen within 3 to 6 months
- Progressive loss of early motor skills
- Cherry red spot in the eye
Type B is biochemically similar to Type A, but the symptoms are more variable. Abdominal enlargement may be detected in early childhood, but there is almost no neurological involvement, such as loss of motor skills. Some patients may develop repeated respiratory infections.
Type C Niemann-Pick usually affects children of school age, but the disease may strike at any time from early infancy to adulthood. Symptoms may include:
- Jaundice at (or shortly after) birth
- An enlarged spleen and/or liver
- Difficulty with upward and downward eye movements (Vertical Supranuclear Gaze Palsy)
- Unsteadiness of gait, clumsiness, problems in walking (ataxia)
- Difficulty in posturing of limbs (dystonia)
- Slurred, irregular speech (dysarthria)
- Learning difficulties and progressive intellectual decline (dementia)
- Sudden loss of muscle tone which may lead to falls (cataplexy)
- Tremors accompanying movement and, in some cases, seizures
Symptoms of all forms of Niemann-Pick are variable -- no single symptom should be used to include or exclude Niemann-Pick as a diagnosis. A person in the early stages of the disease may exhibit only a few of the symptoms. Even in the later stages of the disease, not all symptoms may be present.
In addition, symptoms are progressive but the rate of progression is different from person to person. Finally, the symptoms of Niemann-Pick are also found in other, more common, diseases. These factors make it difficult to diagnose Niemann-Pick without appropriate testing.
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