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.
Type A Niemann-Pick begins in the first few months of life. Symptoms may include:
a large abdomen within 3 to 6 months
liver or spleen enlargement
cherry red spot in the eye
feeding difficulties
progressive loss of early motor skills
(generally) a very rapid decline leading to death by two to three years of age
Type B is biochemically similar to Type A but the symptoms are more variable. Neurological involvement, such as loss of motor skills, is slight to none. Common symptoms usually appear in infancy or childhood. Progression of Type B is generally much slower than with Type A and many people live into adulthood.
liver or spleen enlargement
cherry red spot in the eye
shortness of breath (may require oxygen)
repeated lung 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
psychiatric problems of unknown cause in teens and adults
Type C is the most variable form of the disease. Symptoms may appear and then disappear. Some symptoms may never appear. The rate the disease progresses is different from person to person. The rate of progress for an individual will change over time.
Type C is often incorrectly diagnosed. Some of the common errors are:
Attention Deficit Disorder (ADD)
Learning Disability
Retardation
Delayed Development
Vertical Supranuclear Gaze Palsy (VSGP or VGP) is highly suggestive of Type C. VSGP is the inability to move the eyes up and down. Parents often notice this when their child walks up and down stairs, watches TV while sitting on the floor, or in similar situations - the child tilts their head to see instead of moving their eyes. Liver or spleen problems in the first few months after birth are also highly suggestive of Type C.
A non-technical summary of one child's case can be viewed here. Please remember that each case is unique and your child may have different symptoms or a different rate of progress.
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: