The Clinical Signs and Symptoms of Types A and B NPD

Type A NPD begins in the first few months of life. Symptoms may include: feeding difficulties, a large abdomen within 3 to 6 months, and progressive loss of early motor skills. Generally, there is a very rapid decline in the child after 6 months leading to death by two to three years of age.

In contrast, the onset and severity of Type B NPD is very variable. Abdominal enlargement may be detected in early childhood, but not necessarily. The abdominal enlargement may eventually be quite severe in some patients, but remain barely noticeable in others. In general, the abdominal enlargement becomes less noticeable as the patient becomes older. There are usually few neurological problems associated with Type B NPD, and the patients have normal intelligence. Some patients may develop repeated respiratory infections and breathing problems, however, and also may be a little shorter than their non-affected brothers and sisters. The life expectancy of Type B NPD patients is highly variable depending on the severity of their symptoms.

Type C NPD 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, a large spleen and/or liver, difficulty with upward and downward eye movement (highly suggestive of Type C NPD), clumsiness and problems in walking, difficulty in controlling limb movement, slurred, irregular speech, learning difficulties, and other neurological abnormalities. The life expectancy of Type C NPD patients is also variable depending of the severity of the symptoms, but a shortened lifespan usually occurs.