The symptoms with the different types of the Niemann Pick illnesses strongly differ:
Type A
- The first symptoms shortly after the birth or in the first life months
- Strong Neugeborenengelbsucht (Neugeborenenikterus)
- Liquid aggregation in the free belly cave (abdominal dropsy or Aszites)
- Enlargement of the liver and the spleen (Hepatosplenomegalie)
- Delay of the physical development (Gedeihstörungen)
- Decreased muscle tension (Muskelhypotonie)
- Increasing loss already of learned abilities like running, to seats, speech
- Cherry-red Flecken in the eyes (with approx. to a third of the patients)
- More quickly physical and spiritual decay
- Life expectancy: 2 - 5 years
Type B
- Individually very variable illness course
- The first symptoms as a rule between the 10th and 12-th year
- Enlargement of the liver and the spleen (Hepatosplenomegalie)
- Irregularities in the blood count (Hämatologische anomalies)
- General infection susceptibility
- Lung illnesses (Pneumopathien, emphysema, interstitielle lung illness)
- Stunted growth
- Seldom neuro-logical problems
- Many affected persons reach the adult's age
Type C
- The first symptoms most often with children at the school age (nevertheless, till 6. Life decade possibly)
- Very typically: vertical Blickparese (with 90% of all affected persons in all age steps provably)
Symptoms at the baby or toddler age:
- Enlargement of the liver and the spleen (Hepatosplenomegalie)
- Liquid aggregation in the free belly cave (abdominal dropsy or Aszites)
- Strong Neugeborenengelbsucht (Neugeborenenikterus)
- Lung illnesses (Lungeninfiltrate, interstitielle lung illness)
- Decreased muscle tension (Muskelhypotonie)
- Psychomotor Entwicklungsverzögeurng
Symptoms at the school age:
- Learning difficulties with declining cognitive abilities
- Speech disturbances (Dysarthrie)
- Problems with the gulp (Dysphagie)
- Epilepsy (approx. with a third)
- Sudden loss of the muscular strength (Kataplexie, with approx. 20%)
- Disturbance of the movement coordination (Ataxie)
- Apraxie (neuro-logical motor disturbance)
- Enlargement of the liver and the spleen (Hepatosplenomegalie)
Symptoms with youngsters and adults:
- Psychiatric symptoms (depression or schizophrenia)
- Enlargement of the liver and the spleen (Hepatosplenomegalie)
- Disturbance of the movement coordination (Ataxie)
- Apraxie (neuro-logical motor disturbance)
- Speech disturbances (Dysarthrie)
- Problems with the gulp (Dysphagie)
For more information:
- Orphanet - The portal for rare diseases and Orphan Drugs
- Niemann-Pick-c.com (Actelion)
- Genetics Home Reference (U.S. National Library of Medicine, Dep. of Health and Human Services)
- University of Notre Dame (Indiana, USA)
Medical information on this website is maintained by Matthias Oetterli (journalist BR and father of an NPC patient). Information is checked by Dr. med . Marianne Rohrbach, Department of Metabolic Diseases, University Children's Hospital Zurich (CH).