Niemann-Pick disease is a genetic disease of the metabolism in which the deficiency of the lysosomal enzyme acid –can cause pathological accumulation of lipids in all body cells but mainly in the spleen, liver, lung, bone marrow and brain. The disease is rare, and occurs in all races and both sexes.



Niemann Pick disease is transmitted autosomal recessive, which means that both parents were heterozygous-had one gene mutation present (but clinically healthy carriers of the mutation) and one in four children (25%) - heterozygous-will "inherit" the mutation genes from both parents and will become a patient. The gene that encodes the synthesis is located at chromosome 11p. There have been identified 12 mutations that can cause Niemann-Pick disease type A and type B.

Niemann Pick disease symptoms - The Niemann Pick disease symptoms are varied and differ depending on the type of the disease. There are described four types of Niemann-Pick disease, of which only type A and B are determined by scarcity (types C and D are determined by abnormal transport of cholesterol to brain cells, with accumulation of cholesterol in lysosomes).

Type A Niemann-Pick disease is the most common (almost 80% of cases) and is characterized by a normal aspect of the child at birth, possibly prolonged jaundice. By the age of 6 months there is evidence of hepatic and spleen enlargement and psychomotor retardation; neuropsychological deterioration is rapidly progressive. Manifestations of this disease are:

Eye: "cherry-red spot" in 50% of patients; Respiratory: - recurrent respiratory infections; Lung: diffuse reticular and fine nodular infiltrate; Abdominal: the increase in volume of the abdomen; Liver: hepatomegaly, jaundice neonatal; Spleen: spleen enlargement; Gastrointestinal: vomiting, constipation, difficulty eating; Skeletal disorders: osteoporosis; Neurological: Central nervous system: hypotonia, hyporeflexia, psychomotor retardation; stiffness; Blood: - anemia; "Niemann-Pick cells" in bone marrow biopsy;

Type B Niemann-Pick disease can begin during the infant or child in a routine consultation, the spleen-hepatomegaly, which is progressive and leads to increase in volume of the abdomen, in time, the associated impairment of the lung may be severe; around the age of 15-20 years is normal. Patients with type C Niemann-Pick disease have often prolonged jaundice (up to age 1-2 years) and progressive neuropsychological slow deterioration.

The spleen-hepatomegaly is less important compared with types A and B disease and survival is possible up to adult age. Specific diagnosis of Niemann-Pick disease is determining by the level of activity in leukocytes fibroblast cultures, which is very low (below 5%). In some countries this investigation is not yet available. In the absence of specific examination, histopathological examination of various tissues obtained by liver puncture biopsy= may bring evidence in favor of the diagnosis by revealing Niemann-Pick cell.

Niemann-Pick disease can be present in other diseases such as: Wolman disease, storage disease cholesterol esters or lipoprotein-lipase deficiency. Hematological evaluation can detect a decrease in the number of platelets, white cells and red blood cells. Ophthalmologic examination may reveal, for half of the patients' red cherry spot. Analysis of mutations is possible in specialized laboratories (not yet available in some countries), specifying the mutation is useful for a patient to identify the carriers in their families at risk and prenatal diagnosis.