NIMANNA-PIKA DISEASE (A. Niemann, is mute. pediatrician, 1880 — 1921; L. Pick, is mute. pathologist, 1868 — 1935; synonym: the lipoidosis is fosfatidny, a lipoid and cellular spleio-hepatomegalia, a sfingomiyelinovy lipoidosis, a histiocytosis lipoid) — the disease caused by an inherited disorder of lipid metabolism (sfingofosfolipid) at Krom occurs accumulation of sphingomyelin in a liver, a brain, a spleen, adrenal glands, kidneys, lymph nodes, skin and mononuclear blood cells.
It is for the first time described by Nimann in 1914; The Peak in 1922 gave a wedge, and tsitol, the characteristic of a disease, having indicated its differences from others lipidoses (see).
An etiology and a pathogeny
Nimanna-Pika a disease — a hereditary disease with autosomal and recessive type inheritance (see). Frequency of a disease of boys and girls is identical.
N.'s pathogeny — P. it is connected with insufficiency in fabrics of a sphingomyelinase — the acid lysosomic hydrolase which is carrying out hydrolytic decomposition sphingomyelin (see). At insufficiency of a sphingomyelinase the normal catabolism of sphingomyelin is broken and there is its accumulation in fabrics. A possibility of excess synthesis of sphingomyelin at N. — P. experimentally was not confirmed, but completely it is not excluded yet. Content of sphingomyelin at patients in bark and white matter of a brain can increase by 1,5 — 2 times in comparison with norm. Increase in maintenance of this lipid is found also in cerebrospinal liquid.
On opening find sharp increase in the sizes of a liver, spleen, limf. nodes, adrenal glands with coloring of their fabric in yellow color. The depigmentation or yellowish-brown coloring of skin is sometimes noted.
Histologically in tissues of internals come to light large (to dia. 30 — 60 microns), an oval form macrophages — so-called cells of Peak. They contain from one to four kernels, cytoplasm their foamy due to accumulation of small drops of a sfingomnelin (fig). Cells of Peak are well painted by Sudan III, osmium, nilblausulfaty and other dyes, give positive reaction of Smith — Dietrich, being painted in black-blue color. A large number of cells of Peak is found in a liver; they are presented by star-shaped retikuloendoteliotsita (ku-iferovsky cells) increased in sizes, cytoplasm them is filled with drops of fat. In a spleen limf, follicles are not defined, its pulp diffuzno of an infiltrirovan by cells of Peak, hemorrhages, zones of a necrosis at various stages of the organization, sites of scarring meet. In adrenal glands of accumulation of cells of Peak find hl. obr. in a medulla. In nights of a cell of Peak meet seldom, in a nefroteliya fatty dystrophy is expressed.
In neurons and glial cells of a brain, especially in a cerebellum, sphingomyelin is laid that gives to these cells not inherent to them normal morfol, similarity. Sphingomyelin can be found out of cells of Peak, napr, in heart muscle fibers and valves of heart, in alveoluses and in peribronchial cellulose easy, cross-striped muscles, sheaves, joints.
In nek-ry cases preferential damage of a bone tissue is noted, to-rogo regional uzura and through defects in bones of a calvaria result. Histologically diffusion infiltration of marrow cells of Peak and thinning of compact substance of a bone comes to light.
A clinical picture
N. — P. it is shown at chest age, it is preferential in the first half of the year; isolated cases are described at more advanced age (a juvenile form H. — P., at a cut the leading sign is gepato-also the splenomegaly without the expressed cerebral manifestations). Initial symptoms are failure of the child from food and periodic vomiting. Then there occurs sharp weight loss with development of a hypotrophy, the delay of psychophysical development is noted. Gradually the sizes of a liver and spleen increase, at a palpation they dense, with a smooth surface, painless; later ascites develops. Peripheral limf, nodes can be also increased. Integuments have a wax shade with sites of the strengthened pigmentation. Often there are signs of disturbance of pyramidal system as a result of defeat of c. N of page (motive frustration, e.g. spastic paresis of extremities, increase in a tone of muscles and tendon jerks). Further hypotonia of muscles, a hyporeflexia develops, sharp lag of the child is expressed in mental development, the idiocy, a blindness, deafness develop. At many patients the atrophy of optic papillas otkhmechatsya and the cerise speck of an oval form in macular area is found. N — P. can proceed with preferential defeat of a nervous system, a liver, spleen.
In blood hypochromia anemia of moderate degree, thrombocytopenia, a leukopenia with existence of vacuolated lymphocytes is often noted; content of free cholesterol is increased, fluctuations of concentration of a sfppgomtselin are noted; activity of an alkaline phosphatase within norm.
the Diagnosis is established on the basis by a wedge, pictures (damage of a liver, spleen, a nervous system, characteristic changes of an eyeground) and data of a laboratory research. At tsitol, a research of the material received at a puncture of a spleen, liver, marrow and limf, nodes, find cells of Peak.
Radiological in bones the osteoporosis is noted (see. Osteoporosis ). The final diagnosis of N. — P. it can be put only after detection of insufficiency of a sphingomyelinase in tissues of the patient. Usually for this purpose use culture of fibroblasts of skin, in a cut define extent of splitting of marked 140th sphingomyelin.
Differential diagnosis carry out with a disease to Gosha, at a cut in a spleen, a liver and bones glucocerebroside is laid (see. to Gosha disease ), with a disease Teja — the Saxophone, at a cut occurs accumulation of gangliosides in nervous tissue (see. Amaurotic idiocy ), with Letterer's disease — Siwa (see. Letterera — Siwa a disease ), cirrhosis (see. Cirrhoses of a liver ), lymphogranulomatosis (see).
Treatment, the Forecast, Profplaktika
Specific treatment is not developed. Use of hormonal drugs, vitamins, hemotransfusion and plasmas gives only symptomatic effect.
Forecast adverse. The disease quickly leads to exhaustion and a lethal outcome owing to intercurrent diseases (pneumonia is more often). Survival is later than five-year age extremely seldom.
Profplaktika: at burdened according to N. — P. heredity needs to investigate at each pregnancy an amniotic fluid for the purpose of prenatal diagnosis of P. — And. or to refrain from a child-bearing.
Bibliography: Andreyev I. and d river. Differential diagnosis of the major symptoms of children's diseases, the lane with bolg., page 202, etc., Plovdiv, 1977; Badalyan L. O., Tabolin V. A. and In e of l t and shch e in 10. E. Hereditary diseases at children, page 78, M., 1971; To e r-p e of l - F r about N and at with E. Pediatriya, the lane with Wenger., page 218, Budapest, 1975; Potter E. Pathological anatomy of fruits, newborns and children of early age, the lane with English, page 87, M., 1971; Holes floors with to and I am O. A. Bolezn Nimanna — Peak (type B on Crocker), Arkh. patol., t. 39, century 6. page 55, 1977; Van B about-g an e of t L. La maladie de Niemann — Pick et ses rapports avec les idioties amauroti-ques, Rev. med. Liege, t. 17, p. 333, 1962; Niemann A. Ein unbekanntes KranJv kheitsbild, Jb. Kinderheilk., Bd 29, S. 1, 1914; Pick L. Zur pathologischen Ana-tomie des Morbus gaucher, Med. Klin., Bd 18, S. 1423, 1922.
L. A. Makhonova; G. M. Mogilevsky (stalemate. An.).