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Niemann-Pick disease

Medical expert of the article

Hepatologist
, medical expert
Last reviewed: 17.10.2021

Neemann-Pick's disease is a rare family illness inherited by an autosomal recessive type and is found mainly in Jews. The disease is caused by a deficiency of the enzyme sphingomyelinase in the lysosomes of the cells of the reticuloendothelial system, which leads to the accumulation of sphingomyelin in lysosomes. Liver and spleen are mostly affected.

The type of inheritance of the Niemann-Pick disease is autosomal recessive, the most common this type of sphingolipidosis seems among Ashkenazi Jews; there are 2 types, A and B. Type C of Niemann-Pick disease is not an associated defect of enzymes, in which an abnormal accumulation of cholesterol occurs.

The cell has a characteristic appearance: pale, oval or round, with a diameter of 20-40 microns. In the non-fixed state, granules are visible in it; when fixed with fatty solvents, the granules dissolve, giving the cell a vacuolized and foamy appearance. Usually there is only one or two cores. With electron microscopic examination, the lysosomes are visible as lamellar myelin-like formations. They contain abnormal lipids.

trusted-source[1], [2], [3], [4], [5], [6], [7], [8]

Symptoms of Nyman-Pick disease

Niman-Pick's disease type A (acute neuronopathic form) occurs in children who die before reaching the age of 2. The disease begins in the first 3 months of life and is manifested by anorexia, weight loss and growth retardation. The liver and spleen are enlarged, the skin becomes waxy and acquires a yellowish-brown coloration on the exposed parts of the body. Surface lymph nodes are enlarged. In the lungs there are infiltrates. Blindness, deafness and mental disorders are noted.

On the fundus there are cherry-red spots appearing due to macular degeneration in the macula.

Peripheral blood analysis reveals microcytic anemia, and at later stages, Niemann-Peak foam cells can be detected.

The disease can first appear intermittent cholestatic jaundice of newborns. As the child develops, neurological disorders occur.

Neemann-Pick's disease type B (a chronic form that proceeds without affecting the nervous system) is manifested by cholestasis of the newborns, which is resolved spontaneously. Cirrhosis develops gradually and can lead to the development of portal hypertension, ascites and liver failure. The cases of successful liver transplantation, made in connection with liver failure, are described. Although no evidence of lipid deposition in the liver was found during the 10-month follow-up, a longer time is required to assess the outcome for metabolic disorders.

The syndrome of sea-borne histiocytes

A similar condition of the Niemann-Pick disease is manifested by the presence of the histiocytes in the bone marrow and reticuloendothelial liver cells that acquire the color of the sea wave when painting Wright or Giemsa. The cells contain deposits of phosphosphingolipids and glucosphingolipids. There is an increase in the size of the liver and spleen. The prognosis of the disease is usually favorable, although cases of development of thrombocytopenia and liver cirrhosis are described in these patients. Perhaps this condition is one of the variants of the Niemann-Pick disease in adults.

Dementia with Pick's disease

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ICD-10 code

F02.0. Dementia with Pick's disease (G31.0 +).

Beginning in middle age (usually between 50 and 60 years) progressive dementia of the neurodegenerative type, based on selective atrophy of the frontal and temporal lobes with a specific clinical picture: the prevailing frontal symptomatology with euphoria, a rough change in the social stereotype of behavior (loss of sense of distance, tact, moral attitudes, the detection of disinhibition of lower impulses), early gross violations of criticism in conjunction with progressive dementia. Speech disorders (stereotypes, impoverishment of speech, decreased speech activity to speech aspotannosti, amnestic and sensory aphasia) are also characteristic.

For diagnosis, the clinical picture of dementia of the frontal type is important - anticipating the prevalence of the prevailing frontal symptomatology with euphoria, a coarse change in the social stereotype of behavior combined with progressive dementia, while the "instrumental" functions of the intellect (memory, orientation, etc.), automated forms of mental activity are less .

As dementia progresses, focal cortical disorders take an increasing place in the picture of the disease, primarily speech disorders: speech stereotypes ("standing riots"), echolalia, gradual vocabulary, semantic, grammatical speech impairment, decreased speech activity to complete speech aspiration, amnestic and sensory aphasia. Growth is inactivity, indifference, aspontaneity; in some patients (with a primary lesion of the basal cortex) - euphoria, disinhibition of lower impulses, loss of criticism, gross violations of conceptual thinking (pseudoparalytic syndrome).

Psychoses for patients with dementia of the peak are not characteristic.

Neurological disorders in patients manifest Parkinson-like syndrome, paroxysmal muscular atony without loss of consciousness. For the recognition of the dementia of the peak, the results of a neuropsychotic study are important: the presence of signs of aphasia (sensory, amnestic speech stereotypes, changes in speech activity, specific abnormalities of the letter (the same stereotypies, impoverishment, etc.), aspontaneity.In the initial stages of the disorder, the results of neuropsychological research were of low specificity The results of a neurophysiological study are also not very specific for the diagnosis of Peak's dementia: a general decrease in bioelectric a ciency of the brain.

Peak dementia should be differentiated with other variants of dementia - this problem is relevant at the initial stages of the disease.

Patients need care and supervision at the earliest stages of dementia due to gross violations of behavior and emotional-volitional disorders at the onset of the disease. Treatment of productive psychopathological disorders is performed according to the standards of treatment of the corresponding syndromes in elderly patients. The use of neuroleptic drugs is very cautious. It is necessary to work with family members of the patient, psychological support of people caring for the patient, in connection with the characteristic for the patients gross violations of behavior, requiring great efforts from a close environment.

The prognosis of the disease is unfavorable.

Diagnosis of Niman-Pick disease

The diagnosis is established on the basis of a bone marrow puncture that reveals the characteristic Niemann-Pick cells, or on the basis of a decreased level of sphingomyelinase in leukocytes. Both types are usually suspected on the basis of anamnesis and examination results, the most notable being hepatosplenomegaly. The diagnosis can be confirmed by the study of sphingomyelinase in leukocytes and delivered prenatally using amniocentesis or chorion biopsy.

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Treatment of Niman-Pick disease

Treatment of Dementia Peak is ineffective. Bone marrow transplantation was performed in patients with early manifestation of severe liver damage; preliminary results were promising. A decrease in the content of sphingomyelin in the liver, spleen and bone marrow was noted.


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