Niemann-Pick disease (redirected from Niemann-Pick's disease)

Niemann-Pick disease

n.

An inherited disorder of lipid metabolism characterized by gastrointestinal disturbances and enlargement and abnormalities of blood-forming organs; it occurs primarily in infants of eastern European Jewish descent and it leads to early death. Also called Pick's disease², sphingomyelin lipidosis.

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Niemann-Pick disease

[nē′mon pik′]

Etymology: Albert Niemann, German pediatrician, 1880-1921; Ludwig Pick, German pediatrician, 1868-1935

an inherited disorder of lipid metabolism in which there are accumulations of sphingomyelin in the bone marrow, spleen, and lymph nodes. The disease, which in the United States and Canada is most common among Jewish people, begins in infancy or childhood and is characterized by enlargement of liver and spleen, anemia, lymphadenopathy, and progressive mental and physical deterioration. There is no effective treatment, and children with the disease usually die within a few years of the onset of symptoms. See also sphingomyelin lipidosis.

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disease(s) (dizēz´),

n a definite deviation from the normal state characterized by a series of symptoms. Disease may be caused by developmental disturbances, genetic factors, metabolic factors, living agents, or physical, chemical, or radiant energy, or the cause may be unknown.

disease, Adams-Stokes (Adams-Stokes syndrome),

n.pr a disease characterized by a slow and perhaps irregular pulse, vertigo, syncope, occasional pseudoepileptic convulsions, and Cheyne-Stokes respirations.

disease, adaptation (adaptation syndrome),

n the metabolic disorders occurring as a result of adaptation or resistance to severe physical or psychologic stress. See also syndrome, general adaptation.

disease, Addison's,

n.pr a chronic adrenocortical insufficiency caused by bilateral tuberculosis, aplasia, atrophy, or degeneration of the adrenal glands. Symptoms include severe weakness, weight loss, low blood pressure, digestive disturbances, hypoglycemia, lowered resistance to infection, and abnormal pigmentation (bronze color of the skin, with associated melanotic pigmentation of the oral mucosa, especially of the gingival tissues).

disease, adrenocortical,

n the disorders of adrenocortical function, giving rise to Addison's disease, Cushing's syndrome, adrenogenital syndrome, and primary aldosteronism.

disease, Albers-Schönberg,

n.pr See osteopetrosis.

disease, autoallergic,

n See disease, autoimmune.

disease, autoimmune (autoallergic disease, autoimmunization syndrome, chronic hypersensitivity),

n a disease that is believed to be caused in part by reactions of hypersensitivity of the host tissue (antigens). Includes various hemolytic anemias, idiopathic thrombocytopenias, rheumatoid arthritis, systemic lupus erythematosus, glomerulonephritis, scleroderma, Hashimoto's thyroiditis, and Sjögren's syndrome.

disease, Barlow's,

n.pr See scurvy, infantile.

disease, Basedow's,

n.pr See goiter, exophthalmic.

disease, Behçet's,

n.pr See syndrome, Behçet's.

disease, Besnier-Boeck-Schaumann,

n.pr See sarcoidosis.

disease, bleeder's,

n See hemophilia.

disease, blood,

n a disease affecting the hematologic system (e.g., anemia, leukemia, agranulocytosis purpura, infectious mononucleosis). Such a disease often results in lesions of the oral structures, particularly the mucosal surfaces.

disease, Bowen's,

n.pr See carcinoma in situ.

disease, Brill-Symmers,

n.pr See lymphoblastoma, giant follicular.

disease, brittle bone,

n See osteogenesis imperfecta.

disease, Caffey's,

n.pr See hyperostosis, infantile cortical.

disease, Cannon's,

n.pr See nevus, white sponge.

disease, cardiac,

n a disease affecting the heart.

disease, cat-scratch,

n a granulomatous disease caused by
B. henselae that occurs at the site of a scratch or bite of a house cat. Local lesions occur at the site of injury with a regional adenitis that is out of proportion to the primary lesion occurring within 1 to 3 weeks. Systemic symptoms of infection may occur. Diagnosis is confirmed by serologic tests.

Cat-scratch disease.

disease, celiac,

n See celiac sprue.

disease, Cheadle's,

n.pr See scurvy, infantile.

disease, Christmas,

n.pr See hemophilia B.

disease, chronic hypersensitivity,

n See disease, autoimmune.

disease, chronic obstructive pulmonary (COPD),

n a disease marked by decreased expiratory flow rates resulting in increased total lung capacity. Patients with this condition are prone to acute respiratory failure from infections or general anesthesia.

disease, collagen (group disease, visceral angiitis)

(kol´jin),
n a group of diseases affecting the collagenous connective tissue of several organs and systems. These diseases have similar biochemical structural alterations and include rheumatic fever, scleroderma, rheumatoid arthritis, systemic lupus erythematosus, periarteritis, and serum sickness.

diseases, communicable,

n a disease that may be transmitted directly or indirectly to a well person or animal from an infected person or animal. A disease with the capacity for maintenance by natural modes of spread (e.g., by contact, by airborne routes, through drinking water or food, by arthropod vectors).

disease, congenital,

n a disease present at birth, or, more specifically, one that is acquired in utero.

disease, Coxsackie A,

n.pr See herpangina.

disease, Crouzon,

n.pr See syndrome, Crouzon.

disease, Cushing's,

n.pr hypercortisolism that results from an adrenal or pituitary neoplasm. The term
Cushing's syndrome refers to hypercortisolism that is not related to an endogenous process.

disease, cytomegalic inclusion, generalized,

n See disease, salivary gland.

disease, Darier's (keratosis follicularis),

n.pr an apparently genetic dermatologic disease that also involves mucous membranes. The oral lesions are whitish papules of the gingiva, tongue, or palate. It is characterized histologically by the presence of corps ronds.

disease, deficiency,

n a disturbance produced by lack of nutritional or metabolic factors. Used mainly in reference to avitaminosis.

disease, degenerative joint,

n See osteoarthritis.

disease, dermatologic,

n a disease affecting the skin; often accompanied by pathologic manifestations of various mucosal surfaces (e.g., the oral mucosa, genital mucosa, conjunctiva).

disease, end-stage,

n the last phase of an illness, at which point the patient's life is gravely endangered.

disease, Engman's,

n.pr See dermatitis infectiosa eczematoides.

disease, exanthematous

n a group of diseases caused by a number of viruses but having as a prominent feature a skin rash (e.g., smallpox, chickenpox, cowpox, measles, rubella).

disease, familial,

n a disease occurring in several members of the same family. Often used to mean members of the same generation and occasionally used synonymously with hereditary disease.

disease, Feer's,

n.pr See erythredema polyneuropathy and acrodynia.

disease, fibrocystic (mucoviscidosis)

(fī´brōsis´tik mū´kōvis´idō´sis),
n a hereditary defect of most of the exocrine glands in the body, including the salivary glands. The secretion of the affected mucous glands is abnormally viscous.

disease, fifth,

n a viral infection caused by the human parvovirus B19; spread via the upper respiratory tract, this virus impacts on children more strongly than adults. Also called
erythema infectiosum.

disease, Fordyce's,

n.pr See Fordyce granules.

disease, functional,

n a disease that has no observable or demonstrable cause.

disease, Gaucher's

(gôshāz´),
n.pr a constitutional defect in the metabolism of the cerebroside kerasin. This glycoprotein accumulates in the reticuloendothelial system and leads to splenomegaly, hepatomegaly, lymph node enlargement, and bone defects.

disease, graft-versus-host (GVHD),

n a potentially deadly condition resulting from allogenically transplanted hematopoietic cells that reject host cells in the transplant recipient. In early stages, this condition may result in lichenoid and erosive lesions on the oral mucosa.

disease, Graves',

n.pr See goiter, exophthalmic.

disease, hand-foot-and-mouth (aphthous fever, epidemic stomatitis, epizootic stomatitis)

(af´ths),
n primarily a disease of animals caused by a filterable virus that may be transmitted to humans and that occasionally produces symptoms. The human form is characterized by fever, nausea, vomiting, malaise, and ulcerative stomatitis. Skin lesions consisting of vesicles may appear, usually on the palms of the hands and soles of the feet. Spontaneous regression usually occurs within 2 weeks.

Hand, foot, and mouth disease.

disease, Hand-Schūller-Christian (chronic disseminated histiocytosis X),

n.pr a type of cholesterol lipoidosis characterized clinically by defects in membranous bones, exophthalmos, and diabetes insipidus.

disease, Hansen's,

n.pr See leprosy.

disease, heart,

n an abnormal condition of the heart (organic, mechanical, or functional) that causes difficulty.

disease, heart, arteriosclerotic,

n a variety of functional changes of the myocardium that result from arteriosclerosis.

disease, heart, congenital,

n a defective formation of the heart or of the major vessels of the heart.

disease, heart, ischemic

(iskē´mik),
n a heart condition in which an inadequate supply of oxygenated blood reaches the heart, resulting in damage to the heart muscle; it is usually caused by atherosclerosis, a buildup of fatty plaque deposits in the main coronary arteries that leads to narrowing or hardening of the arteries. Symptoms include chest pain or discomfort (angina pectoris), ventricular fibrillation, heart attack (myocardial infarction), or sudden death. Also known as
coronary artery disease and
coronary heart disease.

disease, heart, rheumatic,

n a scarring of the endocardium resulting from involvement in acute rheumatic fever. The process most often involves the mitral valve.

disease, heart, thyrotoxic

n cardiac failure occurring as the result of hyperthyroidism or its superimposition on existing organic heart disease. Thyrotoxicosis is an important cause of auricular fibrillation.

disease, hemoglobin C,

n a disease resulting from an abnormal hemoglobin (hemoglobin C); occurs primarily in African Americans and causes a mild normochromic anemia, target cells, and vague, intermittent arthralgia.

disease, hemolytic, of newborn,

n a hemolysis caused by isoimmune reactions associated with Rh incompatibility or with blood transfusions in which there is an incompatibility of the ABO blood system. Several forms of the disease occur: erythroblastosis fetalis, congenital hemolytic disease, icterus gravis neonatorum, and hydrops fetalis.

disease, hemophilioid

n a hemophilic states (conditions) that clinically resemble hemophilia (e.g., parahemophila, hemophilia B [Christmas disease]).

disease, hemorrhagic, of newborn

(hem´raj´ik),
n a hemorrhagic tendency in newborn infants occurring usually on the third or fourth day of life; believed to be caused by defects of prothrombin and factor VII, resulting from a deficiency of vitamin K.

disease, hereditary,

n a disease transmitted from parent to offspring through genes. Three main types of mendelian heredity are recognized: dominant, recessive, and sex-linked.

disease, hidebound,

n See scleroderma.

disease, Hodgkin,

n.pr See lymphoma, Hodgkin.

disease, hypersensitivity,

n See disease, autoimmune.

disease, iatrogenic

(īat´rjen´ik),
n a disease arising as a result of the actions or words of a health care professional.

disease, idiopathic

n a disease in which the etiology is not recognized or determined.

disease, infectious,

n the pathologic alterations induced in the tissues by the action of microorganisms and/or their toxins. Some infectious diseases involving the oral tissues are herpes zoster, herpetic gingivostomatitis, moniliasis, syphilis, and tuberculosis.

disease, inflammatory neoplastic,

n See granuloma; tumor, inflammatory.

disease, kissing,

n See mononucleosis, infectious.

disease, Langerhans cell (Langerhans cell histiocytosis),

n a group of three diseases identified by an abundance of Langerhans cells–eosinophils combined with histiocytic cells. See also disease, Letterer-Siwe; disease, Hand-Schūller-Christian; and granuloma, eosinophili.

disease, Letterer-Siwe

n.pr (acute disseminated histiocytosis X, nonlipid histiocytosis, nonlipid reticuloendotheliosis), a fatal febrile disease of unknown cause occurring in infants and children; characterized by focal granulomatous lesions of the lymph nodes, spleen, and bone marrow. Results in enlargement of the lymph nodes, spleen, and liver, defects of the flat and long bones, anemia, and sometimes purpura.

disease, lipoid storage (lipoidosis, reticuloendothelial granuloma)

(lip´oid ritik´ylōen´dōthē´lēl gran´ylō´m lipoidō´sis),
n group of diseases in which lipid substances accumulate in the fixed cells of the reticuloendothelial system. Included are Gaucher's disease, Niemann-Pick disease, and the Hand-Schūller-Christian disease complex. Other storage diseases include lipochondrodystrophy (gargoylism) and cerebral sphingolipidosis.

disease, Lobstein's,

n.pr See osteogenesis imperfecta.

disease, macrovascular,

n a disease of the large blood vessels, including the aorta, and coronary arteries. Fatty plaque buildup and thrombosis formation in these vessels may lead to a myocardial infarction, cerebral infarction, and circulation problems in the limbs. It is often a complication of long-term diabetes.

disease, Marie's,

n.pr See acromegaly.

disease, Mediterranean,

n.pr See thalassemia major.

disease, metabolic bone,

n.pl the diseases of the bone which may be attributed to cellular changes or to nutritional deficiencies/excesses brought on by dietary imbalances. These include hyperparathyroidism, osteoporosis, osteomalacia, rickets, and the many diseases associated with an abnormal abundance of Langerhans cells.

disease, Mikulicz'

(mik´ūlich´z),
n.pr a benign hyperplasia of the lymph nodes of the parotid or other salivary glands and/or the lacrimal glands.

disease, Moeller's,

n.pr See scurvy, infantile.

disease, molecule,

n a disease associated with genetically determined abnormalities of protein synthesis at the molecular level.

disease, muscle,

n the pathologic muscle tissue changes that can lead to disease. Such changes reveal few structural alterations, and the highly differentiated contents of muscle fibers tend to react as a whole. The pathologic features that distinguish one muscle disease from another are the age and character of changes within a muscle, distribution of those changes within one or several muscles, presence of inflammatory cells and parasites, and coexistence of pathologic changes in other organs. Muscles undergo a number of degenerative changes. There are alterations in the striation in certain pathologic states caused by cloudy swelling, granular degeneration, waxy or hyaline degeneration, and other cellular modifications such as multiplication of the sarcolemmic nuclei and phagocytosis of muscle fibers.

disease, neuromuscular,

n a condition in which various areas of the central nervous system are affected; results in dysfunction or degeneration of the musculature and disabilities of the organ.

disease, Niemann-Pick

n.pr a congenital, familial disorder occurring mainly in Jewish female infants that terminates fatally before the third year and is characterized by the accumulation of the phospholipid sphingomyelin in the cells of the reticuloendothelial system.

disease, oral, hereditary,

n the heritable defects of oral and paraoral structures (excluding the dentition) without generalized defects; includes ankyloglossia, hereditary gingivofibromatosis, and possibly cleft lip and cleft palate. Many oral and paraoral defects are associated with generalized defects (e.g., Peutz-Jeghers, Franceschetti, Ehlers-Danlos, Pierre Robin, and Sturge-Weber syndromes; hemorrhagic telangiectasia; Crouzon's disease; sickle cell disease; acatalasemia; white spongy nevus; xeroderma pigmentosum; gargoylism; neurofibromatosis; familial amyloidosis; and achondroplasia).

disease, oral manifestations of systemic,

n the lesions in association with systemic disease, often influenced by the local environmental factors within the oral cavity.

disease, organic,

n a disease in which actual structural changes have occurred in the organs or tissues.

disease, Osler's,

n.pr See erythremia.

disease, Owren's,

n.pr See parahemophilia.

disease, Paget's, of bone (osteitis deformans),

n.pr a bone disease characterized by thickening and bowing of the long bones and enlargement of the skull and maxillae. It is represented radiographically by a cotton-wool appearance of the bone and microscopically by a mosaic bone pattern with so-called reversal lines. Hypercementosis and loosening of the teeth may be significant manifestations. Increased serum alkaline phosphatase may be an early finding.

Paget's disease of the bone.

disease, Parkinson's,

n.pr a progressive neurologic disorder for which there is no known cure that is thought to be the result of neuron degeneration in the section of the brain controlling spontaneous movement and balance. The disease causes postural changes, tremors, muscle rigidity, and weakness. Oral manifestations include difficulty in swallowing and excess salivation.

disease, periodic,

n See disorder(s), periodic.

disease, periodontal

n a disturbance of the periodontium. Diseases affecting the periodontium include aggressive and necrotizing types, as well as gingivitis. Etiologic factors may be local or systemic or may involve an interplay between the two. Periodontal diseases may be involved in increasing the risk and course of systemic diseases.

disease, periodontal, etiologic factors of,

n.pl the local and systemic factors, singly or in combination, that initiate periodontal lesions.

disease, periodontal, local factors of,

n.pl the environmental conditions within the oral cavity that initiate, enable, or alter the course of diseases of the periodontium (e.g., calculus, diastemata between teeth, food impaction, prematurities in the centric path of closure, and tongue habits).

disease, peripheral vascular,

n a disease of arteries, veins, and/or lymphatic vessels.

disease, pink,

n See acrodynia.

disease, Pott's,

n.pr a spinal curvature (kyphosis) resulting from tuberculosis.

disease progression,

n the course of the disease within a patient/host from onset to resolution.

disease, psychosomatic

(sī´kōsōmat´ik),
n a disease that appears to have been precipitated or prolonged by emotional stress; manifested largely through the autonomic nervous system. Various conditions may be included (e.g., certain forms of asthma, dermatosis, migraine headache, and hypertension). See also disorder, psychophysiologic, autonomic, and visceral.

disease, Quincke's,

n.pr See edema, angioneurotic.

disease, Rendu-Osler-Weber (ron´doo),

n.pr See telangiectasia, hereditary hemorrhagic.

disease, rheumatic,

n See rheumatism.

disease, rickettsial

(riket´sēl),
n a disease caused by microorganisms of the order Rickettsiales (e.g., Rocky Mountain spotted fever, rickettsialpox, typhus, and Q fever).

disease, Riga-Fede

(rē´g-fā´d), an ulceration of the lingual frenum of infants caused by abrasion by natal or neonatal teeth.

disease, Sainton's,

n.pr See dysplasia, cleidocranial.

disease, salivary gland (generalized cytomegalic inclusion),

n a generalized infection in infants caused by intrauterine or postnatal infection with a cytomegalovirus of the group of herpesviruses. Manifestations include jaundice, purpura, hemolytic anemia, vomiting, diarrhea, chronic eczema, and failure to gain weight.

disease, Schūller's

n.pr See osteoporosis.

disease, Selter's,

n.pr See acrodynia.

disease, sex-linked,

n a hereditary disorder transmitted by the gene that also determines sex (e.g., hemophilia).

disease, sickle cell,

n a hematologic disorder caused by the presence of an abnormal hemoglobin (hemoglobin S) that permits the formation or results in the formation of sickle-shaped red blood cells. Two forms of the disease occur: sickle cell trait and sickle cell anemia. See also anemia, sickle cell; trait, sickle cell.

disease, Simmonds' (pituitary cachexia, hypophyseal cachexia, hypopituitary cachexia),

n.pr a panhypopituitarism resulting from destruction of the pituitary gland, usually from hemorrhage or infarction.

disease, Sturge-Weber-Dimitri (encephalotrigeminal angiomatosis),

n.pr See angiomatosis, Sturge-Weber.

disease susceptibility,

n the degree to which a patient or host is vulnerable to a disease.

disease, Sutton's,

n.pr See periadenitis mucosa necrotica recurrens.

disease, Swift's,

n.pr See acrodynia.

disease, systemic,

n a disease involving the whole body.

disease, Takahara's

n.pr a form of rare progressive oral gangrene occurring in childhood and seen only in Japan. Apparently related to a congenital lack of the enzyme catalase (acatalasemia). Characterized by a mild to severe form of a peculiar type of oral gangrene that may develop at the roots of the teeth or the tonsils. Loss of teeth occurs, with necrosis of the alveolar bone. Patients become symptom free after puberty.

disease, transmissible,

n a disease capable of being transmitted from one individual to another; a disease capable of being maintained in successive passages through a susceptible host, usually under experimental conditions such as by injection. See also disease, communicable.

disease transmission,

n the method by which a disease is passed from one patient or host to another. The three most common methods of transmission are direct contact, aerosols, and vectors, such as insects.

disease, Vaquez'

n.pr See erythremia.

disease vectors,

n.pl the intermediary hosts that carry the disease from one species to another, such as mosquitoes, ticks, and rabid animals.

disease, von Recklinghausen's,

n.pr See hyperparathyroidism; osteitis; generalized fibrosa cystica; and neurofibromatosis.

disease, von Recklinghausen's, of bone

(fōn rek´linghouzenz),
n.pr See hyperparathyroidism; osteitis fibrosa cystica.

disease, von Recklinghausen's, of skin,

n.pr See neurofibromatosis.

disease, von Willebrand's

(fōn vil´ebränts),
n.pr an inherited blood coagulation disorder attributed to a deficiency or malfunction of factor VIII. It may cause prolonged or excessive gingival bleeding.

disease, Weil's (epidemic jaundice)

n.pr an acute febrile disease caused by
Leptospira icterohaemorrhagiae or
L. canicola. Manifestations include fever, petechial hemorrhage, myalgia, renal insufficiency, hepatic failure, and jaundice.

disease, Werlhof's

(verl´hofs),
n.pr See purpura, thrombocytopenic.

diseases, demyelinating

n the diseases that have in common a loss of myelin sheath, with preservation of the axis cylinders (e.g., multiple sclerosis, Schilder's disease).

diseases, dental, hereditary,

n.pl the heritable defects of the dentition without generalized disease, which include amelogenesis imperfecta, dentinogenesis imperfecta, dentinal dysplasia, localized and generalized hypoplasia of enamel, peg-shaped lateral incisors, familial dentigerous cysts, missing teeth, giantism, and fused primary mandibular incisors. Dental defects occurring with generalized disease include dentinogenesis imperfecta with osteogenesis imperfecta, missing teeth with ectodermal dysplasia, enamel hypoplasia with epidermolysis bullosa dystrophica, retarded eruption with cleidocranial dysostosis, missing lateral incisors with ptosis of the eyelids, missing premolars with premature whitening of the hair, and enamel hypoplasia in vitamin D resistant rickets.

diseases, group,

n See disease, collagen.

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Niemann-Pick disease

see sphingomyelinosis.

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Niemann-Pick disease

Metabolism A rapidly progressive AR storage disease with progressive neurologic damage due to sphingomyelinase deficiency; NPD type A is AR, more common in Ashkenazi Jews and is characterized by accumulation of excess sphingomyelin and cholesterol in the brain, BM, liver, spleen Clinical Early infancy onset with feeding problems and delayed or regressing motor development, progressive vision and hearing loss; late onset NPD is characterized by movement disorders and seizures. See Niemann-Pick cell.