On radiographs the teeth appear more radiolucent than normal, so they are often described as "ghost teeth". [1] Most cases are considered idiopathic , but some cases are associated with syndromes, growth abnormalities, neural disorders, and vascular malformations.
Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues. Epidemiology The prevalence is unknown but around 140 cases have been reported in the literature so far. The condition affects females more often than males, but shows no predilection for ethnic origin. Clinical description The teeth of individuals with ROD are usually hypoplastic, small and atypically shaped with surface pits and grooves and a yellowish or brownish discoloration. The condition usually affects the maxilla more than the mandible and is generally unilateral.
Lee et al. (1978) described a family in which 4 of 11 children had absence of C1r and marked deficiency of C1s (120580). Two of the 4 had a syndrome combining discoid lupus erythematosus and nondeforming rheumatoid-like arthritis; 1 had mild nephritis.
Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.
Differential diagnosis Differential diagnosis includes familial hemophagocytic histiocytosis and other phagocytic syndromes, Gaucher disease type II, Niemann-Pick disease type A, and malignancies such as leukemia or neuroblastoma.
Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, which typically causes liver disease. There are two forms of the condition. The most severe and rarest form begins in infancy. The less severe form can begin from childhood to late adulthood. In the severe, early-onset form of lysosomal acid lipase deficiency, lipids accumulate throughout the body, particularly in the liver, within the first weeks of life. This accumulation of lipids leads to several health problems, including an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, fatty stool (steatorrhea), and poor absorption of nutrients from food (malabsorption).
Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). It is the most severe type of lysosomal acid lipase deficiency . The lysomal acid lipase deficiency causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands . Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea , developmental delay, anemia, and poor absorption of nutrients from food. Wolman disease is caused by mutations in the LIPA gene which provides instructions to make the lysosomal acid lipase. Inheritance is autosomal recessive. The disease is severe and life-threatening, however enzyme replacement therapy, available for the treatment of lysosomal acid lipase deficiencies, in the United States, the European Union, and Japan, have shown improvement of symptoms, including liver problems, as well as an increased life expectancy.
Lysosomal acid lipase deficiency Other names Wolman disease LAL-D has an autosomal recessive pattern of inheritance . Specialty Medical Genetics , Hepatology Lysosomal acid lipase deficiency ( LAL deficiency or LAL-D ), is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme . This enzyme plays an important role in breaking down fatty material ( cholesteryl esters and triglycerides ) in the body. [1] Infants, children and adults that suffer from LAL deficiency experience a range of serious health problems. The lack of the LAL enzyme can lead to a build-up of fatty material in a number of body organs including the liver , spleen , gut , in the wall of blood vessels and other important organs. Very low levels of the LAL enzyme lead to LAL deficiency. LAL deficiency typically affects infants in the first year of life.
Dental ankylosis exists in isolation or associated with other abnormalities as part of a syndrome. Etiology Etiology remains uncertain but a genetic predisposition, trauma, inflammation or infection may play a causative role.
Description Secondary retention is the cessation of eruption of a tooth after emergence that does not result from a physical barrier in the path of eruption or an abnormal position of the tooth. Permanent molars are less frequently affected than deciduous molars. The major characteristic of a secondarily retained molar is infraocclusion, which may result in malocclusion because of tilting of the neighboring teeth and overeruption of antagonists. The disorder can also result in loss of the retained molar and neighboring teeth due to caries and periodontal disease and in deformation of the facial skeleton (Raghoebar et al., 1992). See also 125350 and 273050 for phenotypes with shared features of secondary retention of permanent molars. Clinical Features Via (1964) suggested autosomal dominant inheritance for submerged deciduous molars.
References [ edit ] External links [ edit ] Classification D ICD - 10 : Q25.4 ( EUROCAT Q25.42) ICD - 9-CM : 747.21 v t e Congenital vascular defects / Vascular malformation Great arteries / other arteries Aorta Patent ductus arteriosus Coarctation of the aorta Interrupted aortic arch Double aortic arch Right-sided aortic arch Overriding aorta Aneurysm of sinus of Valsalva Vascular ring Pulmonary artery Pulmonary atresia Stenosis of pulmonary artery Subclavian artery Aberrant subclavian artery Umbilical artery Single umbilical artery Great veins Superior / inferior vena cava Congenital stenosis of vena cava Persistent left superior vena cava Pulmonary vein Anomalous pulmonary venous connection ( Total , Partial ) Scimitar syndrome Arteriovenous malformation Cerebral arteriovenous malformation This article about a medical condition affecting the circulatory system is a stub .
Clinical description The disease usually presents in infants aged 3 to 6 months with systemic manifestations of hepatosplenomegaly and an early onset and severe neurological syndrome. The first signs are oculomotor paralysis or bilateral fixed strabismus associated with bulbar signs, in particular severe swallowing difficulties, progressive spasticity and dystonic movements.
A number sign (#) is used with this entry because Gaucher disease type II is caused by homozygous or compound heterozygous mutation in the gene encoding acid beta-glucosidase (GBA; 606463) on chromosome 1q22. Mutation in the same gene causes nonneuronopathic Gaucher disease type I (230800) and subacute neuronopathic type III (231000). See also the perinatal lethal variant (608013), which is often considered to be a severe form of type II. Description Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age.
Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms usually develop by 3 months of age and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the liver and spleen. Many children die by 2 to 4 years of age. Gaucher disease type 2 is caused by mutations in the GBA gene. It is inherited in an autosomal recessive pattern. While enzyme replacement therapy is available for some types of Gaucher disease, children with Gaucher disease type 2 generally don't respond to this treatment. Evaluation at a comprehensive center specializing in Gaucher disease and supportive care is appropriate for all affected children.
Differential diagnosis Other causes of 5-oxoprolinuria include 5-oxoprolinase deficiency (see this term), diet (certain infant formulas and tomato juice), severe burns, Stevens-Johnson syndrome (see this term), inborn errors of metabolism not involving the gamma-glutamyl cycle, e.g.
Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components. Glutathione synthetase deficiency can be classified into three types: mild, moderate, and severe. Mild glutathione synthetase deficiency usually results in the destruction of red blood cells (hemolytic anemia).
A number sign (#) is used with this entry because of evidence hemolytic anemia due to glutathione synthetase deficiency of erythrocytes (GSSDE) can be caused by homozygous mutation in the gene encoding glutathione synthetase (GSS; 601002), on chromosome 20q11. The same gene is mutant in 5-oxoprolinuria (266130). Description Two forms of glutathione synthetase deficiency have been described; a mild form, referred to as glutathione synthetase deficiency of erythrocytes, causing hemolytic anemia, and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement (266130). Clinical Features Mohler et al. (1970) described a man of Scottish extraction with hemolytic anemia due to deficiency of glutathione synthetase. Four children of the proband, 1 of 3 of his sibs, and both parents had intermediate levels of enzyme. Presumably, the families of Oort et al. (1961) and of Boivin et al. (1966) had the same condition.
This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Glutathione synthetase deficiency" – news · newspapers · books · scholar · JSTOR ( July 2008 ) ( Learn how and when to remove this template message ) Glutathione synthetase deficiency Other names Pyroglutamicaciduria, 5-Oxoprolinuria, Oxoprolinase deficiency, Pyroglutamic aciduria Glutathione Glutathione synthetase deficiency ( GSD ) is a rare autosomal recessive [1] metabolic disorder that prevents the production of glutathione . Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds ( carcinogens ), and building DNA , proteins, and other important cellular components. Contents 1 Genetics 2 Diagnosis 3 Treatment 4 References 5 Further reading 6 External links Genetics [ edit ] Glutathione synthetase deficiency has an autosomal recessive pattern of inheritance.
A number sign (#) is used with this entry because glutathione synthetase deficiency, or 5-oxoprolinuria, is caused by homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS; 601002) on chromosome 20q11. The same gene is mutant in hemolytic anemia due to glutathione synthetase deficiency of erythrocytes (231900). Also see 5-oxoprolinuria due to oxoprolinase deficiency (260005). Description Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001). Clinical Features Jellum et al. (1970) discovered large amounts of pyroglutamic acid in the urine and plasma of a 19-year-old retarded Norwegian male.
Glutathione synthetase deficiency is a genetic metabolic disorder that affects the body’s ability to produce an important substance called glutathione. People with glutathione synthetase deficiency do not have enough of the molecule called glutathione synthetase, which helps the body produce glutathione. People with glutathione synthetase deficiency can have mild, moderate, or severe disease. The signs and symptoms of the deficiency may include anemia, the buildup of too much acid in the body ( metabolic acidosis ), frequent infections, and symptoms caused by problems in the brain including seizures, intellectual disability, and loss of coordination (ataxia). Glutathione synthetase deficiency is caused by genetic changes (pathogenic variants or mutations) in the GSS gene.
Further fine mapping in the region revealed significant evidence of disease-associated haplotypes centering over exons 2 through 4 of the CHD7 gene (608892), which had been found to be mutant in the CHARGE syndrome of multiple anomalies (214800).
Mutations in the RAG1 gene also cause T cell-negative, B cell-negative, natural killer (NK) cell-positive severe combined immunodeficiency (SCID; 601457) and Omenn syndrome (603554). Clinical Features De Villartay et al. (2005) reported 4 unrelated infants born to first cousins of Algerian, Moroccan, Lebanese, and Turkish origin who presented with persistent CMV infection before 1 year of age.
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. Epidemiology Prevalence is unknown. To date, 9 cases have been reported. Clinical description Patients present before the age of one year with severe disseminated CMV infection, which can manifest with fever and splenomegaly, and recurrent and severe co-infections including sepsis and pneumonitis. Autoimmune cytopenia also occurs and can include autoimmune hemolytic anemia (see these terms) or neutropenia. Etiology SCID due to partial RAG1 deficiency is caused by hypomorphic mutation in the RAG1 gene (11p13).
Rarely, they cause sharp pain. Irritable bowel syndrome. Symptoms linked with irritable bowel syndrome — bloating, constipation or diarrhea — can be a source of pelvic pain and pressure. Painful bladder syndrome. This is also called interstitial cystitis. ... The pain may get better for a while after you empty your bladder. Pelvic congestion syndrome. Enlarged, varicose-type veins around the uterus and ovaries can lead to pelvic pain.
Williams have noted that people with systematically deficient responses to various adaptive phobias (e.g. basophobia, ophidiophobia , arachnophobia ) are more temperamentally careless and more likely to end up in potentially fatal accidents and have proposed that such deficient phobia should be classified as " hypophobia " due to its selfish genetic consequences . [3] [4] [5] Elderly persons [ edit ] See also: Falls in older adults For a long time, the fear of falling was merely believed to be a result of the psychological trauma of a fall, also called "post-fall syndrome". [6] This syndrome was first mentioned in 1982 by Murphy and Isaacs, [7] who noticed that after a fall, ambulatory persons developed intense fear and walking disorders. Fear of falling has been identified as one of the key symptoms of this syndrome. Since that time, FOF has gained recognition as a specific health problem among older adults. ... PMID 11869155 . ^ Murphy, J.; B. Isaacs (1982). "The post-fall syndrome: a study of 36 elderly patients".
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