It can arise de novo or may develop in patients having the chronic form of a hypereosinophilic syndrome . Patients with acute eosinophilic leukemia have a propensity for developing bronchospasm as well as symptoms of the acute coronary syndrome and/or heart failure due to eosinophilic myocarditis and eosinophil-based endomyocardial fibrosis . [1] [2] Hepatomegaly and splenomegaly are more common than in other variants of AML. ... External links [ edit ] Classification D ICD-O : M9880/3 MeSH : D015472 v t e Myeloid -related hematological malignancy CFU-GM / and other granulocytes CFU-GM Myelocyte AML : Acute myeloblastic leukemia M0 M1 M2 APL/M3 MP Chronic neutrophilic leukemia Monocyte AML AMoL/M5 Myeloid dendritic cell leukemia CML Philadelphia chromosome Accelerated phase chronic myelogenous leukemia Myelomonocyte AML M4 MD-MP Juvenile myelomonocytic leukemia Chronic myelomonocytic leukemia Other Histiocytosis CFU-Baso AML Acute basophilic CFU-Eos AML Acute eosinophilic MP Chronic eosinophilic leukemia / Hypereosinophilic syndrome MEP CFU-Meg MP Essential thrombocytosis Acute megakaryoblastic leukemia CFU-E AML Erythroleukemia/M6 MP Polycythemia vera MD Refractory anemia Refractory anemia with excess of blasts Chromosome 5q deletion syndrome Sideroblastic anemia Paroxysmal nocturnal hemoglobinuria Refractory cytopenia with multilineage dysplasia CFU-Mast Mastocytoma Mast cell leukemia Mast cell sarcoma Systemic mastocytosis Mastocytosis : Diffuse cutaneous mastocytosis Erythrodermic mastocytosis Adult type of generalized eruption of cutaneous mastocytosis Urticaria pigmentosa Mast cell sarcoma Solitary mastocytoma Systemic mastocytosis Xanthelasmoidal mastocytosis Multiple/unknown AML Acute panmyelosis with myelofibrosis Myeloid sarcoma MP Myelofibrosis Acute biphenotypic leukaemia
A rare glomerular disease, histologically characterized by thickening of the capillary wall, with immune deposits predominantly containing IgG4 and C3 on the sub-epithelial side, and typically manifesting with nephrotic syndrome. Epidemiology Globally, the overall incidence of membranous nephropathy (MN) is approximately 1/100,000, of which approximately 80% are Primary membranous nephropathy (PMN). ... Clinical description Disease onset is typically between 50-60 years of age, presenting with either nephrotic syndrome (edema with confirmed proteinuria, hypoalbuminemia and hyperlipidemia), or nephrotic-range or subnephrotic proteinuria. ... In patients with progressive renal insufficiency, or patients with severe nephrotic syndrome and high risk of progression, treatment with immunosuppressive drugs should be started. ... Prognosis Patients with non-nephrotic proteinuria typically have non-progressive disease. In patients with nephrotic syndrome, the natural course of disease is variable ranging from spontaneous remission to ESRD.
Description Membranous nephropathy, a major cause of the nephrotic syndrome in adults, is characterized by the presence of glomerular deposits that typically contain immunoglobulin and complement components.
Membranous nephropathy is a kidney disease characterized by inflammation of the structures inside the kidney that help filter wastes and fluids. When the glomerular basement membrane becomes thickened, it does not work normally, allowing large amounts of protein to be lost in the urine. Symptoms develop gradually and may include swelling , fatigue, weight gain, and high blood pressure. In many cases, the underlying cause of membranous nephropathy is not known. Some cases are associated with other conditions ( lupus ), infections ( hepatitis B and C), cancer or as a side effect of certain medications.
A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal. Epidemiology The syndrome is very rare with less than 15 cases reported in the literature so far. ... Differential diagnosis Differential diagnosis should include other cone dysfunction syndromes, namely achromatopsia, Blue cone monochromatism and X-linked cone dysfunction syndrome with myopia, where there is reduced or absent color vision.
A number sign (#) is used with this entry because of evidence that O'Donnell-Luria-Rodan syndrome (ODLURO) is caused by heterozygous mutation in the KMT2E gene (608444) on chromosome 7q22. Description O'Donnell-Luria-Rodan syndrome (ODLURO) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features.
A number sign (#) is used with this entry because of evidence that Popov-Chang syndrome (POPCHAS) is caused by heterozygous mutation in the YWHAZ gene (601288) on chromosome 8q22. Description Popov-Chang syndrome (POPCHAS) is a neurodevelopmental disorder characterized by global developmental delay apparent from infancy.
Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).
Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism. The symptoms, which may not develop until later in infancy or childhood, can include failure to thrive , dilated cardiomyopathy , seizures, and anemia. IBD deficiency is caused by mutations in the ACAD8 gene. It is inherited in an autosomal recessive manner. Treatment may include the use of L-carnitine (a safe and natural substance that helps the body's cells make energy), frequent meals, and a low-valine diet.
Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels of an enzyme that helps break down a particular amino acid called valine. Most people with IBD deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition.
A number sign (#) is used with this entry because isobutyryl-CoA dehydrogenase deficiency (IBDD) is caused by homozygous or compound heterozygous mutation in the ACAD8 gene (604773) on chromosome 11q25. Clinical Features The first patient with isobutyryl-CoA dehydrogenase deficiency was described by Roe et al. (1998) and presented at age 12 months with dilated cardiomyopathy, anemia, and carnitine deficiency. An elevated C4-acylcarnitine was noted in a plasma acylcarnitine profile, but a subsequent urine organic acid analysis was normal. Treatment with oral L-carnitine supplementation led to catch-up growth and normalization of the cardiac status. Oglesbee et al. (2007) reported that the patient remained carnitine-dependent at almost 11 years of age.
A number sign (#) is used with this entry because of evidence that Siderius-type X-linked syndromic mental retardation (MRXSSD) is caused by mutation in the PHF8 gene (300560) on chromosome Xp11. ... Results of cytogenetic analysis and molecular studies for fragile X syndrome (300624) were normal. Laumonnier et al. (2005) reported a family with males who had mental retardation and clinical features similar to those in the family reported by Siderius et al. (1999).
X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed. Individuals with X-linked intellectual disability, Siderius type frequently also have an opening in the lip (cleft lip ) with an opening in the roof of the mouth (cleft palate ). A cleft can occur on one or both sides of the upper lip. Some boys and men with this condition have distinctive facial features, including a long face , a sloping forehead , a broad nasal bridge , a prominent bone in the lower forehead (supraorbital ridge ), and outside corners of the eyes that point upward (upslanting palpebral fissures ). Affected individuals may also have low-set ears and large hands. Frequency While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence of the Siderius type is unknown.
Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.
A number sign (#) is used with this entry because of evidence that autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is caused by homozygous mutation in the TBC1D7 gene (612655) on chromosome 6p24. ... Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood.
A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.
Description Primary megalencephaly is defined as a head circumference about the 98th percentile that most likely is due to brain enlargement and is not secondary to disease (review by Petersson et al., 1999). Clinical Features DeMyer (1972) reported instances of apparently autosomal dominant megalencephaly, with male-to-male transmission in some cases. In a family with megalencephaly in 3 generations, the proband also had mediastinal ganglioneuroblastoma. Macrocephaly predominated in males. Schreier et al. (1974) found 10 persons in 3 generations of a family with presumed megalencephaly. An additional 2 members were considered to have true hydrocephalus. Among 557 children who presented a diagnostic problem of a large head, Lorber and Priestley (1981) found 109 with megalencephaly as the primary diagnosis.
A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence. Epidemiology The estimated birth prevalence ranges between 1/100,000 to 230,000 worldwide. Clinical description Children often appear normal at birth with disease presentation typically between the ages of 5 months to 2 years; however, presentation may occur anywhere between birth and childhood. The onset of symptoms usually occurs in the form of a ketoacidotic crisis, most often brought on by stress, fasting, acute illness and/or infections (i.e. gastroenteritis), and rarely by increased dietary protein intake. An acetone or fruity odor on the breath often signals ketoacidosis. These episodes are associated with vomiting, dyspnea, lethargy and unconsciousness, and can lead to coma and death if not treated.
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid ) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. The signs and symptoms of beta-ketothiolase deficiency typically appear between the ages of 6 months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma.
Hillman and Keating (1974) described a female patient with the 'ketotic hyperglycinemia syndrome' (see 606054 and 251000) and normal propionate and methylmalonate metabolism but markedly impaired catabolism of isoleucine.
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This condition also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. Signs and symptoms typically appear between the ages of 6 and 24 months. Affected children experience intermittent episodes of ketoacidosis, characterized by vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and occasionally, seizures. In severe cases, these episodes can lead to coma. Metabolic stroke is another finding that has been increasingly reported in children with this condition.
Endocardial cushion defects are the most common congenital heart defect that is associated with Down syndrome . Contents 1 Signs and symptoms 2 Diagnosis 2.1 Classification 3 Treatment 4 References 5 External links Signs and symptoms [ edit ] On ECG a left axis deviation is generally found in ostium primum ASD, but an RSR pattern (M pattern) in V1 is characteristic. ... External links [ edit ] Classification D ICD - 10 : Q21.2 ICD - 9-CM : 745.6 DiseasesDB : 1090 External resources eMedicine : ped/1685 This article incorporates text available under the CC BY-SA 3.0 license. v t e Congenital heart defects Heart septal defect Aortopulmonary septal defect Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window Atrial septal defect Sinus venosus atrial septal defect Lutembacher's syndrome Ventricular septal defect Tetralogy of Fallot Atrioventricular septal defect Ostium primum Consequences Cardiac shunt Cyanotic heart disease Eisenmenger syndrome Valvular heart disease Right pulmonary valves stenosis insufficiency absence tricuspid valves stenosis atresia Ebstein's anomaly Left aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation Other Underdeveloped heart chambers right left Uhl anomaly Dextrocardia Levocardia Cor triatriatum Crisscross heart Brugada syndrome Coronary artery anomaly Anomalous aortic origin of a coronary artery Ventricular inversion
Types There are generally four types of prostatitis: Acute bacterial prostatitis, a bacterial infection of the prostate usually with sudden, severe symptoms Chronic bacterial prostatitis, ongoing or recurring bacterial infection usually with less severe symptoms Chronic prostatitis/chronic pelvic pain syndrome, ongoing or recurring pelvic pain and urinary tract symptoms with no evidence of infection Asymptomatic inflammatory prostatitis, signs of an inflamed prostate with no symptoms Symptoms Signs and symptoms of prostatitis can vary depending on the type of disorder. ... Chronic prostatitis/chronic pelvic pain syndrome is not well understood. Research suggests that multiple factors may collectively play a role. ... Risk factors Risk factors for prostatitis include: Young or middle-aged adulthood Previous prostatitis Infection of the urinary or reproductive system HIV infection or AIDS Use of a tube inserted into the urethra to drain the bladder (urinary catheter) Diagnostic sampling of prostate tissue (biopsy) Additional risk factors for chronic prostatitis/chronic pelvic pain syndrome may include: Psychological stress Nerve damage in the pelvic region due to surgery or trauma Complications Complications of acute or chronic prostatitis can include: Bacterial infection of the blood (bacteremia) Inflammation of the coiled tube attached to the back of the testicle (epididymitis) Pus-filled cavity in the prostate (prostatic abscess) Infection that spreads to the upper pelvic bone or lower spine Complications of chronic prostatitis/chronic pelvic pain syndrome may include: Anxiety or depression Sexual dysfunction, such as the inability to get and maintain an erection (erectile dysfunction) Changes in sperm and semen that may cause infertility There's no direct evidence that prostatitis can lead to prostate cancer. ... While this is commonly prescribed for men with chronic prostatitis/chronic pelvic pain syndrome, it may be prescribed to relieve urinary symptoms of bacterial infections. ... Some studies suggest that rye grass pollen extract (cernilton) may help manage pain associated with chronic prostatitis/chronic pelvic pain syndrome. There is insufficient evidence for other herbal remedies for treating pain associated with prostatitis.
Blount's disease Other names Tibia vara Blount's disease is inherited in an autosomal recessive manner (may be multifactorial as well). [1] Specialty Rheumatology Blount's disease is a growth disorder of the tibia (shin bone) that causes the lower leg to angle inward, resembling a bowleg . [ citation needed ] It is also known as "tibia vara". [2] It is named after Walter Putnam Blount (1900–1992), an American pediatric orthopedic surgeon. [3] [4] It has also been known as Mau-Nilsonne Syndrome, after C. Mau and H. Nilsonne, who published early case reports of the condition. [5] [6] Contents 1 Diagnosis 1.1 Differential Diagnosis 2 Treatment 3 References 4 External links Diagnosis [ edit ] Differential Diagnosis [ edit ] Lower extremity deformities in Rickets can closely mimic those produced by Blount's disease . ... External links [ edit ] Classification D ICD - 10 : M92.5 ICD - 9-CM : 732.4 OMIM : 259200 MeSH : C536237 DiseasesDB : 29304 External resources MedlinePlus : 001584 eMedicine : radio/83 v t e Bone and joint disease Bone Inflammation endocrine : Osteitis fibrosa cystica Brown tumor infection : Osteomyelitis Sequestrum Involucrum Sesamoiditis Brodie abscess Periostitis Vertebral osteomyelitis Metabolic Bone density Osteoporosis Juvenile Osteopenia Osteomalacia Paget's disease of bone Hypophosphatasia Bone resorption Osteolysis Hajdu–Cheney syndrome Ainhum Gorham's disease Other Ischaemia Avascular necrosis Osteonecrosis of the jaw Complex regional pain syndrome Hypertrophic pulmonary osteoarthropathy Nonossifying fibroma Pseudarthrosis Stress fracture Fibrous dysplasia Monostotic Polyostotic Skeletal fluorosis bone cyst Aneurysmal bone cyst Hyperostosis Infantile cortical hyperostosis Osteosclerosis Melorheostosis Pycnodysostosis Joint Chondritis Relapsing polychondritis Other Tietze's syndrome Combined Osteochondritis Osteochondritis dissecans Child leg: hip Legg–Calvé–Perthes syndrome tibia Osgood–Schlatter disease Blount's disease foot Köhler disease Sever's disease spine Scheuermann's_disease arm: wrist Kienböck's disease elbow Panner disease
A number sign (#) is used with this entry because hawkinsinuria is caused by heterozygous mutation in the HPD gene (609695), encoding 4-hydroxyphenylpyruvic acid dioxygenase, on chromosome 12q24. Homozygous or compound heterozygous mutation in the HPD gene causes tyrosinemia type III (276710). Description Hawkinsinuria is an autosomal dominant inborn error of metabolism (Danks et al., 1975; Tomoeda et al., 2000). Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life.
Hawkinsinuria is an inherited disorder, characterized by the inability to break down the amino acid tyrosine. This results in the finding of certain amino acids in the urine, such as hawkinsin. The features of this condition usually appear around the time infants are weaned off breast milk and begin to use formula. The signs and symptoms may include: failure to gain weight and grow at the expected rate (failure to thrive), abnormally high acid levels in the blood (acidosis), and fine or sparse hair. Hawkinsinuria is caused by mutations in the HPD gene and is inherited in an autosomal dominant manner.
Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. Epidemiology The prevalence is unknown, but the disease appears to be very rare with only a small number of affected families reported in the literature. Clinical description Symptoms manifest in infants fed on formula or cow's milk or after weaning from breast milk. Etiology The disorder is transmitted as an autosomal dominant trait and is caused by an A33T mutation in 4-hydroxyphenylpyruvic acid dioxygenase (4-HPPD), an enzyme that catalyses the conversion of hydroxyphenylpyruvate to homogentisate. Diagnostic methods The diagnosis is confirmed by detection of characteristic tyrosine metabolites by organic acid analysis of the urine.
Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive . In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzyme valine transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known.
Urinary and serum valine were elevated, without elevation of leucine and isoleucine, in a child with vomiting, failure to thrive, and drowsiness (Wada et al., 1963). The parents, who were not known to be related, showed abnormally large amounts of valine in the urine. The deficient enzyme is valine transaminase. Observation of this condition and sweaty feet disease indicates that different enzymes are involved in the metabolism of valine, leucine, and isoleucine. Dancis et al. (1967) presented evidence that the transamination of valine is dependent on an enzyme specific for valine. They showed further that transamination of valine is demonstrable in the normal placenta.