A number sign (#) is used with this entry because autosomal dominant optic atrophy-3 (OPA3), also known as optic atrophy and cataract, is caused by heterozygous mutation in the OPA3 gene (606580) on chromosome 19q13. 3-Methylglutaconic aciduria type III (MGCA3; 258501), also known as optic atrophy plus syndrome, is an allelic disorder with similar but more severe features.
Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness. Several abnormalities contribute to impaired vision in people with autosomal dominant optic atrophy and cataract. In the early stages of the condition, affected individuals experience a progressive loss of certain cells within the retina , which is a specialized light-sensitive tissue that lines the back of the eye.
A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).
Therefore we have to take adequate precautions to prevent future dialysis disequilibrium syndrome in CKD patients. There are several steps in prevention of dialysis related amyloidosis. [4] Use of high flux dialyzers Use of Beta 2 globulin absorber Preserve the residual kidney functions Early kidney transplant In addition low copper dialysis is theorized to prevent or delay onset. [5] Management [ edit ] Management of haemodialysis associated amyloidosis is symptomatic.
Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out. Treatment includes corticosteroids in the inflammation stage and photocoagulation in the proliferative stage of the disease. Visual prognosis is good if treatment begins early in the course of the disease.
A rare histiocytic tumor characterized by a malignant proliferation of cells showing morphological and immunophenotypic features of mature tissue histiocytes. Most cases occur in extranodal sites, most commonly the intestinal tract, skin, and soft tissue. Patients may present with a solitary mass, lymphadenopathy, a skin rash or numerous tumors on the trunk and extremities, lytic bone lesions, hepatosplenomegaly with pancytopenia, intestinal obstruction, and/or systemic symptoms. The neoplasm is aggressive with typically poor therapy response.
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. Epidemiology It is extremely rare, as only 33 cases have been reported in 3 families. Clinical description The disease typically has onset in late childhood or adolescence. Clinical signs include chronic bone pain and disorders of the cranial nerves (trigeminal neuralgia, facial palsy, hearing loss). The risk of fracture is not increased and patients show normal or even increased trabecular bone strength.
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia . In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive.
Differential diagnosis Rarer forms of pulmonary hypertension include pulmonary veno-occlusive disease /pulmonary capillary hemangiotosis (PVOD /PCH, see these terms).Differential diagnoses include asthma, chronic obstructive pulmonary disease, hypoplastic left heart syndrome, chronic thromboembolic pulmonary hypertension and complete atrio-ventricular canal - left heart obstruction (see these terms).
Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH. Epidemiology Prevalence of PAH, in all of its forms, is estimated at around 1/67,000. IPAH is one of the most commonly diagnosed forms. Clinical description Clinical manifestations of IPAH are similar to other forms of PAH regardless of its etiology. IPAH develop in adults and in rare cases in children; women are twice as likely as men to be affected.
Pulmonary arterial hypertension (PAH) affects the heart and lungs. It is characterized by abnormally high blood pressure ( hypertension ) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Symptoms include shortness of breath (dyspnea) during exercise and fainting spells. The symptoms tend to get worse over time and may include dizziness, swelling ( edema ) of the ankles or legs, chest pain, and a racing pulse. Some cases of PAH are due to genetic changes (mutations) in the BMPR2 gene and inherited in an autosomal dominant pattern. Most cases of PAH occur in individuals with no family history of the disorder.
Differential diagnosis Subtypes 2A, 2B and 2M can be differentiated from acquired von Willebrand syndrome (AVWS), clinically by the onset of bleeding manifestations at a young age, a family history of the disease and the absence of an underlying pathology, and through molecular analysis revealing a mutation in the VWF gene.
Jackson et al. (2009) identified a heterozygous V1316M substitution (613160.0007) in affected members of a large French Canadian family with VWD type 2B that had been described originally by Lacombe and D'Angelo (1963); Milton and Frojmovic (1979), and Milton et al. (1984) referred to the disorder in the family as 'Montreal platelet syndrome.' Affected individuals had lifelong bruising; some patients had severe postoperative bleeding, postpartum hemorrhage, and gastrointestinal bleeding. ... Both patients had a moderate bleeding syndrome with epistaxis and easy bruising.
Mitochondrial disorders, especially those associated with external ophthalmoplegia and ptosis, should be considered as well (see Mitochondrial DNA Deletion Syndromes and Mitochondrial Disorders Overview).
Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms include problems with coordination and balance when walking (gait ataxia), speech and swallowing difficulties (dysarthria), over-reactive reflex reactions in knees and ankles (hyperreflexia), weakness in the muscles that control eye movement (ophthalmoparesis), uncontrolled movement of the eye (nystagmus) and drooping eyelid (ptosis). The symptoms worsen very slowly over time. SCA28 is caused by changes in the AFG3L2 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA28, but treatments are available to help manage symptoms.
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. Epidemiology Prevalence is unknown. SCA28 accounts for approximately 1.5% of all European cases of ADCA. Clinical description The mean age of symptom onset was 19.5 years in the original kindred. Some patients show cognitive impairment. In more advanced stages of the disorder, ophthalmoparesis, slowed saccades, ptosis and pyramidal signs are reported.
Encephalohepatopathic MPV17 -related mtDNA maintenance defect may also be referred to as infantile hepatocerebral mtDNA depletion syndrome. Prevalence The prevalence of MPV17 -related mtDNA maintenance defect is unknown but likely to be very low; only 100 affected individuals have been reported to date. ... Mitochondrial DNA Maintenance Defects Presenting with Encephalohepatopathy View in own window Gene Disorder / Phenotype MOI mtDNA Maintenance Defect Usual Age of Onset Common Clinical Manifestations MPV17 Subject of this GeneReview AR Depletion Neonatal period or infancy DD Hypotonia Liver dysfunction/failure FTT Lactic acidosis DGUOK Deoxyguanosine kinase deficiency AR Depletion Neonatal period DD Hypotonia Nystagmus Liver dysfunction/failure Lactic acidosis POLG Alpers-Huttenlocher syndrome AR Depletion Early childhood DD Psychomotor regression Epilepsy Liver dysfunction/failure Hearing impairment TFAM Encephalohepatopathy (OMIM 617156) AR Depletion Neonatal period IUGR Hypoglycemia Liver dysfunction/failure TWNK Encephalohepatopathy (OMIM 271245) AR Depletion Neonatal period or infancy DD Hypotonia Liver dysfunction/failure Lactic acidosis AR = autosomal recessive; DD = developmental delay; FTT = failure to thrive; IUGR = intrauterine growth restriction; MOI = mode of inheritance In addition, pathogenic variants in BCS1L (encoding a mitochondrial protein involved in complex III assembly) and SCO1 (encoding a mitochondrial protein involved in complex IV assembly) have been associated with encephalopathy and hepatic dysfunction (OMIM 124000, 220110). ... Mitochondrial DNA Maintenance Defects Presenting with Myopathy View in own window Gene Disorder MOI mtDNA Maintenance Defect Usual Age of Onset Common Clinical Manifestations in Addition to Muscle Weakness AGK Sengers syndrome (OMIM 212350) AR Depletion Neonatal period Hypotonia HCM Cataracts DGUOK Deoxyguanosine kinase deficiency AR Multiple deletions Early or mid-adulthood Ptosis Ophthalmoplegia DNA2 Myopathy (OMIM 615156) AD Multiple deletions Childhood or early adulthood Ptosis Ophthalmoplegia MGME1 Myopathy (OMIM 615084) AR Depletion & multiple deletions Childhood or early adulthood Ptosis Ophthalmoplegia POLG2 Myopathy (See POLG -Related Disorders) AD Multiple deletions Infancy to adulthood Ptosis Ophthalmoplegia SLC25A4 Cardiomyopathy (OMIM 615418) AR Multiple deletions Childhood Exercise intolerance/ easy fatigability HCM Cardiomyopathy (OMIM 617184) AD Depletion Birth Hypotonia HCM TK2 Mitochondrial DNA depletion syndromes AR Depletion Infancy or childhood Hypotonia Loss of acquired motor skills AD = autosomal dominant; AR = autosomal recessive; HCM = hypertrophic cardiomyopathy; MOI = mode of inheritance Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with MPV17 -related mtDNA maintenance defect, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended: Table 5.
Disorders with Dystonia and MRI Signal Abnormality in the Basal Ganglia to Consider in the Differential Diagnosis of MECR -Related Neurologic Disorder View in own window Disorder Gene(s) MOI Clinical Features of This Disorder Overlapping w/ MECR -related neurologic disorder 1 Distinguishing from MECR -related neurologic disorder Leigh syndrome (see Nuclear Gene-Encoded Leigh Syndrome Overview & Mitochondrial DNA-Associated Leigh Syndrome and NARP) See footnote 2 AR, XL, Mit Optic atrophy may develop. ... In addition to dystonia and MRI findings of signal abnormality in the basal ganglia 2. Leigh syndrome, a heterogeneous group of disorders, is associated with pathogenic variants in more than 70 genes (nuclear and mitochondrial). 3.
The majority of food allergies are triggered by certain proteins in: Crustacean shellfish, such as shrimp, lobster and crab Peanuts Tree nuts, such as walnuts and pecans Fish Chicken eggs Cow's milk Wheat Soy Pollen-food allergy syndrome Also known as oral allergy syndrome, pollen-food allergy syndrome affects many people who have hay fever. ... The following table shows the specific fruits, vegetables, nuts and spices that can cause pollen-food allergy syndrome in people who are allergic to different pollens.
Balsam of Peru , which is in various foods, is in the "top five" allergens most commonly causing patch test reactions in people referred to dermatology clinics. [27] Sensitization [ edit ] Sensitization can occur through the gastrointestinal tract, respiratory tract and possibly the skin. [28] Damage to the skin in conditions such as eczema has been proposed as a risk factor for sensitization. [29] An Institute of Medicine report says that food proteins contained in vaccines, such as gelatin , milk, or egg can cause sensitization (development of allergy) in vaccine recipients, to those food items. [30] Atopy [ edit ] Food allergies develop more easily in people with the atopic syndrome , a very common combination of diseases: allergic rhinitis and conjunctivitis , eczema , and asthma . [31] The syndrome has a strong inherited component; a family history of allergic diseases can be indicative of the atopic syndrome. [ medical citation needed ] Cross-reactivity [ edit ] Some children who are allergic to cow's milk protein also show a cross-sensitivity to soy-based products. [32] Some infant formulas have their milk and soy proteins hydrolyzed, so when taken by infants, their immune systems do not recognize the allergen and they can safely consume the product. ... While it is caused by a permanent intolerance to gluten (present in wheat , rye, barley and oats), is not an allergy nor simply an intolerance, but a chronic, multiple-organ autoimmune disorder primarily affecting the small intestine . [54] [55] [56] Irritable bowel syndrome C1 Esterase inhibitor deficiency ( hereditary angioedema ), a rare disease , generally causes attacks of angioedema, but can present solely with abdominal pain and occasional diarrhea, and thus may be confused with allergy-triggered angioedema.
Genetic predisposition for this idiosyncratic hypersensitivity syndrome was suggested by its occurrence in a small percentage of abacavir recipients during a short period of drug exposure, and familial occurrence and decreased incidence in individuals of African American origin (Symonds et al., 2002). ... Association With Severe Cutaneous Adverse Reaction Chung et al. (2004) studied 44 patients with carbamazepine-induced Stevens-Johnson syndrome (608579), including 5 with overlapping toxic epidermal necrolysis, in whom the clinical morphology fulfilled Roujeau's diagnostic criteria (Roujeau, 1994). ... One hundred percent of the patients who developed Stevens-Johnson syndrome carried the HLA-B*1502 allele (142830.0002), while only 3% of the carbamazepine-tolerant individuals and 8.6% of the normal controls carried this allele. When the carbamazepine-tolerant group was used as the control, the presence of HLA-B*1502 had a 93.6% positive predictive value for developing carbamazepine-induced Stevens-Johnson syndrome, whereas its absence had a negative prediction value of 100%.
Q fever, caused by Coxiella burnetii , is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic. Epidemiology In recent years in Europe, there has been an increase in the number of reported cases. In the Netherlands in particular, between 2007 and 2010 there were more than 4,000 cases reported. Clinical description Q fever affects all ages, but is mostly reported in those aged 30-70 years. The incubation period is 2-3 weeks. Approximately 60% of cases are asymptomatic.
Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii . Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive for long periods in the environment. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, and waste products of infected animals. Other modes of transmission to humans, including tick bites, ingestion of unpasteurized milk or dairy products, and human to human transmission, are rare.
Carbimazole and PTU are both secreted in breast milk but evidence suggests that antithyroid drugs are safe during lactation. [31] There are no adverse effects on IQ or psychomotor development in children whose mothers have received antithyroid drugs in pregnancy.Current guidelines suggest that a pregnant patient should be on PTU during the first trimester of pregnancy due to lower tetragenic effect and then be switched to methimazole during the second and third trimester due to lower liver dysfunction side effects. [ citation needed ] Postpartum thyroiditis [ edit ] Main article: Postpartum thyroiditis Postpartum thyroid dysfunction (PPTD) is a syndrome of thyroid dysfunction occurring within the first 12 months of delivery as a consequence of the postpartum immunological rebound that follows the immune tolerant state of pregnancy. ... PMID 11588143 . v t e Pathology of pregnancy , childbirth and the puerperium Pregnancy Pregnancy with abortive outcome Abortion Ectopic pregnancy Abdominal Cervical Interstitial Ovarian Heterotopic Embryo loss Fetal resorption Molar pregnancy Miscarriage Stillbirth Oedema , proteinuria and hypertensive disorders Gestational hypertension Pre-eclampsia HELLP syndrome Eclampsia Other, predominantly related to pregnancy Digestive system Acute fatty liver of pregnancy Gestational diabetes Hepatitis E Hyperemesis gravidarum Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy Gestational pemphigoid Impetigo herpetiformis Intrahepatic cholestasis of pregnancy Linea nigra Prurigo gestationis Pruritic folliculitis of pregnancy Pruritic urticarial papules and plaques of pregnancy (PUPPP) Striae gravidarum Nervous system Chorea gravidarum Blood Gestational thrombocytopenia Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity amniotic fluid Oligohydramnios Polyhydramnios Braxton Hicks contractions chorion / amnion Amniotic band syndrome Chorioamnionitis Chorionic hematoma Monoamniotic twins Premature rupture of membranes Obstetrical bleeding Antepartum placenta Circumvallate placenta Monochorionic twins Placenta accreta Placenta praevia Placental abruption Twin-to-twin transfusion syndrome Labor Amniotic fluid embolism Cephalopelvic disproportion Dystocia Shoulder dystocia Fetal distress Locked twins Nuchal cord Obstetrical bleeding Postpartum Pain management during childbirth placenta Placenta accreta Preterm birth Postmature birth Umbilical cord prolapse Uterine inversion Uterine rupture Vasa praevia Puerperal Breastfeeding difficulties Low milk supply Cracked nipples Breast engorgement Childbirth-related posttraumatic stress disorder Diastasis symphysis pubis Postpartum bleeding Peripartum cardiomyopathy Postpartum depression Postpartum psychosis Postpartum thyroiditis Puerperal fever Puerperal mastitis Other Concomitant conditions Diabetes mellitus Systemic lupus erythematosus Thyroid disorders Maternal death Sexual activity during pregnancy Category
At age 40 44% will have a conception ending in a live birth within one year 64% will have a conception ending in a live birth within four years. [4] Risk of birth defects [ edit ] The risk of having a Down syndrome pregnancy in relation to a mother's age. A woman's risk of having a baby with chromosomal abnormalities increases with her age. Down syndrome is the most common chromosomal birth defect , and a woman's risk of having a baby with Down syndrome is: [5] At age 20, 1 in 1,441 At age 25, 1 in 1,383 At age 30, 1 in 959 At age 35, 1 in 338 At age 40, 1 in 84 At age 45, 1 in 32 Other effects [ edit ] Advanced maternal age is associated with adverse outcomes in the perinatal period , which may be caused by detrimental effects on decidual and placental development. [15] The risk of the mother dying before the child becomes an adult increases by more advanced maternal age, such as can be demonstrated by the following data from France in 2007: [16] Maternal age at childbirth 20 25 30 35 40 45 Risk of mother not surviving until child's 18th birthday (in % ) [16] 0.6 1.0 1.6 2.6 3.8 5.5 The above table is not to be confused with maternal mortality . ... "Revised estimates of the maternal age specific live birth prevalence of Down's syndrome" . Journal of Medical Screening . 9 (1): 2–6. doi : 10.1136/jms.9.1.2 .