Capillary Leak Syndrome Other names SCLS, Clarkson's Disease, Capillary hyperpermeability syndrome Specialty Hematology Symptoms hemoconcentration , hypotension , hypoalbuminemia , edema , compartment syndromes Differential diagnosis polycythemia , polycythemia vera , hyperviscosity syndrome , sepsis Treatment IVIG , theophylline , terbutaline , montelukast Capillary leak syndrome is characterized by the escape of blood plasma through capillary walls , from the blood circulatory system to surrounding tissues, muscle compartments, organs or body cavities. It is a phenomenon most commonly witnessed in sepsis , and less frequently in autoimmune diseases , differentiation syndrome , engraftment syndrome , hemophagocytic lymphohistiocytosis , the ovarian hyperstimulation syndrome , viral hemorrhagic fevers , and snakebite and ricin poisoning. [1] Pharmaceuticals, including the chemotherapy medications gemcitabine and tagraxofusp , as well as certain interleukins and monoclonal antibodies, can also cause capillary leaks. [1] These conditions and factors are sources of secondary capillary leak syndrome. ... "The Clinical Picture of Severe Systemic Capillary-Leak Syndrome Episodes Requiring ICU Admission". ... "Control of systemic capillary leak syndrome with aminophylline and terbutaline". ... "Idiopathic Systemic Capillary Leak Syndrome (Clarkson's Disease): The Mayo Clinic Experience" .
Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia. ... Complications may occur in acute and post-leak phases: in the former, they include compartment syndrome with rhabdomyolysis, cardiac arrythmias, thrombosis, pancreatitis, pericarditis (see this term), seizures, cerebral edema or thickening of the myocardium. ... Chronic cases might be misdiagnosed as Gleich syndrome, venous stasis, protein-losing enteropathy and nephrotic syndrome.
Systemic capillary leak syndrome (SCLS) causes fluid and proteins to leak out of tiny blood vessels (capillaries) into surrounding tissues. ... Complications can include general swelling, compartment syndrome , kidney failure, and stroke. SCLS occurs in episodes which vary in frequency, with some people having one episode in their lifetime and others having several per year.
A number sign (#) is used with this entry because of evidence that Brugada syndrome-5 (BRGDA5) and a nonspecific cardiac conduction defect are caused by heterozygous mutation in the SCN1B gene (600235) on chromosome 19q13. Description Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). For a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144). Clinical Features Watanabe et al. (2008) studied 3 kindreds with conduction abnormalities, 1 Turkish, 1 French, and 1 Dutch; none of the families had a history of syncope, sudden cardiac death, or epilepsy. ... Their sister had a normal ECG and a negative flecainide test, but her son was found to have right bundle branch block and type II Brugada syndrome after flecainide challenge. The Dutch proband was a 17-year-old girl who had right bundle branch block and a prolonged PR interval of 196 ms on ECG; echocardiography was normal and a flecainide test for Brugada syndrome was negative.
Description Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder, similar to type I progressive familial heart block (PFHB1; see 113900). The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes (Brink and Torrington, 1977). Clinical Features Brink and Torrington (1977) described a large 4-generation South African family of Dutch ancestry with a strong history of sudden death. Of 24 family members who underwent electrocardiography, 10 had conduction abnormalities, including 3 with sinus bradycardia, 3 with isolated left posterior hemiblock, 1 with atrial fibrillation and a slow ventricular response, and 2 with complete heart block (the latter 2 had pacemakers implanted). Three other family members had died at the relatively young ages of 41, 39, and 16 years, respectively, despite having had pacemakers implanted.
Differential diagnosis The differential diagnosis includes Brugada syndrome, idiopathic ventricular fibrillation, long QT syndrome, lupus neonatal, progressive familial heart block type II, and sudden infant death syndrome.
Lev's disease Other names Lenegre–Lev syndrome Specialty Cardiology Lev's disease is an acquired complete heart block due to idiopathic fibrosis and calcification of the electrical conduction system of the heart .
The family of Wendkos and Study (1947) consisted of a father with the Wolff-Parkinson-White syndrome and 2 offspring with congenital complete heart block. ... Seven of the family members were found to have sinus node dysfunction ('sick sinus syndrome') and/or various degrees of atrioventricular block.
Chambers et al. (1995) described familial sudden death syndrome with an abnormal signal-averaged electrocardiogram (Simson, 1981) as a potential marker.
A number sign (#) is used with this entry because of evidence that progressive familial heart block type IB (PFHB1B) is caused by heterozygous mutation in the TRPM4 gene (606936) on chromosome 19q13. For a phenotypic description and a discussion of genetic heterogeneity of progressive familial heart block type I, see PFHB1A (113900). Clinical Features Brink and Torrington (1977) reported a 6-generation South African family of Portuguese and French ancestry with 261 known relatives, in which conduction defects segregated in an autosomal dominant pattern. Of 55 members in the last 3 generations who underwent electrocardiography, 31 had conduction abnormalities, including 16 with monofascicular right bundle branch block (RBBB), 3 with left anterior hemiblock, and 6 with complete heart block; another 6 individuals had a mildly prolonged QT interval or short PR interval without a Wolff-Parkinson-White (194200) pattern. The average age at which a pacemaker was implanted in the 3 successive generations decreased from 54.5 years in the fourth to 25 years in the fifth to 1 year of age in the sixth generation.
Elevated serum biotinidase activity is also found in patients and has recently been proposed as a diagnostic marker for this syndrome and other glycogen storage diseases. ... The renal phenotype must be differentiated from other forms of genetically determined Fanconi Syndrome. Antenatal diagnosis Prenatal diagnosis is possible for families in which the SLC2A2 mutation has already been identified.
A number sign (#) is used with this entry because of evidence that Fanconi-Bickel syndrome is caused by homozygous or compound heterozygous mutations in the GLUT2 gene (138160) on chromosome 3q26. ... They also introduced the eponymic designation Fanconi-Bickel syndrome. Manz et al. (1987) compared clinical, functional, and morphologic data from 9 infants, children, and adults with FBS observed from 2 to 25 years with those reported in the literature. ... This suggested that Fanconi-Bickel syndrome is genetically heterogeneous and that there may be another subtype of PHK deficiency (possibly associated with a distinctive genotype) that gives rise to hepatorenal glycogenosis. ... As in classic galactosemia, Fanconi syndrome was present. However, galactose restriction did not restore renal tubular function or the children's general condition to normal. ... For additional information about the molecular genetics of the Fanconi-Bickel syndrome, see 138160. Fukumoto et al. (1988) localized the GLUT2 gene to chromosome 3q26.1-q26.3 by somatic cell hybridization and in situ hybridization.
Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. ... When the body needs sugar again, glycogen is transformed back into glucose for use. People with Fanconi Bickel syndrome do not store the appropriate amount of glycogen. Therefore, Fanconi Bickel syndrome is known as a glycogen storage disease . ... Later in life, children may have short stature and a swollen liver and spleen (hepatosplenomegaly). Fanconi Bickel syndrome is caused by mutations to the S LC2A2 gene and is inherited in an autosomal recessive manner.
Organic dust toxic syndrome Specialty Pulmonology Organic dust toxic syndrome is a potentially severe flu-like syndrome originally described in farmers, mushroom workers, bird breeders and other persons occupationally exposed to dusty conditions. ... Headache , rhinitis , conjunctivitis and keratitis can also be present, and skin irritation may occur in those handling grain. [1] Respiratory function may worsen to the point where hypoxia occurs, and damage to the airways may lead to non-cardiogenic pulmonary edema one to three days post exposure. [1] Laboratory investigations may show a raised white cell (and specifically neutrophil ) count, while a chest X-ray is often normal or shows minimal interstitial infiltration . [1] Causes [ edit ] An inflammatory reaction of the airways and alveoli , the mechanism of organic dust toxic syndrome is thought to be toxic rather than autoimmune in origin. [2] The airways are exposed to high concentrations of organic dust created by some form of disturbance or mechanical process. ... Management on the whole is preventive, by limiting exposure to mouldy environments with ventilation, or by wearing respiratory protection such as facemasks. [1] History [ edit ] It was recognised as a distinct clinical syndrome in the 1980s. Previously, cases had been reported and given various names such as pulmonary mycotoxicosis, silo unloader’s syndrome, grain fever, malt fever, toxin fever, humidifier fever, mill fever, toxic alveolitis or allergic alveolitis. [1] In 1994, the National Institute for Occupational Safety and Health published case reports and highlighted the urgency for study of the syndrome. [3] Research and data collection in the agricultural industry is difficult, as many workers are casual. [2] References [ edit ] ^ a b c d e f g Seifert SA, Von Essen S, Jacobitz K, Crouch R, Lintner CP (2003). "Organic dust toxic syndrome: a review". Journal of Toxicology: Clinical Toxicology . 41 (2): 185–93. doi : 10.1081/clt-120019136 . ... "Request for Assistance in Preventing Organic Dust Toxic Syndrome" . DHHS (NIOSH) Publication Number (94–102).
Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. ... Other features that may occur in Sheldon-Hall syndrome include extra folds of skin on the neck (webbed neck ) and short stature. Sheldon-Hall syndrome does not usually affect other parts of the body, and intelligence and life expectancy are normal in this disorder. Frequency The prevalence of Sheldon-Hall syndrome is unknown; however, it is thought to be the most common type of distal arthrogryposis. About 100 affected individuals have been described in the medical literature. Causes Sheldon-Hall syndrome can be caused by mutations in the MYH3 , TNNI2 , TNNT3 , or TPM2 gene.
A number sign (#) is used with this entry because of evidence that congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) is caused by heterozygous mutation in the NALCN gene (611549) on chromosome 13q33. Description CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). Clinical Features Chong et al. (2015) reported 14 unrelated children with a similar congenital disorder characterized by severe contractures of the limbs, abnormal facial features, hypotonia, and variable degrees of developmental delay. Characteristic facial features included downslanting palpebral fissures, broad nasal bridge, anteverted nasal tip, large nares, short columella, long philtrum, micrognathia, pursed lips, H-shaped chin dimpling, deep nasolabial folds, and full cheeks.
Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of cleft palate and mental retardation, respectively. ... The proband also had Dandy-Walker anomaly, which raised the question of whether this anomaly is part of the spectrum of distal arthrogryposis type 5 or whether the Aase-Smith syndrome (147800), which has Dandy-Walker anomaly as a conspicuous feature, belongs to the distal arthrogryposis spectrum. ... Castori et al. (2009) suggested that DA5 may have a very mild musculoskeletal phenotype and that it should be considered in the differential diagnosis of congenital contracture syndromes even in the absence of obvious distal joint involvement. ... In the Dutch patient described by Schrander-Stumpel et al. (1993) and another patient diagnosed with DA5, McMillin et al. (2014) identified heterozygosity for a recurrent DA3-associated mutation in the PIEZO2 gene, R2686H (613629.0003), and suggested that the correct diagnosis in those patients was DA3 (Gordon syndrome). Noting that 3 syndromes with overlapping features, DA3, DA5, and MWKS, are all caused by heterozygous mutation in the PIEZO2 gene, McMillin et al. (2014) proposed that they share a common developmental mechanism and may represent variable expressivity of the same condition.
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. ... Differential diagnosis Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features ( e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome; see these terms).
The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. ... The shape of the mouth and chin was different from that of DA2A (also known as Freeman-Sheldon syndrome; FSS); no members of the family had feeding difficulties at birth or underwent surgical revision of the mouth, which are nearly universal features of children with FSS. ... Two affected members had severe hand and foot involvement as well as craniofacial changes compatible with a diagnosis of Freeman-Sheldon syndrome (193700). INHERITANCE - Autosomal dominant GROWTH Height - Short stature HEAD & NECK Face - Triangular face - Long philtrum - Small, prominent chin - Small mandible - Micrognathia Ears - Attached ear lobules Eyes - Downslanting palpebral fissures Nose - Prominent nasolabial folds - Broad nasal bridge - Broad nasal root Mouth - Small mouth - High-arched palate Neck - Webbed neck SKELETAL - Joint contractures - Precocious arthrosis Spine - Scoliosis (less common) Limbs - Ulnar wrist deviation Hands - Severe camptodactyly - Ulnar deviation - Overriding fingers (neonate) - Thumb adduction - Contractures of the proximal interphalangeal (PIP) joints - Contractures of the metacarpophalangeal joints - Hypoplastic or absent interphalangeal creases Feet - Talipes equinovarus - Calcaneovalgus deformities - Vertical talus - Metatarsus varus - Clubfoot MOLECULAR BASIS - Caused by mutation in the troponin I, fast-twitch skeletal muscle isoform, gene (TNNI2, 191043.0001 ) - Caused by mutation in the troponin T3, fast skeletal muscle gene (TNNT3, 600692.0001 ) - Caused by mutation in the myosin heavy chain 3 gene (MYH3, 160720.0005 ) - Caused by mutation in the tropomyosin 2 gene (TPM2, 190990.0004 ) ▲ Close
Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus).
Sheldon-Hall syndrome , also known as distal arthrogryposis type 2B, is characterized by joint deformities (contractures) that restrict movement in the hands and feet. ... Intelligence and life expectancy are not usually affected. Sheldon-Hall syndrome can be caused by mutations in the MYH3 , TNNI2 , TNNT3 , or TPM2 gene.
Buschke-Ollendorff syndrome is a hereditary disorder that primarily affects the skin and bones. ... They tend to appear in childhood and are widespread in people with Buschke-Ollendorff syndrome. In some cases, the nevi are subtle and hard to feel. ... Other bone abnormalities can also occur with Buschke-Ollendorff syndrome, although they are less common. ... Causes Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene. ... It is unclear how the increased signaling is related to the development of connective tissue nevi in people with Buschke-Ollendorff syndrome. Learn more about the gene associated with Buschke-Ollendorff syndrome LEMD3 Inheritance Pattern This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Entrapment of the median nerve causes carpal tunnel syndrome , which is characterized by numbness in the thumb, index, middle, and half of the ring finger. ... Retrieved 4 May 2014 . ^ Miller, Theodore T.; Reinus, William R. (2010). "Nerve Entrapment Syndromes of the Elbow, Forearm, and Wrist". ... PMID 27398787 . ^ "Guyon's Canal Syndrome" . ^ a b Shea JD, McClain EJ (1969). ... "Muscle Atrophy at Diagnosis of Carpal and Cubital Tunnel Syndrome". The Journal of Hand Surgery . 32 (6): 855–8. doi : 10.1016/j.jhsa.2007.03.009 . ... External links [ edit ] Classification D ICD - 10 : G56.2 ICD - 9-CM : 354.2 MeSH : D017769 External resources Patient UK : Ulnar nerve entrapment v t e Diseases relating to the peripheral nervous system Mononeuropathy Arm median nerve Carpal tunnel syndrome Ape hand deformity ulnar nerve Ulnar nerve entrapment Froment's sign Ulnar tunnel syndrome Ulnar claw radial nerve Radial neuropathy Wrist drop Cheiralgia paresthetica long thoracic nerve Winged scapula Backpack palsy Leg lateral cutaneous nerve of thigh Meralgia paraesthetica tibial nerve Tarsal tunnel syndrome plantar nerve Morton's neuroma superior gluteal nerve Trendelenburg's sign sciatic nerve Piriformis syndrome Cranial nerves See Template:Cranial nerve disease Polyneuropathy and Polyradiculoneuropathy HMSN Charcot–Marie–Tooth disease Dejerine–Sottas disease Refsum's disease Hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsy Familial amyloid neuropathy Autoimmune and demyelinating disease Guillain–Barré syndrome Chronic inflammatory demyelinating polyneuropathy Radiculopathy and plexopathy Brachial plexus injury Thoracic outlet syndrome Phantom limb Other Alcoholic polyneuropathy Other General Complex regional pain syndrome Mononeuritis multiplex Peripheral neuropathy Neuralgia Nerve compression syndrome
Anti-synthetase syndrome Other names Anti-Jo1 syndrome [1] Specialty Immunology Anti-synthetase syndrome is an autoimmune disease associated with interstitial lung disease , dermatomyositis , and polymyositis . [2] [3] Contents 1 Signs and symptoms 2 Pathogenesis 2.1 Antisynthetase antibodies 3 Diagnosis 4 Treatment 5 Prognosis 6 References 7 External links Signs and symptoms [ edit ] As a syndrome , this condition is poorly defined. ... Treatment [ edit ] Unfortunately, treatment for the anti-synthetase syndrome is limited, and usually involves immunosuppressive drugs such as glucocorticoids . For patients with pulmonary involvement, the most serious complication of this syndrome is pulmonary fibrosis and subsequent pulmonary hypertension . ... "The anti-synthetase syndrome". Revue des Maladies Respiratoires (in French). 19 (3): 371–374. ... "Clinical manifestations of anti-synthetase syndrome positive for anti-alanyl-tRNA synthetase (anti-PL12) antibodies: a retrospective study of 17 cases" .
Epidemiology Prevalence and annual incidence are not known. AS syndrome represents a subset of polymyositis and dermatomyositis (PM, DM, see these terms), disorders which have estimated prevalence of about 1/4,650. About a quarter of these patients may have AS syndrome, providing a prevalence estimate of 1/25,000 - 1/33,000 worldwide. ... HLA-DRB1*0301, DQA1*0501 and DQB1*0201genes are risk factors for the development of anti-Jo-1+ AS syndrome. Diagnostic methods Patients are mostly positive for one of the seven antisynthetase autoantibodies that have been identified; anti-Jo-1 is the most common (70% of the cases). ... Absence of myositis or ILD does not exclude the diagnosis of AS syndrome. Diagnosis is considered probable in patients with ILD and/or inflammatory myopathy in the presence of anti-ARS. ... There is no consensus on treatment regimens in AS syndrome. Depending on the presentation and severity, drug therapy regimens may include azathioprine, methotrexate, cyclophosphamide, cyclosporine, tacrolimus, mycophenolate mofetil, or rituximab.
Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. ... The exact underlying cause is unknown; however, the production of autoantibodies (antibodies that attack normal cells) that attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. These autoantibodies may arise after viral infections, or patients may have a genetic predisposition.
A number sign (#) is used with this entry because some cases of hypereosinophilic syndrome are caused by fusion between the FIP1-like-1 (FIP1L1; 607686) and platelet-derived growth factor receptor-alpha (PDGFRA; 173490) genes. ... The syndrome is more common in men than women (ratio of 9 to 1) and occurs predominantly between the ages of 20 and 50 years. ... The clonality of hypereosinophilic syndrome has been demonstrated in some cases by clonal karyotypic abnormalities and X-inactivation assays (Luppi et al., 1994; Chang et al., 1999). ... Clinical Management Gleich et al. (2002) reported that 4 of 5 cases of hypereosinophilic syndrome responded to imatinib (Gleevec, Novartis), a tyrosine kinase inhibitor. ... In 3 patients with a hypereosinophilic syndrome and dermatologic manifestations, Plotz et al. (2003) reported the effect of mepolizumab, a neutralizing anti-interleukin-5 antibody.
A rare hematologic disease characterized by eosinophilia without evidence of clonality persisting for at least six months, for which no underlying cause can be identified. The condition is associated with signs of organ damage and dysfunction. Clinical manifestations are highly variable, depending on the organ systems involved, and include rapidly developing, life-threatening cardiovascular or neurological complications.
PDGFRA -associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown.
The term is from Greek ἀ- "lack of" plus μέλος (plural: μέλεα or μέλη) "limb" Contents 1 Symptoms 1.1 Description 2 Causes 3 Management 4 See also 5 External links 6 References 7 External links Symptoms [ edit ] The diagnosis of tetra-amelia syndrome is established clinically and can be made on routine prenatal ultrasonography. WNT3 is the only gene known to be associated with tetra-amelia syndrome. Molecular genetic testing on a clinical basis can be used to diagnose the incidence of the syndrome. ... Causes [ edit ] The complete absence of an arm or leg in amelia occurs as a result of the limb formation process being either prevented or interrupted very early in the developing embryo: between 24 and 36 days following fertilization. [2] Tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance - that is, the parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. [3] In a few cases, amelia may be attributed to health complications during the early stages of pregnancy, including infection, failed abortion or complications associated with removal of an IUD after pregnancy, or use of teratogenic drugs, such as thalidomide . [4] Management [ edit ] A prosthesis can be given to compensate for the missing limb(s). ... print=true [ permanent dead link ] ^ "Tetra-amelia syndrome" . ^ KAN Y, SEKINE H (November 1963). ... External links [ edit ] v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum
Paragangliomas in these patients are mainly localized to the abdomen whereas somatostatinomas are found in the second portion of the duodenum , as shown by imaging or biochemistry. [1] This syndrome is of special interest as finding more than one type of neuroendocrine tumor in one individual is unusual. [1] Such co-occurrences are usually seen in patients carrying hereditary syndromes like multiple endocrine neoplasia (MEN), neurofibromatosis 1 (NF1), or von Hippel-Lindau (VHL) disease. [2] [3] Contents 1 Genetic pathway 2 Diagnosis 2.1 Polycythemia 2.2 Tumors 2.3 Other findings 3 Treatment 4 Research direction 5 References Genetic pathway [ edit ] Mutations in the genes encoding alpha subunits of hypoxia-inducible factors (HIF-alpha) have not previously been identified in any cancer. [4] In the Pacak–Zhuang syndrome, patients have somatic gain of function mutations in the genes encoding for HIF2A , leading to prolonged HIF-2α activity and, thus, an increase in its half-life. [5] While each patient has different nucleic acid changes, all patients are found to have a point mutation near the prolyl-sensing residue site, responsible for HIF-2α hydroxylation. [1] Diagnosis [ edit ] Polycythemia [ edit ] Patients with this syndrome usually have early onset of secondary polycythemia, most of them at birth. ... From these symptoms, patients undergo biochemical testing from blood and urine samples as well as functional and anatomical imaging to confirm tumor presence. [7] Other findings [ edit ] Some patients with this syndrome have also been found to have ocular abnormalities, including bilateral fibrosis upon the optic disc and dilated capillaries. [8] Treatment [ edit ] The most common therapies for secondary polycythemia are phlebotomies [9] and, for paraganglioma and/or somatostatinoma in this cohort of patients, surgery accompanied by antihypertensive medication. [1] Research direction [ edit ] Researchers are presently seeking to better characterize the syndrome. [10] Currently, this syndrome is known to only manifest in females. References [ edit ] ^ a b c d Pacak K, Jochmanova I, Prodanov T, et al: New syndrome of paraganglioma and somatostatinoma associated with polycythemia. ... An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res 2012; 44:328-333. ^ http://irp.nih.gov/catalyst/v21i3/research-briefs ^ Jochmanova I, Yang C, Zhuang Z, Pacak K. ... "A new twist in neuroendocrine tumor research: Pacak-Zhuang syndrome, HIF-2α as the major player in its pathogenesis and future therapeutic options" .
Type of visual impairment Riddoch syndrome Specialty Ophthalmology Riddoch syndrome (also known as the Riddoch phenomenon ) is a form of visual impairment often caused by lesions in the occipital lobe which limit the sufferer's ability to distinguish objects. ... The subject may only have awareness of the movement without visual perception of it ( gnosanopsia ), [2] or the general shape of a moving object may be perceivable as a shadow like outline. [3] The syndrome is named after George Riddoch who had been a temporary officer in the Royal Army Medical Corps and examined soldiers who were blinded by gunshot wounds to their brains. [2] At least one patient was able to use a rocking chair—putting non-moving surroundings in relative motion to her head—to improve her motion perception. ... Oxford University Press . 40 (1): 15–57. doi : 10.1093/brain/40.1.15 . ^ a b Zeki, Semir; ffytche, Dominic H. (1998). "The Riddoch syndrome: insights into the neurobiology of conscious vision" . ... WAMU . v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma Onchocerciasis This article about the eye is a stub .
Human disease HUPRA syndrome Other names Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome HUPRA syndrome is inherited via autosomal recessive manner Frequency Less than one in a million HUPRA syndrome is a rare syndrome that was first described in 2010 in two infants of Palestinian origin from the same village in the Jerusalem area. [1] One of the two infants' parents were related . [1] It was later described in a third infant from the same village, whose parents were not related. [1] The acronym stands for H yper u ricemia , P ulmonary hypertension , R enal failure in infancy and A lkalosis . And it's due to mutations in the mitochondrial SARS enzyme . [1] It is an autosomal recessive disease, that has a prevalence of less than one in a million. [2] One in fifteen of the village's inhabitants were found to carry the genetic mutation. [1] Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 See also 6 References 7 External links Presentation [ edit ] Those affected were born prematurely , and suffered from feeding difficulties and developmental delays . [1] They presented with progressive kidney disease and primary pulmonary hypertension , and ultimately died. [1] Genetics [ edit ] The cause of this condition is a mutation in the SARS2 gene ( seryl-tRNA synthetase enzyme) which has to do with protein translation . Furthermore, the HUPRA syndrome is autosomal recessive in its inheritance pattern. ... "Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome" . The American Journal of Human Genetics . ... PMID 21255763 . ^ "Orphanet: Hyperuricemia pulmonary hypertension renal failure alkalosis syndrome" . www.orpha.net . Retrieved 20 January 2017 . ^ "OMIM Entry - # 613845 - HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS" . www.omim.org . ... External links [ edit ] Classification D ICD - 10 : N15-8 OMIM : 613845 External resources Orphanet : 363694 v t e Mitochondrial diseases Carbohydrate metabolism PCD PDHA Primarily nervous system Leigh disease LHON NARP Myopathies KSS Mitochondrial encephalomyopathy MELAS MERRF PEO No primary system DAD MNGIE Pearson syndrome Chromosomal OPA1 Kjer's optic neuropathy SARS2 HUPRA syndrome TIMM8A Mohr–Tranebjærg syndrome see also mitochondrial proteins v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline
A number sign (#) is used with this entry because of evidence that hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome (HUPRAS) is caused by homozygous mutation in the SARS2 gene (612804), which encodes mitochondrial seryl-tRNA synthetase, on chromosome 19q13.2. Description HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. ... The disorder was progressive, and all 3 patients died before age 14 months. Inheritance HUPRA syndrome is an autosomal recessive disorder (Belostotsky et al., 2011). Molecular Genetics In an infant boy, born of nonconsanguineous Palestinian parents, with HUPRA syndrome, Belostotsky et al. (2011) identified a homozygous mutation in the SARS2 gene (D390G; 612804.0001). Within the extended family, in an infant girl with HUPRA syndrome, born of first-cousin Palestinian parents, the authors identified homozygosity for the same D390G mutation.
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy.
Njølstad syndrome Njølstad syndrome is a syndrome characterized by non-immune hydrops fetalis (NIHF), congenital pulmonary lymphangiectasia (CPL). [1] Clinical features found in Njølstad syndrome include: facial and limbs lymphedema , [1] [2] facial abnormalities (thin upper lip, protruding ears), pectus excavatum and vulvar and labial edema. [3] It is named after the Norwegian pediatrician Pål Rasmus Njølstad who published a report on three siblings with the condition in 1997. [1] References [ edit ] ^ a b c Njølstad, P. ... H.; Witte, C. L. (December 2003). "Syndromic classification of hereditary lymphedema" (PDF) .
SUCLG1 -related mtDNA depletion syndrome is inherited in an autosomal recessive manner. ... Option 1 The phenotypes of SUCLG1 -related mtDNA depletion syndrome and SUCLA2 -related mtDNA depletion syndrome are difficult to distinguish and both are associated with elevated MMA. ... See hyperlinked GeneReview or OMIM phenotype entry for more information. Among mtDNA depletion syndromes, methylmalonic acid (MMA) is elevated only in SUCLG1 - and SUCLA2 -related mtDNA depletion syndromes. The phenotypes of SUCLG1 -related mtDNA depletion syndrome and SUCLA2 -related mtDNA depletion syndrome may be difficult to be differentiate (see Table 4). ... Of note, hepatopathy and cardiomyopathy, which have been reported in SUCLG1 -related mtDNA depletion syndrome, have not been described in SUCLA2 -related mtDNA depletion syndrome [Carrozzo et al 2016].
Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome. Diagnosis/testing. The clinical diagnosis of MPPH syndrome can be established in individuals with the two core features: megalencephaly and BPP. ... Variable degrees of ventriculomegaly are seen in almost all children with MPPH syndrome. Nearly 50% of reported individuals with MPPH syndrome have frank hydrocephalus requiring neurosurgical placement of a shunt. ... Almost all reported individuals with MPPH syndrome have intellectual disability that ranges from mild to severe. ... Prevalence MPPH syndrome has been reported to date in 62 individuals from various ethnic backgrounds. ... Disorders to Consider in the Differential Diagnosis of MPPH Syndrome View in own window Disorder Gene MOI Clinical Features of the Disorder Also in MPPH syndrome Not in MPPH syndrome MCAP syndrome (See PIK3CA -Related Segmental Overgrowth.)