Post concussion syndrome was not listed as a diagnosis within the diagnostic and statistical manual of mental disordersfifth edition dsm5 american psychiatric association, 20. Kcnj8 encodes the pore forming subunit of one of the atpsensitive inwardly rectifying potassium k atp channels. Fatal second impact syndrome in rowan stringer, a 17year. Concussion ss lasting over 1 month most people feel better within a couple of. Yale university school of medicine, center for advanced instructional media, 19872000 11. Igf1 269 gl increased from 51 gl pretreatment with persistent mildly. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Clinical features of repetitive traumatic brain injury and chronic traumatic encephalopathy.
What links here related changes upload file special pages permanent link page information. Jun 08, 2012 cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Enable javascript to view the expandcollapse boxes. Cantu syndrome was first recognized in 1982 by doctor cantu, working in mexico. Clinical features of repetitive traumatic brain injury and. Lighter brain than adults so less inertia more acceleration for given force. Clinicalrelevance purpose methods the diagnosticcredibilityofsecondimpact. Dominant missense mutations in abcc9 cause cantu syndrome. Second impact syndrome sis is associated with malignant brain swelling and usually occurs in young athletes with one or more prior, recent concussions. These changes likely alter the structure of the protein and its ability to regulate the.
Cantu, ma, md, facs, facsm, faans clinical professor of neurosurgery and neurology cofounderclinical diagnostics and therapeutics leader ctead center boston university school of medicine medical director and director of clinical research dr. Korts concussion management protocol parent information. Cantu syndrome and related disorders ncbi bookshelf. The documents contained in this web site are presented for information purposes only. It is also known as hirsutismosteochondrodysplasiacardiomegaly. Abcc9 also known as sur2 is located on human chromosome 12p12. For kathy grange, md, every day is a professional adventure, solving medical mysteries and pursuing diagnoses of rare diseases.
Mutation of kcnj8 in a patient with cantu syndrome with. Cantu syndrome is caused by mutations in abcc9 sciencedirect. Cantu syndrome is a rare genetic condition which has been reported in the medical literature in less than 50 people. The cardiomyopathies are a group of disorders characterized by disease of the heart muscle. Oct 28, 20 mutation of kcnj8 in a patient with cantu syndrome with unique vascular abnormalities support for the role o f katp channels in this condition. Traumatic brain injury and other brain disorders billie a schultz, md is a consultant in the department of physical medicine and rehabilitation at the mayo clinic in rochester, mn dr. The number of years of exposure to contact sports, not the number of concussions, is significantly associated with more severe tau pathology in cte, suggesting that repetitive head trauma, including subconcussive injury, is. Cs includes dilated vasculature, marked cardiac hypertrophy, and other cardiovascular abnormalities. People with cantu syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks. Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal. Cantu syndrome is a rare disorder characterized by congenital hypertrichosis. Hypertrichosis can be either congenital present at birth or acquired later in life. What we can do for cantu 8312014 for seven years, randall and rachel lamfers struggled to get a diagnosis for their son, noah, who was born prematurely, had problems with pulmonary hypertension and needed a breathing tube. Shortterm followup of a brazilian patient with cantu.
Abcc9 gene provides a blueprint for creating the sulfonylurea receptor 2 in the human body. Laboratory test requisition form please print clearly. Secondimpact syndrome sis occurs when an athlete who sustains a head injury often a. Cardiomyopathy can be caused by inherited, genetic factors, or by nongenetic acquired causes such as infection or trauma. Cantu syndrome cs is caused by gainoffunction gof mutations in genes encoding poreforming kir6. Kcnj8 sequence variations are traditionally associated with jwave syndromes, involving ventricular fibrillation and sudden cardiac death. Cantu syndrome abcc9 1784 1785 1786 cantu syndrome, kcnj8 related kcnj8 2226 2227 2228 capillary malformation arteriovenous malformation rasa1 1075 1076 1492 cardiac valvular dysplasia, xlinked flna 1077 5275 5276 cartilagehair hypoplasia rmrp 1078 1895 1896.
Cantu syndrome, kcnj8 related kcnj8 2226 2227 2228 capillary malformation arteriovenous malformation rasa1 1075 1076 1492 cardiac valvular dysplasia, xlinked flna 1077 5275 5276 cartilagehair hypoplasia rmrp 1078 1895 1896 catelmanzke syndrome tgds 2012 20. Glibenclamide reverses cardiovascular abnormalities of cantu. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area. Because a concussion and its symptoms result from temporary, reversible cytoskeletal and metabolic derangements that involve shifts. Kathy grange for kathy grange, md, every day is a professional adventure, solving medical mysteries and pursuing diagnoses of rare diseases. How to distinguish postconcussion syndrome from cte. Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Jan 01, 2010 cantu syndrome is a rare disorder characterized by congenital hypertrichosis. Cantu syndrome is a rare condition whose main features are hypertrichosis, cardiac anomalies and wide ribs. If this is the first time you use this feature, you will be asked to authorise cambridge core to connect with your account. Table 1 from clinical features of repetitive traumatic brain. Three from below headache, dizziness, malaise, fatigue, noise intolerance.
Cantu syndrome is a rare autosomal dominant disorder caused by missense variants in abcc9 and kcnj8. In november 20, analysis of noahs dna finally gave them a diagnosis. However, it has been included within the icd10 and the symptoms involve unspecific criteria iverson, 2006. There is currently no targeted therapy, and it is unknown whether cardiovascular. Shortterm followup of a brazilian patient with cantu syndrome. Pdf dominant missense mutations in abcc9 cause cant. For language access assistance, contact the ncats public information officer. Four children have been described and we now present details of a further three. Common symptoms include fatigue, dizziness, headache, light and noise sensitivity, mental fogginess, depression, irritability, and impairments of executive functioning and concentration. Genetic testing for cardiac ion channelopathies ahs 2025.
Cantu syndrome is a rare genetic disorder caused by pathogenic variants in the. Laboratory test requisition form please print clearly and. Weak necks that dont distribute force to the body well plus poor headbody ratio human bobblehead that increases risk of injury to brain and neck 4. Community health consequences of a secondimpact syndrome death following concussion. It is characterized by hypertrichosis, neonatal macrosomia, coarse facial features, and. Cantu syndrome genetic and rare diseases information center. Cantu syndrome genetic and rare diseases information. Head injury usually severe enough to cause loss of consciousness within 4 weeks of symptom onset b. Cantu syndrome apparently is inherited in an autosomal dominant fashion and appears to be affected by the abcc9 gene. Furthermore, additional large groups of individuals prone to repetitive head trauma, such as military veterans, may be at risk for cte. Mentoring, as other research studies have noted allows new faculty members to. The features of the disorder vary among affected individuals. Taken together, our findings show that cantu syndrome is caused by dominant mis sense mutations in abcc9.
How to distinguish postconcussion syndrome from cte when to. Caused by a bump, blow, or jolt to the head, or by a hit to the body that causes the head and brain to move rapidly back and forth. Mutation of kcnj8 in a patient with cantu syndrome with unique vascular abnormalities support for the role of katp channels in this condition author links open overlay panel catherine a. The syndrome was first described in 1982 by dr cantu. Hypertrichotic osteochondrodysplasia, cantu type orphanet. Height, weight, waist circumference, blood pressure, hemoglobin a1c hba1c, and lipids were measured for all participants at baseline and 4 months after the intervention. When the presence or severity of the cardiomyopathy observed in a patient cannot be explained by acquired causes, genetic testing for the inherited forms of cardiomyopathy. Marinakis a peter meinecke c kerstin kutsche c philippe m. Cantu syndrome omim 239850 is a rare autosomal dominant disorder characterized by congenital hypertrichosis. Genes included in the dilated cardiomyopathy multigene panel gene protein inheritance disease association abcc9 atpbinding cassette, subfamily c, member 9 ad dcm, cantu syndrome actc1 actin, alpha, cardiac muscle ad chd, dcm, hcm, lvnc actn2 actinin, alpha2 ad dcm, hcm ankrd1 ankyrin repeat domaincontaining protein 1 ad hcm, dcm cryab. Community health consequences of a secondimpact syndrome. Each of the mutations changes a single protein building block amino acid in the sur2 protein.
Safer soccer white paper concussion legacy foundation. Using an exomesequencing approach applied to one probandparent trio and three unrelated single cases, we identified heterozygous mutations in abcc9 in all probands. Mutations in another gene has also been associated with this disorder. A rare but usually fatal condition second blow to head before brain has healed from initial concussion 3.
The society of thoracic surgeons congenital heart surgery. Schultz is an assistant professor in the college of medicine. Preoccupation with symptoms and fear of brain damage with hypochondrial concern and adaptation of sick role c. Cantu syndrome is a rare congenital disorder characterized by key words. Abcc9 related intellectual disability myopathy syndrome is a. Jun 14, 2016 cantu syndrome cs, characterized by hypertrichosis, osteochondrodysplasia, and multiple cardiovascular abnormalities, is caused by gainoffunction gof mutations in the genes encoding the poreforming kir6. Oct 02, 2014 cantu syndrome and the related disorders acromegaloid facial appearance afa and hypertrichosis and acromegaloid facial features haff are characterized by congenital hypertrichosis. Cantu syndrome interest group genetic and rare diseases. At least 14 mutations in the abcc9 gene have been found to cause cantu syndrome, a rare condition characterized by excess hair growth hypertrichosis, a distinctive facial appearance, and heart defects. Catherine a brownstein division of genetics and genomics, the manton center for orphan disease research, boston childrens hospital, harvard medical school, boston, ma, usa. Pdf dominant missense mutations in abcc9 cause cantsyndrome.
What saunders and harbaugh 18 called the secondimpact syndrome of catastrophic head injury in 1984 was described by schneider in 1973. Cantu syndrome, hypertrichosis, macrocephaly, hyperextensible joints, coarse 11 jan 2018 download pdf the link between cantu syndrome and pituitary adenomas is currently cantu syndrome abcc9 pseudoacromegaly familiar. Cantu syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia. Body mass index, metabolic syndrome, and framingham 10year cvd risk factor scores were also calculated by using standard protocols 18,19. Leads to short or longterm symptoms that appear immediately, or soon after the injury. Katp channel gainoffunction leads to increased myocardial l. A professor of pediatrics, grange is director of the division of genetics and genomic medicine in the department of pediatrics. We show that patients with cs, as well as mice with constitutive cgof or tamoxifeninduced icgof cardiacspecific kir6. Hypertrichosis is an abnormal amount of hair growth over the body. Abcc9 related intellectual disability myopathy syndrome. We report a case of sis in rowan stringer, age 17, a rugby player who sustained a fatal brain injury despite prompt medical therapy including. Cantu syndroom is een erfelijke aandoening gekenmerkt door toegenomen. The gene is located on short arm of chromosome 12 12p12. Pdf cantu syndrome is a rare congenital disorder characterized by hypertrichosis, osteochondrodysplasia, cardiomegaly, macrocephaly.
Cantu syndrome cs is a complex disorder caused by gainoffunction gof mutations in abcc9 and kcnj8, which encode the sur2 and kir6. Cantu syndrome is a rare condition characterized by excess hair growth hypertrichosis, a distinctive facial appearance, heart defects, and several other abnormalities. Cantu syndrome the source washington university in st. Cantu, journalbrain pathology, year2015, volume25 3. Test requisition form with targeted variant testing please.