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Coats Plus Syndrome

Cerebroretinal Microangiopathy with Calcifications and Cysts


Presentation

  • We speculate the important role of Notch signaling in this complex phenotypic presentation of Coats plus syndrome and dextrocardia.[ncbi.nlm.nih.gov]
  • Here, we describe eight previously unreported cases, and present an update on one of the original Coats plus patients to highlight the emerging core clinical features of the "cerebroretinal microangiopathy with calcification and cysts" (CRMCC) phenotype[ncbi.nlm.nih.gov]
  • The majority of affected children present with symptoms and signs relating to the eyes such as leukokoria, redness, irritation and impaired vision, which result from retinal detachment and glaucoma. A minority present with seizures or spasticity.[en.wikipedia.org]
  • Linnankivi et al. [2006] reported 6 patients with CRMCC presenting with transfusion dependent anaemia secondary to occult intestinal bleeding.[doi.org]
  • Presents new pharmacotherapy data and the latest approaches in anti-VEGF therapy for age-related macular degeneration, diabetic retinopathy, and venous occlusive disease.[books.google.com]
Short Stature
  • We conclude that the CRMCC-associated bone disease is characterized by low BMD and pathological fractures with delayed healing, metaphyseal changes, and short stature pre- and postnatally. LRP5 is not a disease-causing gene in CRMCC.[ncbi.nlm.nih.gov]
  • We conclude that the CRMCC‐associated bone disease is characterized by low BMD and pathological fractures with delayed healing, metaphyseal changes, and short stature pre‐ and postnatally.[doi.org]
  • stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature[icd9data.com]
  • However, we note that the degree of short stature, absence of the thumbs and deafness seen in our case have not previously been reported in CRMCC.[doi.org]
  • Get Update Overview Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features.[diseaseinfosearch.org]
Splenectomy
  • Repeated blood transfusions may be needed to control anemia, and thrombocytopenia can be managed with splenectomy. The neurological symptoms are progressive and can lead to severe spasticity, bulbar symptoms and dysarthria within one to two decades.[en.wikipedia.org]
Aspiration
  • Hiroshi Ooba, Tatsuya Abe, Yoshinori Hisamitsu and Minoru Fujiki, Repeated cyst formation in a patient with leukoencephalopathy, cerebral calcifications, and cysts: effectiveness of stereotactic aspiration with Ommaya reservoir placement, Journal of Neurosurgery[doi.org]
Osteopenia
  • Here we report a probable case of CRMCC with pre- and postnatal growth restriction, bilateral exudative retinopathy, a pathognomonic pattern of intracranial calcification, white matter disease, osteopenia with a tendency to fractures, and chronic gastrointestinal[ncbi.nlm.nih.gov]
  • Our results show that the skeletal phenotype in CRMCC includes (1) compromised longitudinal growth pre- and postnatally, (2) generalized osteopenia or early onset low turnover osteoporosis with fragility fractures, and (3) metaphyseal abnormalities that[ncbi.nlm.nih.gov]
  • Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone[ncbi.nlm.nih.gov]
  • The osteopenia and tendency to fractures is also in keeping with the diagnosis.[doi.org]
  • Additional features include poor prenatal growth, preterm birth, anemia, osteopenia and bone fractures, and gastrointestinal bleeding.[en.wikipedia.org]
Sparse Hair
  • In the latter, a progressive formation of parenchymal brain cysts is a special feature, whereas Coats plus is characterized by intrauterine growth retardation, bilateral retinal telangiectasias and exudations (Coats disease), sparse hair, and dysplastic[ncbi.nlm.nih.gov]
  • hair, dystrophic nails, and primeval splashes of intracranial calcification.[doi.org]
  • Some individuals have sparse hair, abnormal pigmentation of the skin, and dysplastic nails as well. Some extraretinal features are also found in patients with dyskeratosis congenita ( 127550 ), and in Labrune syndrome ( 614561 ).[disorders.eyes.arizona.edu]
Sparse Hair
  • In the latter, a progressive formation of parenchymal brain cysts is a special feature, whereas Coats plus is characterized by intrauterine growth retardation, bilateral retinal telangiectasias and exudations (Coats disease), sparse hair, and dysplastic[ncbi.nlm.nih.gov]
  • hair, dystrophic nails, and primeval splashes of intracranial calcification.[doi.org]
  • Some individuals have sparse hair, abnormal pigmentation of the skin, and dysplastic nails as well. Some extraretinal features are also found in patients with dyskeratosis congenita ( 127550 ), and in Labrune syndrome ( 614561 ).[disorders.eyes.arizona.edu]
Cerebral Calcification
  • We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy.[ncbi.nlm.nih.gov]
  • Corboy, Adult Cases of Leukoencephalopathy, Cerebral Calcifications, and Cysts: Expanding the Spectrum of the Disorder, Journal of Neuropathology & Experimental Neurology, 68, 4, (432), (2009).[doi.org]
  • Methods: We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy.[neurology.org]
  • Kinga Karlinger, Ádám Domonkos Tárnoki, Dávid László Tárnoki, Anne Polvi, Anna-Elina Lehesjoki, Andrea Kelemen, László Szegedi, Eszter Turányi, Anita Kamondi and Anna Szűcs, Leukoencephalopathy, cerebral calcifications and cysts: a family study, Journal[doi.org]
  • .: Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.[doi.org]

Workup

  • These patients are often family members of a patient with advanced disease, who are identified during the screening workup for suspected FEVR.[reviewofophthalmology.com]

Treatment

  • Treatment with a combination of oral oestrogen and progesterone ameliorated the gastrointestinal blood loss such that monthly blood transfusions could be stopped.[ncbi.nlm.nih.gov]
  • We characterized the patients’ phenotype, recapitulated it in a zebrafish model and rescued cellular and clinical aspects by the ectopic expression of wild-type STN1 or by thalidomide treatment.[gene-tools.com]
  • Treatment Treatment Options: No treatment for the general condition has been reported. Specific treatment for the retinal vascular and brain lesions might be of benefit.[disorders.eyes.arizona.edu]
  • Diagnosis - Coats plus syndrome Prognosis - Coats plus syndrome Treatment - Coats plus syndrome Resources - Coats plus syndrome Not supplied.[checkorphan.org]

Prognosis

  • Diagnosis - Coats plus syndrome Prognosis - Coats plus syndrome Treatment - Coats plus syndrome Resources - Coats plus syndrome Not supplied.[checkorphan.org]
  • Prognosis The prognosis depends on the extent of the disease with milder, older presenting cases, having a better prognosis, of even spontaneous regression, whereas children under the age of three have a poorer prognosis.[eyewiki.aao.org]
  • […] syndrome is a group of heterogeneous degenerative neurological disorders, which differ from the classical idiopathic Parkinson's disease in certain associated clinical features, poor response to levodopa, distinctive pathological characteristics and poor prognosis[ncbi.nlm.nih.gov]
  • Such deposits have high concentrations of protein, cholesterol, hemosiderin-laden macrophages, and RPE cells with fibrous metaplasia. 16,17 This can lead to subfoveal fibrotic nodules with a particularly poor prognosis.[reviewofophthalmology.com]
  • Prognosis for Coats’ disease The prognosis for Coats’ disease depends on a number of different factors, including how early the condition is diagnosed and how quickly it develops—i.e., how aggressive it is.[eyehealthweb.com]

Etiology

  • These characteristics help to clearly identify ROP as a causative etiology. The classic finding in FEVR is peripheral retinal capillary nonperfusion.[reviewofophthalmology.com]
  • Based on histopathologic findings, some authors believe that cerebral microangiopathy is the possible etiology of LCC [ 6 , 12 ].[link.springer.com]
  • In conclusion, the etiology of LCC remains unknown. In spite of relatively characteristic findings in imaging and histopathological examination, there is no uniformity in the clinical findings noted in the published articles.[scielo.br]
  • The etiology is unknown; in some cases it is difficult to differentiate from Coats plus syndrome and diagnosed as cerebroretinal microangiopathy with calcifications and cysts.[pubfacts.com]
  • Coats disease is a telangiectatic neovascular disease of the retina of unknown etiology that frequently affects unilateral eyes of young males.[eyewiki.aao.org]

Epidemiology

  • "A Population-Based Study of Coats Disease in the United Kingdom I: Epidemiology and Clinical Features at Diagnosis." Eye 24 Dec. 2010: 1797-1801.[medicinenet.com]
  • […] pseudoaneurysm in a child (caused by a hydatid cyst ) Risk factors are similar for almost all lung cancers and include the following: Prolonged asbestos exposure Exposure to industrial elements (eg, gold, nickel) Tobacco smoking Secondary smoke exposure Epidemiology[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children.[books.google.com]
  • It is caused by compound heterozygous mutations in the conserved telomere maintenance component 1 (CTC1) gene, but its exact pathophysiology is still not well understood.[checkorphan.org]
  • Offers the most comprehensive content available on retina, balancing the latest scientific research and clinical correlations, covering everything you need to know on retinal diagnosis, treatment, development, structure, function, and pathophysiology.[books.google.com]

Prevention

  • Symptoms - Coats plus syndrome Causes - Coats plus syndrome Prevention - Coats plus syndrome Not supplied. Diagnosis - Coats plus syndrome Prognosis - Coats plus syndrome Treatment - Coats plus syndrome Resources - Coats plus syndrome Not supplied.[checkorphan.org]
  • The CST complex helps prevent telomeres from being degraded in some cells as the cells divide. Mutations in the CTC1 gene impair the function of the CST complex, which affects the replication of telomeres.[ghr.nlm.nih.gov]
  • Other treatments are designed to prevent or lessen complications of GBS.[encyclopedia.com]
  • Identification of therapeutic strategies that may prevent the aggregation of these proteins and rescue dysfunctional cells has been stressed.[ncbi.nlm.nih.gov]
  • Support and training are necessary for the individual and family caregivers Can it be Prevented? Genetic testing is the only way out.[economictimes.indiatimes.com]

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