Only 28 cases were detailed concerning the precise clinical presentation in the literature. [clinicaltrials.gov]

Conclusion Coats Plus syndrome can have a variable phenotypic presentation, including retinal vascular findings. [tandfonline.com]

LCC usually presents in the young, although the onset age varies widely from 1 month to 71 years [3]. [e-jmd.org]

Conclusions: Coats plus syndrome presenting with vascular malformations should always be kept in mind in a patient with recurrent gastrointestinal bleeding and accompanying systemic physical findings. [pubmed.ncbi.nlm.nih.gov]

We speculate the important role of Notch signaling in this complex phenotypic presentation of Coats plus syndrome and dextrocardia. [ncbi.nlm.nih.gov]

• 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]

  An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome. J Clin Endocrinol Metab. 2015;100(5):E789–98. [karger.com]

  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]

  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]

  This case also illustrates the importance of WES in the diagnosis of children with extreme short stature. [abstracts.eurospe.org]

• Poor Growth

  Additional features were skeletal and hematologic abnormalities, intestinal bleeding, and poor growth. Neuropathologic examination showed extensive calcinosis and abnormal small vessels with thickened, hyalinized wall and reduced lumen. [ncbi.nlm.nih.gov]

• Turkish

  Publication types MeSH terms Substances Supplementary concepts LinkOut - more resources Full Text Sources Turkish National Pediatric Society [pubmed.ncbi.nlm.nih.gov]

• 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]

  AB - In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. [research.manchester.ac.uk]

  hair, dystrophic nails, and primeval splashes of intracranial calcification. [archive-ouverte.unige.ch]

  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]

• Thin Skin

  At 23 yrs she presented with a height of 117.7 cm (-7.0 SDS), progeroid appearance, elevated upper/lower segment ratio (1.2), BMI -2.3 SDS, head circumference -2.0 SDS, breast stage 2, thin skin and hair, microdontia/oligodontia, high palate, right thumb [abstracts.eurospe.org]

• Psychiatric Manifestation

  Psychiatric manifestations and involuntary movements are uncommonly reported. [e-jmd.org]

• Cerebral Calcification

  Extensive cerebral calcifications and leukoencephalopathy have been reported in two rare disorders Coats plus and leukoencephalopathy with calcifications and cysts. [ncbi.nlm.nih.gov]

  Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument. [research.manchester.ac.uk]

  Association of the congenital bone marrow failure syndromes with retinopathy, intra-cerebral calcification and progressive neurological impairment. [journals.healio.com]

  At the age of 37 years, cerebral calcifications were detected, but she exhibited no cognitive or motor problems. [pubfacts.com]

  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]

• Stiff Gait

  This can lead to epilepsy, balance difficulties, and a stiff gait. Speech can be abnormal. There may be anemia, fragility of the bones with an increased risk of fractures. The hair may be sparse and the nails are sometimes abnormally formed. [disorders.eyes.arizona.edu]

• Bradykinesia

  Associated clinical features include symmetrical onset, infrequent or atypical tremor, prominent rigidity in axial musculature, bradykinesia, early postural instability, supranuclear gaze palsy, early autonomic failure, pyramidal affection, cerebellar [ncbi.nlm.nih.gov]

• Extrapyramidal Symptoms

  symptoms (dystonia), and ischemic and hemorrhagic strokes [3]. [e-jmd.org]

• Choreoathetoid Movements

  The video shows bilateral choreoathetoid movements of the upper limbs (right > left), which demonstrates stereotypy. [e-jmd.org]

Despite numerous workups, no specific etiology was identified for the GI bleeding. Conclusion: Previous reports have not investigated cause of GI bleeding, since it is extremely rare in the literature. [miami.pure.elsevier.com]

A referral to a geneticist led to further genetic workup using wholegenome sequencing, which detected two recessively inherited compound heterozygous variants, NR_033294.1 n.*9C>T and n.24C>T, in the nonprotein coding gene SNORD118, diagnostic of LCC. [e-jmd.org]

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

Extensive workup of the patient was undertaken. It included a muscle biopsy for suspected mitochondrial disorder. [academic.oup.com]

• Small Liver

  Liver ultrasound revealed a small liver with diffusely heterogeneous structure suggesting hepatic chronic disease, with normal Doppler study, finally FibroScan showed liver fibrosis stage F3 with no signs of portal hypertension. [casereports.bmj.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]

Octreotide treatment is an important option for patients with life threatening gastrointestinal system bleeding. Long term use of octreotide treatment can be used successfully in selected pediatric cases. [pubmed.ncbi.nlm.nih.gov]

Is There a Treatment for CRMCC? There is no treatment that can cure CRMCC and treatment is symptomatic. Helpful Resources Genetics Home Reference Wikipedia Leukodystrophy Care Network [huntershope.org]

He said: “I looked at private hospitals but a friend of mine had the same treatment at Will Adams NHS Treatment Centre and he told me how good they were.” [practiceplusgroup.com]

With early treatment, it’s possible to restore some vision. Some treatment options are: Laser surgery (photocoagulation) This procedure uses a laser to shrink or destroy blood vessels. [healthline.com]

Diagnosis and Prognosis: Ophthalmologists, neurologists, pediatricians, and orthopedists are likely to collaborate in the diagnosis and care of patients with this condition. Individuals must be monitored for spontaneous hemorrhages. [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 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]

Treatment is symptomatic and the disease has a poor prognosis. Title: Lactante con calcificaciones intracraneales y retinopatia. Introduccion. [pubmed.ncbi.nlm.nih.gov]

Its precise genetic etiology was discovered in 2012: autosomal recessive mutation of the CTC1 gene. Publications about this syndrome are very few, and consist only of case reports, or small series of cases. [clinicaltrials.gov]

The etiology of renal failure was not discovered, and the patient was being worked up for a kidney transplant. The patient required admission after deterioration of nutritional status with a BMI of 14.3. [miami.pure.elsevier.com]

[…] have suggested that the presence of bone marrow failure and telomere dysfunction in patients with CPS could strongly support a relationship between the disruption of telomere homeostasis and the ocular pathology and that the TERC gene deletion could be etiologically [humangeneticsjournal.com]

These characteristics help to clearly identify ROP as a causative etiology. The classic finding in FEVR is peripheral retinal capillary nonperfusion. [reviewofophthalmology.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]

This in turn can cause secondary glaucoma, cataract and, ultimately, blindness of the eye.[1][2] Epidemiology[edit] This syndrome is usually sporadic although families with two or more affected siblings of both sexes are known.[1][3] History[edit] A child [en.wikipedia.org]

"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]

Epidemiology Brown’s syndrome is not uncommon, accounting for 1 of every 450 cases of congenital strabismus. It affects either eye or either sex equally and is bilateral in 10% (2, 7, 8). [neuroophthalmology.ca]

[…] 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]

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]

[citation needed] Pathophysiology[edit] Angiomas and numerous abnormal, small, dilated telangiectatic vessels with thickened, sclerotic and calcified walls have been found in those brain areas which also show calcifications.[1][2] By analogy to Coats [en.wikipedia.org]

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]

Additional information Funding This work was supported by NIH Center Core under Grant P30EY014801; Research to Prevent Blindness-Unrestricted under Grant (GR004596); and U.S. Department of Defense under Grant W81XWH-13-1-0048. [tandfonline.com]

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. [encyclopedia.pub]

Ultimately, the degree of immunocompromise for the patient is determined by the treating provider, and preventive actions are tailored to each individual and situation. [cdc.gov]

To prevent telomere shortening, telomerase, a ribonucleoprotein enzyme, extends telomeres by reverse transcription. This is crucial for telomere length maintenance in germ cells, stem cells and cancers. [imb.sinica.edu.tw]