MIFTS : Collapse all tables. Ataxia Telangiectasia 12 74 52 53 73 36 54 42 43 15 Louis-Bar Syndrome 56 74 52 25 58 Ataxia-Telangiectasia Variant 58 29 6

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Directory of Open Access Journals Sweden. Las sorderas hereditarias : Algunos apuntes necesarios. Manejo de un caso. Hereditary haemorrhagic telangiectasia. Hereditary haemorrhagic telangiectasia HHT is a dominantly inherited disease characterized by telangiectatic lesions. The disease manifestations are variable and include epistaxis, gastrointestinal bleeding, pulmonary arteriovenous malformations and cerebral arteriovenous malformations.

Dysphonia and vocal fold telangiectasia in hereditary hemorrhagic telangiectasia. This case report is the first documentation of dysphonia and vocal fold telangiectasia as a complication of hereditary hemorrhagic telangiectasia HHT. Case report of a year-old man with HHT presenting with 2 years of worsening hoarseness. Hoarseness corresponded with a period of anticoagulation. Endoscopy revealed vocal fold scarring, vocal fold telangiectasias , and plica ventricular is suggestive of previous submucosal vocal fold hemorrhage and subsequent counterproductive compensation with ventricular phonation.

Hereditary hemorrhagic telangiectasia may present as dysphonia with vocal fold telangiectasias and place patients at risk of vocal fold hemorrhage. Ataxia telangiectasia : a review. Full Text Available Abstract Definition of the disease Ataxia telangiectasia A-T is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia , immunodeficiency, cancer susceptibility and radiation sensitivity.

A-T is often referred to as a genome instability or DNA damage response syndrome. Epidemiology The world-wide prevalence of A-T is estimated to be between 1 in 40, and 1 in , live births. Clinical description A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages. Neurological symptoms most often first appear in early childhood when children begin to sit or walk. They have immunological abnormalities including immunoglobulin and antibody deficiencies and lymphopenia.

People with A-T have an increased predisposition for cancers, particularly of lymphoid origin. Pulmonary disease and problems with feeding, swallowing and nutrition are common, and there also may be dermatological and endocrine manifestations. The primary role of the ATM protein is coordination of cellular signaling pathways in response to DNA double strand breaks, oxidative stress and other genotoxic stress.

Diagnosis The diagnosis of A-T is usually suspected by the combination of neurologic clinical features ataxia, abnormal control of eye movement, and postural instability with one or more of the following which may vary in their appearance: telangiectasia , frequent sinopulmonary infections and specific laboratory abnormalities e.

IgA deficiency, lymphopenia especially affecting T lymphocytes and increased alpha-fetoprotein levels. Because certain neurological features may arise later, a diagnosis of A-T should be carefully considered for any ataxic child with an otherwise elusive diagnosis. A diagnosis of A-T can be confirmed by the. Hashimoto thyroiditis associated with ataxia telangiectasia. Ataxia telangiectasia is a rare genetic disease characterized by neurological manifestations, infections, and cancers.

In addition to these cardinal features, different autoimmune diseases can be seen in patients with ataxia telangiectasia. Although there were reports of positive autoimmune thyroid antibodies associated with ataxia telangiectasia , to our knowledge, we report the first cases of nodular Hashimoto thyroiditis in two patients with ataxia telangiectasia in the English medical literature.

These cases illustrate that despite the rarity of nodular Hashimoto thyroiditis associated with ataxia telangiectasia , physicians should be aware of this possibility.

Furthermore, thyroid examination of patient with ataxia telangiectasia is recommended for early diagnosis. Clinical features of Hereditary Haemorrhagic Telangiectasia.

Hereditary Haemorrhagic Telangiectasia HHT , also known as Rendu-Osler-Weber disease ROW , is an autosomal dominant disease with multi-systemic vascular dysplasia characterized by mucocutaneous telangiectasia , arteriovenous malformations and recurrent spontaneous epistaxis nosebleeds. Most cases. Vertical transmission of macular telangiectasia type 2. The purpose of this study was to report vertical transmission of macular telangiectasia type 2 and type 2 diabetes mellitus in 3 families.

In this retrospective interventional case series, the charts of patients with inherited macular telangiectasia type 2 were reviewed. A large spectrum of presentations of macular telangiectasia type 2 was observed and has been studied with different techniques including best-corrected visual acuity, microperimetry, confocal blue reflectance fundus autofluorescence, fluorescein angiography, and time domain and spectral domain optical coherence tomography.

Vertical transmission of macular telangiectasia type 2 and associated type 2 diabetes mellitus is described in 3 families. Symptomatic as well as asymptomatic eyes with macular telangiectasia type 2 were identified. In 2 families, a mother and son experienced visual loss and were diagnosed with macular telangiectasia type 2.

All 4 patients had type 2 diabetes. Diabetic retinopathy was observed in one mother and her son. In the third family, the index patient was diagnosed macular telangiectasia type 2 after complaints of metamorphopsia.

She and her family members had type 2 diabetes mellitus, and further screening of her family revealed familial macular telangiectasia type 2. None of the patients were treated for macular telangiectasia type 2. Macular telangiectasia type 2 may be more common than previously assumed, as vision can remain preserved and patients may go undiagnosed. Screening of family members is indicated, and detection of mild anomalies is possible using fundus autofluorescence and spectral domain optical coherence tomography.

Radiosensitivity in ataxia- telangiectasia. Full text: Radiosensitivity is a major hallmark of the human genetic disorder ataxia- telangiectasia. This hypersensitivity to ionizing radiation has been demonstrated in vitro after exposure of patients to therapeutic thought to be the major factor contculture. Furthermore, since patients with this syndrome are also predisposed to developing a number of leukaemias and lymphomas the possible connection between radiosensitivity and cancer predisposition is of interest.

Now that the gene ATM responsible for this genetic disease has been cloned and identified, progress is being made in determining the role of the ATM protein in mediating the effects of cellular exposure to ionizing radiation and other forms of redox stress. Proteins such as the product of the tumour suppressor gene p53 and the proto-oncogene c-Abl a protein tyrosine kinase have been shown to interact with ATM. Since several intermediate steps in both the p53 and c-Abl pathways, activated by ionizing radiation, are known it will be possible to map the position of ATM in these pathways and describe its mechanism of action.

What are the clinical implications of understanding the molecular basis of the defect in ataxia- telangiectasia? As outlined above since radiosensitivity is a universal characteristic of A-T understanding the mechanism of action of ATM will provide additional information or radiation signalling in human cells.

With this information it may be possible to sensitize tumour cells to radiation and thus increase the therapeutic benefit of radiotherapy. This might involve the use of small molecules that would interfere with the normal ATM controlled pathways and thus sensitize cells to radiation or alternatively it might involve the efficient introduction of ATM anti-sense c.

Lavin, M. Queensland Institute of Medical Research. Imaging of Hereditary Hemorrhagic Telangiectasia. This pictorial review is based on our experience of the follow-up of patients at our multidisciplinary center for hereditary hemorrhagic telangiectasia HHT. Rendu-Osler-Weber disease or HHT is a multiorgan autosomal dominant disorder with high penetrance, characterized by epistaxis, mucocutaneous telangiectasis, and visceral arteriovenous malformations AVMs.

The research on gene mutations is fundamental and family screening by clinical examination, chest X-ray, research of pulmonary shunting, and abdominal color Doppler sonography is absolutely necessary.

The angioarchitecture of pulmonary AVMs can be studied by unenhanced multidetector computed tomography; however, all other explorations of liver, digestive bowels, or brain require administration of contrast media. Magnetic resonance angiography is helpful for central nervous system screening, in particular for the spinal cord, but also for pulmonary, hepatic, and pelvic AVMs.

Knowledge of the multiorgan involvement of HHT, mechanism of complications, and radiologic findings is fundamental for the correct management of these patients. Splenic Involvement in Hereditary Hemorrhagic Telangiectasia. Full Text Available A year-old man who presented with prolonged epigastric pain was referred to our hospital. He had experienced recurrent epistaxis and had a family history of hereditary hemorrhagic telangiectasia.

Computed tomography also showed a pulmonary arteriovenous malformation and heterogeneous enhancement of the liver parenchyma, suggesting the presence of arteriosystemic shunts and telangiectases.

He underwent splenectomy, and his symptoms disappeared after surgery. Pathological examination of the resected specimen revealed that the hypervascular lesion of the spleen was not a tumor but was composed of abnormal vessels associated with hereditary hemorrhagic telangiectasia.

Symptomatic splenic involvement may be a rare manifestation of hereditary hemorrhagic telangiectasia but can be revealed by imaging modalities. We report the review of 13 patients who were diagnosed of ataxia telangiectasia before 6 years of age. All of them manifested cerebelous ataxia, oculocutaneus telangiectasias 11 , sinopulmonary infections 9 , dystonia 9 , oculomotor apraxia 9 and Burkitt linfoma 1. We analyse the most common presentation of the disease in early stages and the complementary studies performed.

The prompt diagnosis allow us a better control of infections, malignant process and finally the possibility of genetic counseling. Ataxia- telangiectasia : future prospects. This includes the coordination of cell-cycle checkpoints, transcription, translation, DNA repair, metabolism, and cell fate decisions, such as apoptosis or senescence. DSBs can be generated by exposure to ionizing radiation IR or various chemical compounds, such as topoisomerase inhibitors, or can be part of programmed generation and repair of DSBs via cellular enzymes needed for the generation of the antibody repertoire as well as the maturation of germ cells.

AT patients have immunodeficiency, and are sterile with gonadal dysgenesis as a result of defect in meiotic recombination. In the cells of nervous system ATM has additional role in vesicle dynamics as well as in the maintenance of the epigenetic code of histone modifications. Moderate levels of ATM are associated with prolonged lifespan through resistance to oxidative stress.

ATM inhibitors are being viewed as potential radiosensitizers as part of cancer radiotherapy. Though there is no cure for the disease at present, glucocorticoids have been shown to induce alternate splicing site in the gene for ATM partly restoring its activity, but their most effective timing in the disease natural history is not yet known.

Gene therapy is promising but large size of the gene makes it technically difficult. Full Text Available Ataxia- telangiectasia A-T is a rare neurodegenerative, inherited disease causing severe morbidity. Oculocutaneous telangiectasias are almost constant findings among the affected cases as telangiectasia is considered the main clinical finding for diagnosis.

Vascular abnormalities in organs have been reported infrequently but bladder wall telangiectasias are extremely rare. Since A-T patients are known to be more susceptible to chemical agents, we suggested that possibly cyclophosphamide was the drug which induced bladder wall injury in this patient. En los pacientes con esferocitosis hereditaria , la CHCM Hereditary spherocytosis is a group of heterogenous disorders characterized by variability in its clinical manifestations, membrane protein defects and inheritance.

We analysed the sensitivity and specificity of mean corpuscular hemoglobin concentration MCHC and red cell distribution width RDW in the diagnostic screening of hereditary spherocytosis. Ninetyfour patients were compared to equal number of healthy, age-matched children. In patients with hereditary spherocytosis, MCHC By using a cutoff for the MCHC of


Hereditary Benign Telangiectasia: Punctate Telangiectasia Surrounded by Anemic Halo

Directory of Open Access Journals Sweden. Las sorderas hereditarias : Algunos apuntes necesarios. Manejo de un caso. Hereditary haemorrhagic telangiectasia.


Hereditary hemorrhagic telangiectasia

NCBI Bookshelf. The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene or chromosome locus in which pathogenic variants occur. Inherited genetic forms of ataxia must be distinguished from the many acquired non-genetic causes of ataxia.


Hereditary hemorrhagic telangiectasia HHT , also known as Osler—Weber—Rendu disease and Osler—Weber—Rendu syndrome , is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin , mucous membranes , and often in organs such as the lungs , liver , and brain. It may lead to nosebleeds , acute and chronic digestive tract bleeding , and various problems due to the involvement of other organs. Treatment focuses on reducing bleeding from blood vessel lesions, and sometimes surgery or other targeted interventions to remove arteriovenous malformations in organs. Chronic bleeding often requires iron supplements and sometimes blood transfusions. HHT is transmitted in an autosomal dominant fashion, and occurs in one in 5,—8, people in North America. Telangiectasia small vascular malformations may occur in the skin and mucosal linings of the nose and gastrointestinal tract.

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