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Tay Sachs Disease - Tay Sachs Disease symptom, treatment, causes


Telangiectasias are abnormally dilated blood vessels associated with a number of diseases. They may occur in rosacea, in certain systemic diseases ( ataxia-telangiectasia , scleroderma) , or in long-term therapy with topical fluorinated corticosteroids; most cases are idiopathic (of unknown cause). Telangiectasia may also occur as a component of inherited disorders, including ataxia-telangiectasia and hereditary hemorrhagic telangiectasia. They can develop anywhere on the body but commonly on the face around the nose, cheeks, and chin. They can also develop on the legs, specifically on the upper thigh, below the knee joint, and around the ankles. These are actually developmental abnormalities but can closely mimic the behaviour of benign vascular neoplasms. They may be composed of abnormal aggregations of arterioles , capillaries , or venules. Chronic treatment with topical corticosteroids may lead to telangiectasia.

Ataxia-telangiectasia is a rare inherited disorder of childhood that affects the nervous system, immune system, and other body systems. The first signs of ataxia telangiectasia (A-T) usually appear in the second year of life as a lack of balance and slurred speech. The hallmarks of A-T are ataxia (lack of muscle control) and telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks soon after the onset of ataxia. Individuals with A-T are predisposed to leukemia and lymphoma and are extremely sensitive to radiation exposure. Many individuals with A-T have weakened immune systems which makes them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing which causes choking and/or drooling and slowed growth. Children with A-T usually maintain normal or above normal intelligence.

Causes of Telangiectasia

The common Causes of Telangiectasia :

  • Spider angioma .
  • Xeroderma pigmentosa.
  • Facial telangiectasia associated with age, sun exposure, or alcohol use
  • Sturge-Weber disease.
  • Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).
  • Ataxia - telangiectasia.
  • Nevus flammeus such as port-wine stain .
  • Cutis marmorata telangiectatica congenita (an inherited disorder).
  • Klippel-Trenaunay-Weber syndrome.

Symptoms of Telangiectasia

Some common Symptoms of Telangiectasia :

  • Seizures.
  • Coffee-with-milk colored spots of the skin.
  • Decreasing mental development which slows or stops after age 10-12.
  • Dilated blood vessels in the whites of the eyes.
  • Severe recurrent respiratory infections.
  • Movement disorder late in the disease.
  • Delayed walking.

Treatment of Telangiectasia

  • Telangiectasis of the nose or skin can be treated with laser therapy.
  • Brain AVMs are treated in different ways depending on the size, structure and location in the brain of the abnormal blood vessel. Surgery, embolization and stereotactic radiosurgery can all be used, separately or in combination, to successfully treat brain AVMs.
  • Lung and brain AVMs should be treated before they cause symptoms or problems in most cases. This is why testing or screening for them is recommended in all individuals with HHT, regardless of their specific symptoms.
  • Bleeding from the stomach or intestines is generally treated only if it causes anemia (low blood count). Iron replacement therapy is the first line of defense.
  • Lung AVMs can almost always be treated completely and permanently using an outpatient procedure called embolization.

 

Tay Sachs Disease - Tay Sachs Disease symptom, treatment, causes

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