ataxia-telangiectasia (at) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition. the atm gene on human chromosome 11q22.3 has recently been identified as the gene responsible for ataxia-telangiectasia (at). the gene mutated in at, which has been designated as the atm gene, encodes a large protein kinase with a pi...

the patient was a 22-year-old female with ataxia-telangiectasia presented with progressive dysphagia to solid food from 2 months ego. she had lost 17 kg in that period. physical findings were cachexia, telangiectasias of sclera, ataxia in limbs movements and epigastric tenderness.there was a tumoral lesion in gastric lesser curvature with extension to esophagogastric junction in endoscopy. path...

Unilateral nevoid telangiectasia syndrome (UNTS) can be classified into two major categories: congenital and acquired. There have been reports showing an increase in skin estrogen and progesterone receptors in patients with this syndrome. We report a male patient with acquired unilateral nevoid telangiectasia syndrome without any associated physiological or pathological conditions.<...

Bloom syndrome is a rare autosomal recessive genetic disorder, which is characterized by telangiectasia and erythema in the butterfly area of the face, dwarfism and photosensitivity. The case presented herein is a 22-year-old man who referred with facial erythema and telangiectasia (Resembling lupus erythematosus). The skin lesions were exacerbating during summer. Other clinical findings were p...

Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.

Hereditary benign telangiectasia is an uncommon idiopathic skin disorder characterized by generalized telangiectases and angiomatous lesions of the skin. The diagnosis should be suspected in patients with such cutaneous lesions, positive family history, no associated bleeding problems, and no mucosal involvement. We present six cases of hereditary benign telangiectasia in three generations of o...

background: ataxia telangiectasia (at) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (aiha), are not generally expected in the course of at, we present a patient with an unusual presentation of these two conditions. case present...

Ataxia Telangiectasia is a rare autosomal recessive disease characterized by progressive neurological dysfunction, immunodeficiency, telangiectasia, chromosomal problems, and sensitivity to radiation, infection, susceptibility cancer. A 5-year-old girl with applied our rehabilitation center due balance coordination problems. Step length, double step width cadence were calculated in the patient ...

Ataxia-telangiectasia, an autosomal recessive disorder caused by defect of the ataxia-telangiectasia mutated gene, is characterized by progressive neurologic impairment with cerebellar atrophy, ocular and cutaneous telangiectasia, immunodeficiency, heightened sensitivity to ionizing radiation and susceptibility to developing lymphoreticular malignancy. Supratentorial brain abnormalities have be...