Case presentation: A 7-year-old female patient from Bogotá, who presented clinical signs of global neurodevelopmental delay, cerebellar ataxia, frequent respiratory infections and ocular telangiectasias. [scielo.org.co]

The main clinical characteristics include: cerebellar ataxia: progressive and present in all cases oculomucocutaneous telangiectasias greater susceptibility to types of infection (partial combined immunodeficiency 3) and neoplasms Genetics The condition [radiopaedia.org]

• Abnormal Eye Movement

  It is characterized by progressive cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasias and immunodeficiency. [scielo.org.co]

• Chorea

  The characteristic symptoms of this disease usually appear early in childhood and include cerebellar ataxia, oculomotor apraxia, chorea, and cognitive impairment. 2 Moreover, the cells of AT patients present chromosomal instability, hypersensitivity to [scielo.org.co]

  […] uveoparotitis 【ブドウ膜耳下腺性多発性神経炎=葡萄膜耳下腺性多発性神経炎】*uveoparotitic polyneuritis 【ブドウ膜耳下腺熱=葡萄膜耳下腺熱】*uveoparotid 【ブラキシズム】*bruxism (＝歯軋り) (部) 【部位感覚消失】*topoanesthesia 【部分歯牙異形成症】*partial odontodysplasia 【部分性無歯症】*partial anodontia *hypodontia *oligodontia (＝歯数不足症) (舞) 【舞踏病】*chorea [medo.jp]

• Dysmetria

  The neurological examination revealed bradylalia, bradypsychia, ataxic gait with enlargement of the support polygon, presence of oculomotor apraxia, dysmetria and telangiectasias in sclera (Figure 1), so more specific tests were requested. [scielo.org.co]

• Language Delays

  During the interview, psychomotor and language delays were observed, as well as multiple respiratory and gastrointestinal tract infections. [scielo.org.co]

• MRI Shows Cerebellar Atrophy

  Figure 2 Brain MRI showing cerebellar vermian atrophy. A) Sagittal plane / T1 sequence; B) Coronal plane / FLAIR sequence. Table 1 Laboratory tests performed during patient follow-up. Source: Own elaboration. [scielo.org.co]

Early diagnosis is critical to initiate a timely interdisciplinary treatment, improve acute symptoms, and control the multiple comorbidities of the disease. [scielo.org.co]

Treatment and prognosis As there is no cure (currently), treatment is generally around supportive measures. [radiopaedia.org]

Treatments for bladder cancer include surgery, radiation therapy, chemotherapy, and biologic therapy. Biologic therapy boosts your body's own ability to fight cancer. [mendelian.co]

Treatment and prognosis As there is no cure (currently), treatment is generally around supportive measures. [radiopaedia.org]

However, the disease should be confirmed by verifying elevated levels of AFP and, if necessary, a genetic study, all in order to generate an appropriate clinical approach to better guide the management and prognosis of patients. [scielo.org.co]

Etiology Hypertrophy and dysmotility of the esophageal smooth muscles is suggested to have causative role for dysphagia. Genetic counseling In several cases, autosomal dominant inheritance has been suspected. [rarediseases.info.nih.gov]

Gupta A, Hollander D: Duplication of the pylorus found concomitantly with achalasia: congenital or peptic etiology. Dig Dis 22 :829–830, 1977 Google Scholar 8. Rozycki DL, Ruben RJ, Rapins I, Spiro AJ: Autosomal recessive deafness. [link.springer.com]

Epidemiology Less than ten cases have been reported so far. Clinical description Three of the reported patients manifested multiple odontomas. [rarediseases.info.nih.gov]

Finally, it should be noted that since the population mentioned is not representative, no epidemiological data can be generated or generalized about the semiology or clinical benefit of treatment for AT. [scielo.org.co]