Hemorrhagic telangiectasia with thrombocytopenia in a newborn infant

Urushihara, Maki; Furukawa, Seikyo; Ota, Akira; Iwai, Asayuki; Matsumura, Kayoko; Hamada, Y.

doi:10.1046/j.1442-200x.2000.01296.x

Cited by 7 publications

(3 citation statements)

References 5 publications

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“…В то время как телеангиэктазии при HГT прогрессируют с возрастом [39], сосудистые поражения при наследственной доброкачественной телеангиэктазии с возрастом исчезают [40]. M. Urushihara et al приводится клиническое наблюдение за младенцем женского пола с множественными крупными поражениями сосудов кожи и множественными телеангиэктазиями на СО ЖКТ и сетчатке правого глаза [41], у которого установлен диагноз детская геморрагическая ангиодисплазия, однако при скрининговых обследованиях других пороков развития внутренних сосудов не выявлено, а семейный анамнез был отрицательным. Всем пациентам показан охранительный режимограничение возможности получения механических травм.…”

Section: диагностикаunclassified

Randu - Osler - Weber disease (or hereditary hemorrhagic teleangectasia) with respiratory involvement

Мизерницкий

Shatokha

2023

Pulʹmonologiâ (Mosk.)

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Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominantly inherited disease characterized by various vascular defects, including nosebleeds, dilation of blood vessels (telangiectasias), and arteriovenous malformations (AVMs) in the lungs and other internal organs. Pulmonary AVMs are observed in 15 - 50% of patients with HHT. The disease manifests in childhood, with the severity of clinical manifestations increasing throughout the patient’s life. The eponymous name of Randu - Osler - Weber disease comes from the surnames of the physicians who first described it in the mid-19th century. Despite some progress in understanding its etiology and pathogenesis, treatment tactics remains incomplete.The aim of this review is to systematize information on the etiology, diagnosis, and treatment of HHT. This review presents the current status of the problem, lists the main diagnostic tests and the principles of pharmacological and surgical treatment.Conclusion. The polyorganic lesions in HHT require an interdisciplinary approach to the management of these patients both in childhood and in adulthood. With the discovery of the genetic basis of the disease, pathogenetic therapy with humanized monoclonal antibodies seems promising. However, this therapy requires further research.

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Section: диагностикаunclassified

Randu - Osler - Weber disease (or hereditary hemorrhagic teleangectasia) with respiratory involvement

Мизерницкий

Shatokha

2023

Pulʹmonologiâ (Mosk.)

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“…4 In a large cohort study of healthy newborn infants over a 9year period, only 64 (1.2%) of 5,180 newborns had UGIB. 10 The 2 previously reported cases of UGIB in newborns due to vascular lesions were associated with other systemic findings. Mucosal lesions of the upper gastrointestinal tract were found in all patients.…”

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confidence: 94%

“…Although some pathologic characteristics suggested that the infant might have HHT, other clinicopathologic findings distinguished the case from HHT. 10 The 2 previously reported cases of UGIB in newborns due to vascular lesions were associated with other systemic findings. 9,10 Our patient was 3 weeks old at presentation, too late for swallowed maternal blood to be the cause of hematemesis.…”

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confidence: 94%

Commentary

Turner

Hamous

Johnson

2006

Clin Pediatr (Phila)

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Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents

Folz

Zoll

Alfke

et al. 2005

Eur Arch Otorhinolaryngol

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The medical literature provides little information on manifestations of hereditary hemorrhagic telangiectasia (HHT) in children. The presented investigation was initiated to analyze early presenting symptoms in HHT, which should help to make the diagnosis at a young age and thus prevent potential complications from occult visceral arteriovenous malformations (AVM), which have commonly been described in HHT. A series of 15 children and adolescents with a suspicious diagnosis of HHT were examined clinically for typical signs and symptoms of the disorder. If the diagnosis of HHT seemed to be likely, recommendations for non-invasive screening procedures were given. Screening was directed at the detection of occult visceral AVMs. Main outcome measures were the definition of principal signs of HHT in children and adolescents. Family history was positive for HHT in 13 persons. The principal sign of recurrent epistaxis was present in 10/15 individuals and the earliest age of onset with regard to epistaxis was 4 years. Cutaneous vascular lesions were present in 5/15 patients. Screening for AVMs was performed in six individuals and revealed vascular lesions of the brain in two patients and vascular lesions of the lung in two patients. Gastrointestinal hemorrhages were present in one infant. Based on these findings, diagnosis of HHT seemed likely in ten individuals and unlikely in five individuals. Signs and symptoms of HHT in children and adolescents may be discrete, but are detectable at an earlier age than previously thought. Clinical examinations in children from HHT families may help identify candidates who will benefit from molecular genetic testing or screening imaging studies.

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Hemorrhagic telangiectasia with thrombocytopenia in a newborn infant

Cited by 7 publications

References 5 publications

Randu - Osler - Weber disease (or hereditary hemorrhagic teleangectasia) with respiratory involvement

Randu - Osler - Weber disease (or hereditary hemorrhagic teleangectasia) with respiratory involvement

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Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents

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