Diagnosis of hereditary hemorrhagic telangiectasia in a pediatric patient admitted with diabetes: the utility of genetic testing

Autor:	Beatrice Batoczki, Evan Vidal, Craig T. Nakamura, Iris S. Pecson, Alvaro E. Galvis
Rok vydání:	2021
Předmět:	congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty medicine.diagnostic_test business.industry medicine.disease Pediatric patient Diabetes mellitus otorhinolaryngologic diseases medicine medicine.symptom Telangiectasia business Genetic testing
Zdroj:	Journal of Clinical Case Reports and Studies. 2:01-02
ISSN:	2690-8808
DOI:	10.31579/2690-8808/066
Popis:	Background: Hereditary hemorrhagic telangiectasia (HHT) formerly known as Osler-Weber-Rendu syndrome is a rare autosomal dominant disorder characterized by vascular dysplasia and a wide spectrum of clinical manifestations. Case presentation: We report the case of an undiagnosed pediatric patient who presented hypoxemia on clinical exam as the only suggestive feature for the presence of HHT. Conclusions: Although HHT diagnosis is based on the finding of characteristic clinical features genetic testing should also be implemented when a family history of the disease is present to help confirm or refute the diagnosis.
Databáze:	OpenAIRE
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