Childhood diagnosis of Osler-Weber-Rendu syndrome

*Correspondence: [e-mail].

Abstract

Case Presentation: An eleven-year-old boy, from Ceará (Brazil), born from non-consanguineous parents. His first symptoms started at eight months old, with multiple episodes of epistaxis and multiple hospitalizations due to respiratory distress. At age seven, he sought medical care due to low hearing and low oxygen saturation. During initial investigation in the emergency room, an echocardiogram was performed compatible with pulmonary fistulas. Family history was positive on the patient’s father side (his father and paternal uncles) for epistaxis since childhood without other complications. On examination, several telangiectasias were seen on his face, back and limbs, as well as a flat hemangioma in the region of the lumbar spine with no changes on neurological examination. An Angiography of the brain was performed which showed a vascular pattern on the surface of the left inferior parietal lobe. After carrying out a genetic investigation with whole exome sequencing it was identified a heterozygous mutation NM_0001183.C1121_1122DELINSgc p(Lys374Ser), leading to the diagnosis of Hereditary hemorrhagic telangiectasia. On follow up imaging, the patient presented a new entanglement of vessels in the upper region of the left caudate nucleus.

Discussion: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. The patients may have telangiectasias and arteriovenous malformations in various organs and can suffer from many complications including bleeding, anemia and high-output heart failure. Families with the same mutation exhibit considerable phenotypic variation, which is probably what happens in our patient’s paternal side of the family.

Final Comments: Our case adds to the medical literature one more case of a rare disease with probable milder phenotypes in the paternal family.

Publication History

Article published online:
12 May 2025