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Case Reports
. 2025 Jul 5;17(7):e87340.
doi: 10.7759/cureus.87340. eCollection 2025 Jul.

A Rare Case of Intracranial Hemorrhage Mimicking a Neoplasm in a Child With Hereditary Hemorrhagic Telangiectasia

Cristian Solano  1 , Gleidson Silva  1 , Thomas R VerHage  1 , Tushar Chandra  1 , Manish Bajaj  1
Affiliations
Case Reports

A Rare Case of Intracranial Hemorrhage Mimicking a Neoplasm in a Child With Hereditary Hemorrhagic Telangiectasia

Cristian Solano et al. Cureus. .

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal blood vessel formation, resulting in the development of arteriovenous malformations and telangiectasias throughout the body. We present a rare case of an intracranial hemorrhage mimicking a neoplasm in a medically complex pediatric patient with HHT, a diagnosis that was unbeknownst to both the clinical team and the interpreting radiologist early in the patient's clinical course. This case not only demonstrates the importance of obtaining a thorough medical history but having a clear understanding of the numerous manifestations of HHT, especially as it pertains to the pediatric population. We implore strictly adhere to the guidelines of brain imaging at the time of diagnosis, as well as a multidisciplinary approach to the surveillance and management of these patients in hopes of preventing serious and potentially fatal complications.

Keywords: arteriovenous malformation; hereditary hemorrhagic telangiectasia (hht); neuroradiology; osler-weber-rendu syndrome; pediatric radiology; vascular malformations.

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Conflict of interest statement

Human subjects: Informed consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Initial axial non-contrast head CT.
A heterogeneous hyperdense lesion measuring 3.1 x 2.9 x 3.3 cm was identified (arrow).
Figure 2
Figure 2. MR brain images demonstrate a significant decrease in the size of the lesion when compared to the prior CT.
(a) Axial T2WI demonstrates a dependent T2 hypointense lesion (black arrow). (b) SWI shows blooming artifact consistent with blood products (black arrow). (c) DWI demonstrates no diffusion restriction (white arrow).
Figure 3
Figure 3. Pre- and post-contrast T1W brain images.
Axial T1W pre-contrast (a) and post-contrast (b) and coronal T1W pre-contrast (c) and post-contrast (d) images show an inherently T1 hyperintense focus in the lateral aspect of the lesion (arrows) without post-contrast enhancement.
Figure 4
Figure 4. Coronal MR and MRA images.
Coronal T1W pre-contrast (a) and post-contrast (b) images show a 0.8 x 0.6 cm tangle of vessels at the left high frontoparietal lobe with a subependymal component protruding into the superior aspect of the porencephalic cystic space. Time-resolved magnetic resonance angiography (MRA) MIP images demonstrate early arterial phase filling (c) with subsequent venous drainage (d) into a small cortical vein and then into the superior sagittal sinus, favored to represent a small arteriovenous malformation.
Figure 5
Figure 5. Axial non-contrast CT head nine days after the initial presenting CT head.
The image shows near complete resolution of the dependent hematoma (arrow).
See this image and copyright information in PMC

References

    1. Epidemiology and trends of hereditary hemorrhagic telangiectasia in the United States. Ferry AM, Wright AE, Baillargeon G, Kuo YF, Chaaban MR. Am J Rhinol Allergy. 2020;34:230–237. - PubMed
    1. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) Shovlin CL, Guttmacher AE, Buscarini E, et al. Am J Med Genet. 2000;91:66–67. - PubMed
    1. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Faughnan ME, Palda VA, Garcia-Tsao G, et al. J Med Genet. 2011;48:73–87. - PubMed
    1. Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. Faughnan ME, Mager JJ, Hetts SW, et al. Ann Intern Med. 2020;173:989–1001. - PubMed
    1. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P. Front Genet. 2015;6:1. - PMC - PubMed

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