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

**Authors:** Cristian Solano, Gleidson Silva, Thomas R VerHage, Tushar Chandra, Manish Bajaj

PMC · DOI: 10.7759/cureus.87340 · Cureus · 2025-07-05

## TL;DR

A child with a rare blood vessel disorder had a brain bleed mistaken for a tumor, highlighting the need for careful diagnosis and management in such cases.

## Contribution

This case highlights the rare presentation of intracranial hemorrhage mimicking a tumor in pediatric HHT patients.

## Key findings

- Intracranial hemorrhage was initially misdiagnosed as a neoplasm in a child with HHT.
- The case underscores the importance of thorough history and imaging in HHT patients.
- A multidisciplinary approach is recommended to prevent fatal complications in HHT.

## 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.

## Linked entities

- **Diseases:** Hereditary hemorrhagic telangiectasia (MONDO:0019180)

## Full-text entities

- **Genes:** ACVRL1 (activin A receptor like type 1) [NCBI Gene 94] {aka ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2}, SMAD4 (SMAD family member 4) [NCBI Gene 4089] {aka DPC4, JIP, MADH4, MYHRS}, ENG (endoglin) [NCBI Gene 2022] {aka END, HHT1, ORW1}, TGFB1 (transforming growth factor beta 1) [NCBI Gene 7040] {aka CAEND1, CED, DPD1, IBDIMDE, LAP, TGF-beta1}
- **Diseases:** AVM (MESH:D002538), choroid plexus papilloma (MESH:D020288), intracranial bleeding (MESH:D013345), Neoplasm (MESH:D009369), intracranial lesions (MESH:D020765), communicating hydrocephalus (MESH:D006849), telangiectases of the GI tract (MESH:D013684), gastrointestinal, pulmonary, and cerebral hemorrhage (MESH:D006471), neurological deficits (MESH:D009461), intracranial venous malformation (MESH:D020787), intracranial (MESH:D001932), emesis (MESH:D014839), congestion (MESH:D002311), intrauterine stroke (MESH:D020521), choroid plexus neoplasm (MESH:D016545), cough (MESH:D003371), seizure (MESH:D012640), porencephalic cyst (MESH:D003560), venous ectasia (MESH:D004108), cerebral vascular malformations (MESH:D054079), autosomal dominant disorder (MESH:D030342), intracranial abnormality (MESH:D001927), visceral lesions (MESH:D007418), venous malformation (MESH:C563977), spastic hemiparesis (MESH:D010291), HHT (MESH:D013683), feeding artery aneurysms (MESH:D001068), Intracranial Hemorrhage (MESH:D020300), hemorrhage (MESH:D006470), brain vascular malformations (MESH:D020785), brain venous malformations (MESH:D020520), meningeal irritation (MESH:D008580), epilepsy (MESH:D004827), headache (MESH:D006261), epistaxis (MESH:D004844), papilloma (MESH:D010212), hematoma (MESH:D006406), AVMs (MESH:D001165)
- **Chemicals:** H2O (MESH:D014867), ketorolac (MESH:D020910), dexamethasone (MESH:D003907), acetaminophen (MESH:D000082)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

12 references — full list in the complete paper: https://tomesphere.com/paper/PMC12321042/full.md

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Source: https://tomesphere.com/paper/PMC12321042