Brainstem Cavernous Malformation Mimicking Glioma in Neurofibromatosis Type 1: A Rare Diagnostic Pitfall.
8 affiliations
- 1Faculty of Medicine, Riga Stradins University, 16 Dzirciema Street, LV-1007 Riga, Latvia.
- 2Department of Neurosurgery, Pauls Stradins Clinical University Hospital, 13 Psonu Street, LV-1002 Riga, Latvia.
- 3Department of Radiology, Ege University, 35040 Bornova, Turkey.
- 4Institute of Pathology, Pauls Stradins Clinical University Hospital, 13 Pilsonu Street, LV-1002 Riga, Latvia.
- 5Department of Pathology, Riga Stradins University, 16 Dzirciema Street, LV-1007 Riga, Latvia.
- 6Department of Radiology, Riga Stradins University, 16 Dzirciema Street, LV-1007 Riga, Latvia.
- 7Institute of Diagnostic Radiology, Pauls Stradins Clinical University Hospital, 13 Pilsonu Street, LV-1002 Riga, Latvia.
- 8Faculty of Medicine and Life Sciences, University of Latvia, LV-1004 Riga, Latvia.
Abstract
Background and Objectives: A cerebral cavernous malformation (cavernoma) is a lesion composed of clustered abnormal capillary channels lacking normal brain parenchyma between them. Most cerebral cavernomas are sporadic but up to 20% have familial autosomal dominant inheritance pattern. They are extremely rare, with an annual incidence of approximately 0.15-0.56 per 100,000 population. The treatment ranges from observation for asymptomatic patients to surgical resection. Case Description: A 20-year-old patient with type I neurofibromatosis (NF1) and bilateral optic pathway gliomas since infancy underwent radiotherapy at age seven for an enlarging right medullary lesion, radiologically diagnosed as a glioma. In 2025, he developed intermittent headaches, limited cognitive function, and altered speech. MRI in July 2025 showed enlargement, contrast enhancement, and a cystic component of the right medullary lesion with fourth ventricle compression. Suboccipital craniotomy, performed for presumed medullary glioma, revealed a hemorrhagic vascular lesion; histopathology confirmed a cerebral cavernous malformation and excluded glioma. Because the lesion predated radiotherapy and the availability of susceptibility-sensitive imaging in 2012 is uncertain, its relationship to irradiation cannot be established. The case therefore illustrates a pre-existing or occult cavernous malformation with subsequent radiological evolution. The postoperative course was uneventful, and the patient remains clinically stable. Conclusions: It is possible for cerebral cavernous malformations to mimic gliomas on imaging, particularly in patients with pre-existing CNS lesions such as type I neurofibromatosis. Susceptibility-weighted imaging (SWI) together with post-contrast T1-weighted imaging may aid in distinguishing vascular malformations from primary brainstem tumors.
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BibTeX
@article{laganovskis2026brainstem,
title = {{Brainstem Cavernous Malformation Mimicking Glioma in Neurofibromatosis Type 1: A Rare Diagnostic Pitfall.}},
author = {Arturs Laganovskis and Julija Dolgopolova and Cenk Eraslan and Karina Biserova and Ilze Strumfa and Marta Pūpola and Arturs Balodis},
journal = {Diagnostics (Basel, Switzerland)},
year = {2026},
month = sep,
doi = {10.3390/diagnostics16193090},
url = {https://europepmc.org/article/MED/42882245},
note = {CC BY},
}
RIS
TY - JOUR
TI - Brainstem Cavernous Malformation Mimicking Glioma in Neurofibromatosis Type 1: A Rare Diagnostic Pitfall.
AU - Arturs Laganovskis
AU - Julija Dolgopolova
AU - Cenk Eraslan
AU - Karina Biserova
AU - Ilze Strumfa
AU - Marta Pūpola
AU - Arturs Balodis
PY - 2026
DA - 2026/09/24
JO - Diagnostics (Basel, Switzerland)
DO - 10.3390/diagnostics16193090
UR - https://europepmc.org/article/MED/42882245
AB - Background and Objectives: A cerebral cavernous malformation (cavernoma) is a lesion composed of clustered abnormal capillary channels lacking normal brain parenchyma between them. Most cerebral cavernomas are sporadic but up to 20% have familial autosomal dominant inheritance pattern. They are extremely rare, with an annual incidence of approximately 0.15-0.56 per 100,000 population. The treatment ranges from observation for asymptomatic patients to surgical resection. Case Description: A 20-year-old patient with type I neurofibromatosis (NF1) and bilateral optic pathway gliomas since infancy underwent radiotherapy at age seven for an enlarging right medullary lesion, radiologically diagnosed as a glioma. In 2025, he developed intermittent headaches, limited cognitive function, and altered speech. MRI in July 2025 showed enlargement, contrast enhancement, and a cystic component of the right medullary lesion with fourth ventricle compression. Suboccipital craniotomy, performed for presumed medullary glioma, revealed a hemorrhagic vascular lesion; histopathology confirmed a cerebral cavernous malformation and excluded glioma. Because the lesion predated radiotherapy and the availability of susceptibility-sensitive imaging in 2012 is uncertain, its relationship to irradiation cannot be established. The case therefore illustrates a pre-existing or occult cavernous malformation with subsequent radiological evolution. The postoperative course was uneventful, and the patient remains clinically stable. Conclusions: It is possible for cerebral cavernous malformations to mimic gliomas on imaging, particularly in patients with pre-existing CNS lesions such as type I neurofibromatosis. Susceptibility-weighted imaging (SWI) together with post-contrast T1-weighted imaging may aid in distinguishing vascular malformations from primary brainstem tumors.
SN - 2075-4418
ER -