E-ISSN: 1019-5157
ISSN: 2651-5024
Case Report
Fatal Sphenoid Wing EBV-Associated Smooth Muscle Tumor in a Child With ARTEMIS (DCLRE1C)–Deficient Omenn Syndrome: A Case Report
Muhammed Yusuf Hamurcu✉ ,
Muhammed Erkan Emrahoğlu ,
erdal reşit yılmaz ,
Şükriye Yılmaz
Department of Neurosurgery, Ankara Etlik City Hospital; School of Medicine, Ankara University; Neurosurgery, sağlık bilimleri üniversitesi dışkapı education and reseache hospıtal; Pediatric Radiology, Ankara Etlik City Hospital
DOI: 10.5137/1019-5149.JTN.52010-26.3
Accepted: 22/09/2026
Article in Press
Corresponding Author:
Muhammed Yusuf Hamurcu (yusufmhamurcu@gmail.com)
Abstract
Aim: Primary intracranial Epstein-Barr virus–associated smooth muscle tumors (EBV-SMTs)
are rare and almost exclusively arise in immunocompromised hosts. We report the first
intracranial EBV-SMT arising at the sphenoid wing in a child with ARTEMIS (DCLRE1C)–
deficient Omenn syndrome and describe its fatal multifocal course despite successful surgical
local control.
Materials and Methods: A 12-year-old boy with ARTEMIS-deficient Omenn syndrome and
chronic EBV viremia presented with progressive right proptosis, headache, and restricted right
lateral gaze. Preoperative immunophenotyping revealed absent recent thymic emigrants (0%)
and naive CD4 T cells (0%). MRI demonstrated an extra-axial enhancing mass at the right ⁺
greater sphenoid wing extending into the orbital apex and middle cranial fossa. Whole-body
imaging revealed multifocal pulmonary, abdominal, and subcutaneous lesions. Right pterional
craniotomy with gross-total resection was performed. A comparative analysis of published
intracranial and skull-base EBV-SMT cases in the setting of inborn errors of immunity (IEI) was
undertaken.
Results: Histopathology confirmed EBV-associated leiomyoma: EBER in situ hybridization
(ISH) was strongly positive; smooth muscle actin and h-caldesmon were diffusely positive;
Ki-67 was 3–4%. Proptosis partially improved and lateral gaze restriction resolved by the 3-
month follow-up. Hematopoietic stem cell transplantation (HSCT) could not be completed. The
patient deteriorated and died approximately 4 months postoperatively from progressive systemic
disease; autopsy was declined by the family.
Conclusion: This is the first intracranial EBV-SMT documented in ARTEMIS deficiency and
the first sphenoid wing EBV-SMT in any child with an IEI. Pterional craniotomy achieved
durable local control and meaningful neurological improvement but did not alter the fatal
systemic course, underscoring that surgical resection must be accompanied by immediate,
parallel referral for HSCT evaluation from the moment of pathological diagnosis.
are rare and almost exclusively arise in immunocompromised hosts. We report the first
intracranial EBV-SMT arising at the sphenoid wing in a child with ARTEMIS (DCLRE1C)–
deficient Omenn syndrome and describe its fatal multifocal course despite successful surgical
local control.
Materials and Methods: A 12-year-old boy with ARTEMIS-deficient Omenn syndrome and
chronic EBV viremia presented with progressive right proptosis, headache, and restricted right
lateral gaze. Preoperative immunophenotyping revealed absent recent thymic emigrants (0%)
and naive CD4 T cells (0%). MRI demonstrated an extra-axial enhancing mass at the right ⁺
greater sphenoid wing extending into the orbital apex and middle cranial fossa. Whole-body
imaging revealed multifocal pulmonary, abdominal, and subcutaneous lesions. Right pterional
craniotomy with gross-total resection was performed. A comparative analysis of published
intracranial and skull-base EBV-SMT cases in the setting of inborn errors of immunity (IEI) was
undertaken.
Results: Histopathology confirmed EBV-associated leiomyoma: EBER in situ hybridization
(ISH) was strongly positive; smooth muscle actin and h-caldesmon were diffusely positive;
Ki-67 was 3–4%. Proptosis partially improved and lateral gaze restriction resolved by the 3-
month follow-up. Hematopoietic stem cell transplantation (HSCT) could not be completed. The
patient deteriorated and died approximately 4 months postoperatively from progressive systemic
disease; autopsy was declined by the family.
Conclusion: This is the first intracranial EBV-SMT documented in ARTEMIS deficiency and
the first sphenoid wing EBV-SMT in any child with an IEI. Pterional craniotomy achieved
durable local control and meaningful neurological improvement but did not alter the fatal
systemic course, underscoring that surgical resection must be accompanied by immediate,
parallel referral for HSCT evaluation from the moment of pathological diagnosis.
Keywords
Omenn syndrome
ARTEMIS (DCLRE1C)
EBV-associated smooth muscle tumor
sphenoid wing
pediatric neurosurgery
primary immunodeficiency