Roberts Syndrome Presenting with Aneurysmal Intraparenchymal Hemorrhage
Elixena López*, Gretel Victoria Pérez Abal and Víctor Manuel Pérez
Blanco
Ramón Estrada Institute of Neurology and Neurosurgery, La Habana, Cuba
*Corresponding Author: KaElixena López, Ramón Estrada Institute of Neurology and
Neurosurgery, La Habana, Cuba.
Received:
January 27, 2026; Published: July 27, 2026
Abstract
Introduction: Roberts syndrome is a rare genetic disorder characterized by intrauterine and postnatal growth retardation, limb and craniofacial abnormalities, intellectual disability, associated with diseases such as heart disease and polycystic kidneys. In the international and national literature, there is little evidence related to the presentation of Roberts syndrome and vascular malformations such as intracranial aneurysms. Intraparenchymal hemorrhage of aneurysmal origin is a rare clinical entity. Presentation in paediatric age is unusual; where intracranial aneurysms represent less than 5% of all cases and only about 5% of intraparenchymal hemorrhages have an underlying aneurysm.
Case Presentation: We present the case of a 17-year-old patient diagnosed with Roberts syndrome and imaging studies showing multiple intracranial aneurysms; whose clinical debut was due to an intraparenchymal hemorrhage.
Objective: To describe the clinical presentation and management of intracranial aneurysms in a paediatric patient with Roberts Syndrome.
Conclusions: The association of Roberts syndrome with intracranial aneurysms is rare; the present case being relevant due to the unusual nature of its clinical presentation and the challenge imposed by its neurosurgical management.
Keywords: Roberts Syndrome; Intracranial Aneurysm; Intraparenchymal Hemorrhage
References
- Goyenechea Gutierrez F. Cap. 19 Intraparenchymal Hemorrhage. Taken from Lesions of the Nervous System Volume I. Havana: Editorial de Ciencias Médicas (2014): 260-2074.
- “Global, regional, and national burden of intracerebral hemorrhage, 190-2021: a systematic analysis from the Global Burden of Disease Study 2021”. Lancet Neurology5 (2024): 487-505.
- Christen MO., et al. “Reported incidence and treatment modalities of giant cerebral aneurysms in the pediatric population: A systematic review and illustrative case report”. Journal of Clinical Neuroscience 90 (2021): 14-20.
- Cancedo WY., et al. “Rupture risk and outcomes of giant aneurysms in pediatric patients: a systematic review and meta-analysis”. Journal of Neurosurgery: Pediatrics2 (2023): 145-155.
- Heredia-Gutiérrez A and Carbarín-Carbarín ME. “Cerebral aneurysms in pediatrics: a case report and review of the literature”. Boletín Médico del Hospital Infantil de México (2020): 636-641.
- Sánchez Segura M., et al. “Roberts syndrome associated with immunodeficiency”. RevCHIH 2 (2025): 185-191.
- Guamán Roldán HX and Díaz Vintimilla MF. “Roberts syndrome: a case report”. Revista Mexicana de Cirugía Bucal y Maxilofacial 11 (2020): 42-46.
- Vega H., et al. “ESCO2 Spectrum Disorder”. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle (2006): 1993-2025.
- OrphaNet: Roberts Syndrome - Rare Disease. Reviewed by Dr. Clémence Vanlerberghe. Rare disease database (2025).
- Gordijn IM., et al. “Roberts syndrome with tetraphocomelia: A case report and review of the literature”. SAGE Open Medical Case Reports 10 (2022): 2050313X221094077.
- Marco R. “Pathogenesis, Diagnosis and Treatment of the Cerebral Aneurysm”. Journal of Neurology and Neurophysiology 8 (2021): 550.
- Martínez-Burbano B., et al. “Does the prevalence of cerebral aneurysms change with geographic altitude? A retrospective study in Ecuador”. Neurology Arg3 (2023): 170-176.
- Heredia-Gutiérrez Antonio Carbarín-Carbarín María E. “Cerebral aneurysms in pediatrics: a case report and review of the literature”. Boletín Médico del Hospital Infantil de México 6 (2021): 636-641.
- Xu Z., et al. “Intracranial Aneurysms: Pathology, Genetics, and Molecular Mechanisms”. Neuromolecular Medicine 4 (2019): 325-343.
- Cervantes Parra L., et al. “Embryonic processes and congenital malformations. Review with case report”. Salud Uninorte1 (2012): 150-161.
- Wang AC., et al. “Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome”. Journal of Neurosurgery: Pediatrics5 (2011): 460-463.
- Chandler KA., et al. “Intracranial aneurysms in SC phocomelia syndrome - a rare but important association”. ResearchGate (2020): 3-4 approx.
- Vargas-Urbina JF., et al. “Embolization of multiple aneurysms in a single session”. Acta Médica Peruana2 (2023).
- Campos Gamarra RN., et al. “Management of cerebral aneurysms: review of past, present and future literature”. Acta Neurológica Colombiana1 (2025): e1216.
Citation
Copyright