Background: NARS2 encodes mitochondrial Asparaginyl-tRNA Synthetase 2, which catalyzes the aminoacylation of tRNA-Asn in the mitochondria. To date, 24 variants have been reported in NARS2 gene in 35 patients. The phenotypic variability of NARS2-associated disorder is broad, ranging from neurodevelopmental disorders to hearing loss. In this study, we report some novel imaging findings in an Iranian patient suffering from epileptic encephalopathy, caused by a previously reported variant, c.500A > G; p.(His167Arg), in NARS2.
Methods: The spectrum of clinical manifestations of two Iranian patients was investigated and genetic analysis was performed by Whole-exome sequencing (WES). Additionally, we also reviewed the literature and summarized the phenotypes of previously reported patients with variants in the NARS2 gene.
Results: Here, we present the phenotypic and genetic features of 2 unrelated Iranian infants presented with neurodevelopmental delay, seizures, hearing impairment, feeding problems, elevated serum lactate levels in addition to subdural hematoma and cerebral parenchymal hemorrhage in the brain magnetic resonance imaging (MRI) of one of the patients. Genetic analysis revealed a biallelic missense variant in NARS2: c.500A > G; p.(His167Arg). We described the subdural hematoma and cerebral parenchymal hemorrhage of the brain for the first time.
Conclusions: Our study provides new clinical findings, subdural hematoma, and parenchymal hemorrhage, in NARS2-related disorders. Our findings along with previous studies provide more evidence of the clinical presentation of the disease caused by pathogenic variants in NARS2. Expanding the clinical spectrum increases the diagnostic rate of molecular testing and improves the quality of counseling for at-risk couples.
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http://dx.doi.org/10.1002/jcla.24983 | DOI Listing |
J Cerebrovasc Endovasc Neurosurg
January 2025
Department of Neurosurgery, National Institute of Mental Health and Neuroscience (NIMHANS), Bengaluru, India.
Traumatic aneurysms represent less than 1 percent of intracranial aneurysms and middle meningeal artery pseudoaneurysms are even rare. Traumatic aneurysms are usually pseudoaneurysms formed by the rupture of all the layers of the vessel wall. They are associated with high mortality as they can present as epidural, subdural, and rarely intraparenchymal hematoma.
View Article and Find Full Text PDFKorean J Neurotrauma
December 2024
Department of Neurosurgery, Fundación Universitaria de Ciencias de la Salud (FUCS), Hospital de San José - Sociedad de Cirugía de Bogotá, Bogotá, Colombia.
Objective: The goal of a decompressive craniectomy (DC) or a hinge craniotomy (HC), is to treat intracranial hypertension and reduce mortality. Traditionally, the decompression procedure has been performed with cranial bone removal. However, decompression and repositioning the cranial bone, named HC, has been presented as an alternative for certain cases.
View Article and Find Full Text PDFKorean J Neurotrauma
December 2024
Department of Neurosurgery, Deyang People's Hospital, Deyang, China.
Cureus
December 2024
Neurosurgery, St. Marianna University School of Medicine, Kawasaki, JPN.
Over-drainage after a ventriculoperitoneal (VP) shunt can often lead to chronic subdural hematoma; however, the treatment is unclear. Hematoma drainage is performed after physically stopping the shunt function, such as by ligating or removing the shunt system. However, shunt reconstruction is required after the subdural hematoma improves.
View Article and Find Full Text PDFCureus
December 2024
Emergency Medicine Department, Aga Khan University, Karachi, PAK.
Background: Road traffic injuries (RTIs) are currently the ninth most common cause of mortality and are expected to increase in the future. RTIs rank in the top three reasons why young people die. Because of the high incidence and mortality risk, proper trauma care has been prioritized for RTI patients who present to the emergency department.
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