Juvenile-onset systemic lupus erythematosus is a form of systemic lupus erythematosus, an autoimmune disease that occurs in approximately 10–20% of cases before the age of 16. When the central nervous system is involved, the condition is termed neuropsychiatric lupus. These symptoms typically develop within the first year after diagnosis and are linked to a higher risk of mortality. A 15-year-old male patient with a medical history of systemic lupus erythematosus, antiphospholipid syndrome, and lupus nephritis presented to the emergency department with decreased visual acuity and paralysis of the left sixth cranial nerve. Additionally, elevated blood pressure levels were recorded during his admission. Given the symptoms, a brain MRI without contrast was performed. Punctate and linear focal areas in the right hemipontine and bulbopontine junction, which were hyperintense on T2/FLAIR and hypointense on T1, with no diffusion restriction or post-gadolinium enhancement, suggestive of malacia. Additionally, irregularities in the caliber of the left vertebral, basilar, and right posterior cerebral arteries were observed, characterized by alternating dilated and stenotic areas resembling a pearl necklace, along with wall irregularities indicative of vasculitis. Treatment was initiated, however the response was inadequate. During hospitalization, the patient experienced a sudden neurological deterioration. A non-contrast head CT and CT angiography were performed, revealing Fisher IV subarachnoid hemorrhage and persistent findings in the posterior cerebral arterial circulation. Later, he developed right hemiparesis, a second brain MRI, which identified a cerebral vascular event in the left middle cerebral artery's partial territory in a subacute stage. Additionally, there was a reduction in caliber and intensity of both middle cerebral arteries, suggestive of vasospasm, while the posterior cerebral circulation showed no changes compared to previous studies. Finally, cerebral angiography was conducted, confirming the previously described findings. Vasculitis is a characteristic feature of juvenile-onset systemic lupus erythematosus, the incidence of CNS vasculitis in systemic lupus erythematosus is around 7–10%. MRI is the preferred modality for characterization; however, diagnosis is challenging for radiologists due to the diverse clinical manifestations, which present a broad spectrum of severity and nonspecific imaging findings. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Herrera Ernesto, Rodríguez Garza Claudia, Mendoza Venegas Diego

Keywords: Vasculitis, Neurologic

Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) is a rare mitochondrial disorder primarily affecting children and young adults, typically presenting between the ages of 2 and 40. It is characterized by tRNA mutations that lead to deficiencies in respiratory chain protein complexes, resulting in disrupted intracellular energy production and impaired cellular function. Common clinical manifestations include stroke-like episodes, hemiparesis, seizures, recurrent headaches, and muscle weakness, with progressive cerebral atrophy and cognitive decline occurring over time. Diagnosis often relies on magnetic resonance imaging (MRI), which frequently shows cortical lesions that do not follow vascular territories. This case report details an 11-year-old girl who presented in early 2023 with severe new-onset headaches and blurred vision. After multiple consultations with pediatricians and neurologists, a brain MRI was ordered, revealing chronic stroke-like lesions in various regions, predominantly in the posterior brain, along with calcified basal ganglia and a lactate doublet on spectroscopy. Lactic acidosis was detected, and genetic testing confirmed MELAS syndrome due to a mutation in the MT-TL1 gene (m.3243A>G). Following her diagnosis, she began treatment with Coenzyme Q10, L-Arginine, and L-Carnitine. However, earlier this year, she was hospitalized again due to right-sided hemiparesis. A follow-up MRI showed a new stroke-like lesion in the left precentral gyrus, characterized by cortical diffusion restriction and high signal intensity on the FLAIR sequence, exemplifying the characteristic migrating stroke-like lesions associated with MELAS. In conclusion, this case highlights the critical importance of early recognition and diagnosis of MELAS, a rare mitochondrial disorder characterized by complex neurological manifestations. Key MRI findings, including stroke-like lesions that migrate without adhering to vascular territories, a lactate doublet on MR spectroscopy, and calcified basal ganglia, are vital for diagnosis. Ultimately, confirming the diagnosis through genetic testing is essential for effective management and treatment. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Mendoza Venegas Diego, Herrera Ernesto, Rodríguez Garza Claudia, Elizondo Riojas Guillermo

Keywords: Mitochondrial Disease, Neuroradiology, Brain MRI