Takayasu arteritis presenting with large cerebral infarction in a 39-year-old Syrian woman: a case report.

Introduction and importance: Takayasu Arteritis (TA) is a rare chronic inflammatory disease of unknown etiology that primarily affects large vessels, such as the aorta and its major branches. The disease typically presents with diverse symptoms, depending on the site and degree of arterial lesions. Delayed diagnosis is common, especially in younger populations. Case presentation: A 39-year-old Syrian female presented with an initial stroke. She had no prior medical history and was otherwise healthy. On examination, she had an absent left radial pulse, a carotid bruit, and muscle weakness. Blood tests showed an elevated ESR and CRP. Computed tomography of the brain revealed a right large cerebral infarction. Multislice computed tomography angiography showed diffuse arterial wall thickening, stenosis, and occlusion of several major vessels, including the left internal carotid artery, right internal carotid artery, and left subclavian artery. Clinical discussion: The patient was diagnosed with TA based on the American College of Rheumatology criteria. She was treated with prednisolone, methotrexate, and aspirin, and her symptoms improved significantly. Conclusion: This case highlights the importance of considering TA in the differential diagnosis of ischemic stroke, especially in young patients with atypical presentations. Early identification and management are essential to preclude critical sequelae.

Uncertain significance mutation in the POLR3B gene in a Syrian boy with leukodystrophy: a case report.

4H leukodystrophy, one of the POLR3-related leukodystrophy, is a rare hereditary brain white matter disease with characteristic clinical presentation and imaging findings. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism is mainly presented in patients with 4H leukodystrophy. Case presentation: A 4-year-old boy presented in the neurologic clinic with delayed psychomotor development and progressive neurologic symptoms that started from the age of 20 months. Physical examination revealed ataxic features and a global development delay. The MRI was significant for hypomyelination. The most common causes of leukodystrophy were rolled out. He was referred to an inherited metabolic disease specialist under suspect of inborn metabolic errors because of laboratory analysis, which showed elevated levels of lactic acid, pyruvate, 4-Hydroxy-Phenylactic acid, 3-Hydroxy propionic acid, and decreased levels of PCO2, HCO3, total CO2, 25-Hydroxyvitamin D. These results were unspecific and mitochondrial disease was highly suspected. However, the genetic study was requested to get a defined diagnosis and treatment; the whole exon sequencing result showed a homozygous variant of uncertain significance mutation; related to an amino acid change from Ile to Thr at position 1002 in the POLR3B gene, which helped us to reveal the final diagnosis, and the genetic counseling were recommended for the next pregnancies. Conclusion: POLR3-related Leukodystrophy is a very rare disease. The early diagnosis should be raised depending on clinical history and MRI findings after other conditions were rolled out, and the confirmed diagnosis depends on the genetic study.