Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51272
Abstract: We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in… read more here.
Keywords: epileptic encephalopathy; encephalopathy due; responsive epileptic; two siblings ... See more keywords
Progressive encephalopathy due to chronic exposure to lead
Sign Up to like & getrecommendations! Published in 2022 at "Arquivos de Neuro-Psiquiatria"
DOI: 10.1055/s-0042-1758393
Abstract: A 70-year-old man reported a 2-year history of progressive gait imbalance and cognitive decline (memory, executive functions, and language impairment). A physical examina-tion revealed spastic ataxia without peripheral involvement. The patient worked with car battery… read more here.
Keywords: encephalopathy due; due chronic; exposure lead; chronic exposure ... See more keywords
Hypercalcaemic encephalopathy due to metastatic parathyroid carcinoma
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DOI: 10.1136/bcr-2017-219664
Abstract: A 49-year-old man presented in the emergency department with altered sensorium and renal failure and was placed on a ventilator. Evaluation with MRI of the brain showed enhancing lesion in the occipital lobe. Biochemical tests… read more here.
Keywords: parathyroid carcinoma; encephalopathy due; parathyroid; metastatic parathyroid ... See more keywords