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Abnormalities in brain magnetic resonance imaging associated with vigabatrin therapy in an infant with infantile epileptic spasms syndrome.
Clin Toxicol (Phila)
December 2024
Department of Neuroradiology, Unidade Local de Saúde de Santa Maria, Lisboa, Portugal.
Introduction: Vigabatrin, an anticonvulsant drug used for refractory epilepsy and as first-line treatment for infantile epileptic spasms syndrome, can rarely cause brain abnormalities detectable on magnetic resonance imaging. These complications, potentially related to dose, young age, and concomitant high doses of adrenocorticotropic hormone and/or prednisolone, can lead to neurological symptoms. Upon withdrawal or dose reduction, symptoms and imaging changes tend to resolve.
View Article and Find Full Text PDFNovel PNPLA8 variants associated with primary ovarian insufficiency, tremors, cerebellar ataxia and limb weakness: a case report and literature review.
J Neurol
December 2024
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Background: PNPLA8 is a gene that causes an autosomal recessive mitochondrial disease characterised by microcephaly and intractable epilepsy in infants and cerebellar ataxia and limb weakness in adults. Herein, we report the clinical, muscle pathology, and brain imaging features of an adult patient with new variants of PNPLA8.
Methods: A 27-year-old Chinese woman presented with abnormal gait at age 11, remained amenorrhoeic with an infantile uterus at age 17, and presented with head and limb tremors at age 21.
Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature.
Can J Neurol Sci
December 2024
Krembil Brain Institute, Toronto, Ontario, Canada.
Background: There is limited information on rare spinocerebellar ataxia (SCA) variants, particularly in the Canadian population. This study aimed to describe the demographic and clinical features of uncommon SCA subtypes in Canada and compare them with international data.
Methods: We conducted a case series and literature review of adult patients with rare SCA subtypes, including SCA5, SCA7, SCA12, SCA14, SCA15, SCA28, SCA34, SCA35 and SCA36.
Teaching Video NeuroImage: Reversible Cerebral Atrophy and Substantia Nigra Changes After Vitamin B12 Treatment in Infantile Tremor Syndrome.
Neurology
December 2024
From the Department of Radiodiagnosis (R.S., S.P.), and Child Neurology Division (A.K.M., A.W.), Department of Pediatrics, AIIMS Bathinda.
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