The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences.
View Article and Find Full Text PDF: There are few data on hemorrhagic transformation in posterior circulation strokes (PCS) compared to anterior circulation strokes (ACS). The aim of this study was to retrospectively analyze the incidence of hemorrhagic transformation, its different subtypes, the associations with different risk factors, and the outcome of ACS and PCS patients. : A retrospective analysis of consecutive ischemic stroke patients with hemorrhagic transformation was performed.
View Article and Find Full Text PDFPathogenic variants in mitochondrial calcium uptake 1 ( manifest phenotypically heterogeneously but most frequently in the brain and skeletal muscle. Dolichocephaly, arachnodactyly, diplopia, and distal myopathy have not been reported in carriers of a pathogenic variant. The patient is a 23-year-old female with consanguineous parents (first cousins) who was a carrier of the homozygous variant c.
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