Frequency, Severity, Risk Factors, and Outcome of Hemorrhagic Transformation in Anterior and Posterior Stroke.

Background: 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. Methods: A retrospective analysis of consecutive ischemic stroke patients with hemorrhagic transformation was performed. Clinical and demographic data were collected from electronic patient records. Results: Included were 186 ACS patients and 67 PCS patients. The median age was 77 years, with PCS patients being slightly younger than ACS patients. ACS patients were more likely to be treated with acetylsalicylic acid before stroke. ACS and PCS patients had comparable frequencies and severity of hemorrhagic transformation. After excluding ACS patients who received thrombectomy, PCS patients developed hemorrhagic transformation more frequently compared to ACS patients. Risk factors for hemorrhagic transformation did not differ between ACS and PCS patients and included vitamin K antagonist use before stroke and thrombectomy in ACS patients. There was no correlation between hemorrhagic transformation and stroke outcome. Conclusions: Hemorrhagic transformation occurs with similar frequency in PCS and ACS patients but is more common in PCS patients after the exclusion of ACS patients undergoing thrombectomy.

Dolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T.

Pathogenic variants in mitochondrial calcium uptake 1 (MICU1) 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 MICU1 variant. The patient is a 23-year-old female with consanguineous parents (first cousins) who was a carrier of the homozygous MICU1 variant c.553C>T, phenotypically presenting with developmental delay, intellectual disability, ataxia, dysmorphia (dolichocephaly, arachnodactyly, clinodactyly, hypertelorism, wide nasal bridge), myopathy (ptosis, double vision, strabismus, distal limb weakness, diffuse wasting, hypotonia), hyperextensible joints and hyperkyphosis. Features not previously described were dolichocephaly, arachnodactyly, broad nasal bridge, double vision, and distal myopathy. She was treated with physical therapy, speech therapy, and occupational therapy and received escitalopram and mirtazapine for concomitant depression, anxiety disorder, and insomnia. The presented case shows that the phenotypic heterogeneity of pathogenic MICU1 variants is even greater than previously assumed. Treatment of MICU1-related phenotypes is symptomatic, but these patients benefit from physical therapy, behavioral therapy, speech therapy, and antidepressant treatment.