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Unsupported walking with only half of the brain due to severe porencephaly.
J Family Med Prim Care
December 2024
Neurology Neurophysiology Center, Vienna, Austria.
A patient with a history of Asian flu, mumps meningo-encephalitis, and skull-base fracture and severe porencephaly who was able to walk without assistance, has not been reported. The patient is a 65 year-old male with a history of Asian flu at 6 months of age, Mumps meningoencephalitis at 6 years of age, structural epilepsy since 15 years of age, traumatic brain injury with skull-base fracture at 51 years of age, arterial hypertension, diabetes, hyperlipidemia, previous alcoholism, and polyneuropathy. He presented with only mild right-sided spastic hemiparesis, dysarthria, decreased tendon reflexes in the lower limbs, spastic-ataxic gait, but he was able to walk unassisted.
View Article and Find Full Text PDFCOL4A2-Related Disorder Presenting in Adulthood With Rhabdomyolysis.
Am J Med Genet A
December 2024
Department of Clinical Genomics, Mayo Clinic, Scottsdale, Arizona, USA.
The alpha 1 and 2 chains of type IV collagen, encoded by the COL4A1 (MIM 120130) and COL4A2 (MIM 120090) respectively, play essential roles in the vascular basement membranes. Pathogenic variants in COL4A1/ COL4A2 are associated with autosomal dominant cerebral angiopathies. The clinical manifestations of COL4A1/COL4A2-related disorders include: aneurysms, intracerebral hemorrhage, polymicrogyria, porencephaly, heterotopia, periventricular leukomalacia, epilepsy, and neurodevelopmental disorders.
View Article and Find Full Text PDFPorencephaly and Psychosis: A Rare Case of Neurological and Psychiatric Intersection.
Cureus
September 2024
Department of Psychiatry, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Porencephaly is an uncommon neurological condition characterized by cystic cavities or holes in the cerebral hemispheres of the brain filled with cerebrospinal fluid. There are two types of porencephaly: acquired porencephaly, also known as pseudo-porencephaly, and congenital porencephaly, also known as true porencephaly. Acquired porencephaly, also known as encephaloclastic porencephaly, typically results from late prenatal or perinatal vascular lesions caused by arterial ischemic stroke or venous thrombosis.
View Article and Find Full Text PDFFetal Intraparenchymal Hemorrhage Imaging Patterns, Etiology, and Outcomes: A Single Center Cohort Study.
Ann Neurol
December 2024
Department of Neurology, University of California San Francisco, San Francisco, CA.
Article Synopsis
- - This study looked into how different MRI injury patterns in fetuses with intraparenchymal hemorrhage (IPH) relate to their causes and outcomes, using data from cases diagnosed between 1996 and 2022.
- - Researchers analyzed 44 fetuses, noting that most IPH cases were supratentorial and often linked with conditions like twin-twin transfusion syndrome and certain genetic variants (COL4A1/2).
- - The findings showed a high prevalence of neurological issues in surviving infants, with many developing cerebral palsy, developmental delays, and epilepsy, emphasizing the need for genetic evaluations in unexplained cases of fetal IPH.
Teaching NeuroImage: Porencephaly and Hemorrhage in Infantile -Related Cerebral Microangiopathy.
Neurology
September 2024
From the Department of Radiodiagnosis (R.S., S.P., P.S.), and Child Neurology Division (A.W.), Department of Pediatrics, All India Institute of Medical Sciences, Bathinda, India.
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