Results 31 to 40 of about 4,837 (195)
Severe isolated sulfide oxidase deficiency with a novel mutation
The Turkish Journal of Pediatrics, 2021 Background. Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity.
Meriç Ergene +6 more
doaj +1 more source
Identification of a novel intronic variant in COL4A2 gene associated with fetal severe cerebral encephalomalacia and subdural hemorrhage. [PDF]
BMC Med GenomicsBackground Genetic variants in COL4A2 are less common than those of COL4A1 and their fetal clinical phenotype has not been well described to date. We present a fetus from China with an intronic variant in COL4A2 associated with a prenatal diagnosis of ...
Sun RY +13 more
europepmc +2 more sources
Prenatal Diagnosis of Fetal Encephalomalacia after Maternal Diabetic Ketoacidosis
American Journal of Perinatology Reports, 2014 Introduction Encephalomalacia in a developing fetus is a rare and devastating neurological finding on radiologic imaging. Maternal diabetic ketoacidosis (DKA) can lead to metabolic and vascular derangements which can cause fetal encephalomalacia.
Rozalyn Love +4 more
doaj +1 more source
Pediatric Neurology Briefs, 1995 The prevalence of seizures and epilepsy and the occurrence of other brain malformations or structural abnormalities were examined in 81 children with meningomyelocele followed at the multidisciplinary Children’s Clinics for Rehabilitative Services ...
J Gordon Millichap
doaj +1 more source
Atypical juvenile myoclonic epilepsy with structural brain abnormalities and cognitive impairment: A case report [PDF]
Romanian Journal of Neurology, 2023 Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy affecting 5–10% of epilepsy patients. Its exact cause remains unknown, but recent studies indicate frontal region involvement.
Putri Permata Sari +3 more
doaj +1 more source
Autopsy and Case Reports, 2021 Multicystic encephalomalacia is varying sized cystic lesions in the brain encountered in developing fetuses or infants. These cysts start at the periventricular area and may extend onto the cortex.
Manoj Gopal Madakshira +4 more
doaj
Factor XIII deficiency in a neonate presenting as subpial haemorrhage
South African Journal of Radiology, 2022 Subpial haemorrhage is a rare cause of seizures in term neonates. A 3-day-old male infant, born at term with no history of perinatal hypoxia, presented with seizures and unremarkable physical examination in the interictal state. Imaging demonstrated left
Monish G. Karthikeyan +2 more
doaj +1 more source
Large midline persistent parietal foramina with occipital encephalocele and abnormal venous drainage
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2015 Enlarged persistent parietal foramen is rare congenital skull defect and associated anomalies like underlying encephalomalacia, and venous malformations are known.
Parag Agarwal +3 more
doaj +1 more source
Recurrent and atypical posterior reversible encephalopathy syndrome in a child with hypertension
Annals of Indian Academy of Neurology, 2012 Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiologic entity with typical symptoms including headache, seizures, visual disturbance, altered mental status, vomiting, nausea and focal neurologic signs. In this article, we report
Mustafa Komur +4 more
doaj +1 more source
Pathogens, 2020 The sequential pathology of a genotype XIII Bangladeshi strain of Newcastle disease virus (NDV) was studied in 5-weeks old chickens. Layer chickens of ISA Brown breed were inoculated through the intranasal and intraocular routes with the BD-C161/2010 ...
Congriev Kumar Kabiraj +4 more
doaj +1 more source