Chinese Journal of Contemporary Neurology and Neurosurgery, 2016 Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.
Jing-xia HU +5 more
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Grey matter heterotopia in a child with recurrent seizure: A case report [PDF]
Radiology Case ReportsHeterotopia is a common anomaly of cortical development often associated with early-onset and familial epilepsy. Grey matter heterotopias are macroscopically classified into nodular and diffuse types and clinically categorized as subependymal ...
Natasha Dhakal, MBBS, Prajwal Dahal, MD
doaj +2 more sources
Paediatric cranial ultrasound: abnormalities of the brain in term neonates and young infants [PDF]
Insights into ImagingCranial ultrasound is a critical screening tool in the detection of cerebral abnormalities in term neonates and infants, and is complementary to other imaging modalities.
Caoilfhionn Ní Leidhin +5 more
doaj +2 more sources
Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report [PDF]
BMC PediatricsBackground Zellweger spectrum disorders (ZSDs) are a group of peroxisome biogenesis disorders (PBDs) with different variants in the PEX genes. The main biochemical marker for screening peroxisomal disorders is very long-chain fatty acids (VLCFAs).
Bita Barazandeh Shirvan +6 more
doaj +2 more sources
Neonatal Microcephaly and Central Nervous System Abnormalities During the Zika Outbreak in Rio de Janeiro [PDF]
VirusesThis retrospective cohort study analyzed 7870 pregnant women, including 2269 with confirmed Zika virus (ZIKV) infection and 5601 without Zika infection, along with their fetuses and newborns.
Marlos Melo Martins +4 more
doaj +2 more sources
Gastrointestinal malrotation and chronic intestinal pseudo-obstruction in two pediatric patients with Baraitser-Winter cerebrofrontofacial syndrome. [PDF]
JPGN RepAbstract Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare congenital anomaly syndrome that can present with characteristics in multiple organ systems. These can include pachygyria, intellectual disability, seizures, congenital heart defects, renal malformations and gastrointestinal dysfunction.
Lee V +4 more
europepmc +2 more sources
Malformations of cortical development: Embryology and epilepsy. [PDF]
EpilepsiaAbstract One in seven patients with focal epilepsy has a malformation of cortical development (MCD) as underlying cause. Understanding normal cortical development combined with knowledge of where, when, and what goes wrong in different types of MCD provides insight into the mechanisms of epileptogenesis.
Hoeberigs MC +2 more
europepmc +2 more sources
Pachygyria in a neonate with trisomy 21 [PDF]
Annals of Saudi Medicine, 2007 Manzar Shabih
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Malformations of the cerebral cortex and epilepsy. Clinical lecture
Русский журнал детской неврологии, 2022 Malformations of the cerebral cortex are often the causes of epilepsy. The latest changes in their classification are summarized. The description of lissencephaly and Miller–Dicker syndrome, pachygyria, polymicrogyria, hemimegaloencephaly ...
A. S. Kotov, K. V. Firsov
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Lissencephaly: Clinical and neuroimaging features in children
Revista Mexicana de Neurociencia, 2021 Background: The spectrum of lissencephaly (LIS) corresponds to a group of serious brain malformations in the cortex caused by a failure in neuronal migration. The spectrum includes agyria, pachygyria and subcortical band heterotopia (SBH).
Nathaly S. Lapo-Córdova +2 more
doaj +1 more source