Results 11 to 20 of about 2,258 (187)
Epilepsy & Behavior Reports, 2021 Photic stimulation is a common trigger for generalized epilepsies but may rarely incite focal seizures. Aside from documented cases of photosensitive occipital lobe epilepsies, few reported instances exist of focal epilepsies being triggered by ...
Nicholas J. Bratt, Cliff W. Hampton
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Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations [PDF]
European Journal of Human Genetics, 2012 The purpose of the study is to explore the causative role of TUBB2B gene mutations in patients with different malformations of cortical development. We collected and evaluated clinical and MRI data of a cohort of 128 consecutive patients (61 females and 67 males) in whom brain MRI had detected a spectrum of malformations of cortical development ...
Renzo Guerrini +5 more
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Mirror Imaginary Movement Disorder and Pachygyria Association: Case Report
Türk Nöroloji Dergisi, 2017 Mirror imaginary movement disorders are a group of syndromes characterized by automatic reflex mimicking of voluntary movements on the contralateral side.
Yusuf Ehi +4 more
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A case of pachygyria associated with total hemiatrophy and partial epilepsy.
Nihon Naika Gakkai Zasshi, 1984 身体半側萎縮症と部分てんかんを合併したpachygyriaの1例を報告する.症例は34才,女.小児期より軽い跛行が出現し,左上下肢が右側に比し細く短いのを自覚していた.昭和50年より時々左身体抑制発作が出現.昭和58年2月妊娠中に同発作が頻回となり,突然左姿勢発作が出現し,てんかん重積状態となつたため入院.臨床所見として左身体半側萎縮を認めた.頭部CT,および脳血管撮影において,右Sylvius裂・弁蓋部の形成不全とともに,右prefrontalよりprecentral regionにかけて皮質・脳回の肥厚を認め,頭部dynamic CTにて肥厚部が皮質と同様の時間-吸収値曲線を示すことから他の健常な皮質と同質と推測し,同部位に限局したpachygyriaと診断した.また,身体の萎縮側で皮膚温低下 ...
Midori OMORI +10 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
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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
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A case report on dental management of a toddler with Pachygyria
Journal of Clinical and Experimental Dentistry, 2017 Children with special health care needs receive less oral care than the normal population, inspite of the high level of dental diseases among them. They are at an increased risk for oral diseases throughout their lifetime. This paper reports a case of a toddler with congenital unusual thick convolutions of the cortex resulting in a condition called ...
R Vignesh +4 more
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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
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Pachygyria and polymicrogyria in 22q11 deletion syndrome [PDF]
American Journal of Medical Genetics Part A, 2005 Hiroaki Ehara +2 more
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“Reverse Tigroid” Pattern in Pachygyria: A Novel Finding
Journal of Clinical Imaging Science, 2016 Pachygyria is considered a subtype of lissencephaly which, in turn, is a spectrum of disorders caused by abnormal neuronal migration. Clinical presentation in this disorder may be varied including microcephaly, developmental delay, facial dysmorphism, seizures, and mental retardation.
Ujjawal Roy +3 more
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