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Background: Lissencephaly is a rare developmental disorder characterized by absence of cerebral convolutions.Pachygyria (broad gyri) or agyria (no gyri) are terms used to describe appearance of cerebral surface. Togetherthese associated conditions are a part of congenital cortical malformations and may result due to arrest ofbrain development before third or fourth month of gestation. Patients suffering from these conditions presentswith significant developmental delays which further depends on the degree of malformation. Results: We reporta case of bilateral symmetrical extensive lissencephaly with pachygyria. The major MRI findings during evaluationof our case were smooth gyral pattern with thickened cortex, thinning of periventricular white matter andprominent VR (Ventricular) spaces.Conclusion: These defects can be idiopathic, associated with chromosomal abnormalities LIS 1 (chromosome 17)or can be to environmental factors (prenatal drugs or intrauterine perfusion failures). In our case Chromosome17 defect was suspected as the parieto-occipital regions were more involved.
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Objective To study the clinical phenotype and prognosis of children diagnosed with early-onset epileptic encephalopathy (EOEE) and pachygyria-lissencephaly,and to explore the potential genetic factors.Methods The clinical data of 65 children between December 2005 and December 2016 was obtained and analyzed.And the whole exome sequencing was analyzed by using second generation sequencing technology.Results Among 65 children,17 cases (26.1％) were diagnosed as lissencephaly,34 cases (52.3 ％) were pachygyria,and 14 cases (62.6％)were pachygyria with lissencephaly.Thirteen cases (20.0％) were infantile spasms,9 cases (13.8％) were ohtahara syndrome,3 cases (4.6％) were early myoclonic epileptic encephalopathy,and 40 cases (61.6％) were non-symptomatic EOEE.Six cases (6/65 cases,9.2％) were associated with dyskinesia,of whom 3 cases showed dystonia,2 cases of limb tremor,1 case of dancing-like movements.Electroencephalophalogram (EEG) showed serious multifocal discharge,40 cases had massive multifocal discharge.Brain images showed that simple pachygyria was more common (34/65 cases,52.3 ％).Among them,focal pachygyria was more common (25/34 cases,73.5 ％),mostly involving in the frontoparietal lobe (11/25 cases,44.0％).Copy number variations and whole exon sequencing were performed on 61 patients.Copy number variation was detected in 1 patient.There were 2 cases of lissencephaly-1/platelet-activating factor acetylhydrolase isoform 1B (LIS1/PAFAH1B1) mutation,1 case of syntaxin-blinding protein 1 (STXBP1)mutation,1 case of Aristaless-related homeobox (ARX) mutation,and 1 case of dynein cytoplasmic 1 heavy chain 1(DYNC1H1) mutation.The follow-up time varied from 1 year to 8 years [(3.5 ± 1.4) years],in which 20 cases had clinical seizures under control but 45 cases out of control.Conclusion Infantile spasms and non-syndromic EOEEare more common in children diagnosed with EOEE and pachygyria-lissencephaly.A small number of cases have dyskinesia.EEG shows serious abnormalities,mostly multifocal discharge.Brain images show simple pachygyria is more common,mostly involving in the frontoparietal lobe.Common gene mutations are LIS1/PAFAH1B1,STXBP1,ARX.Gene mutations can lead to both clinical manifestations of cortical deformity and EOEE,and genetic factors play an important role in children with brain developmental deformity and epilepsy.
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Objective To analyze the clinical manifestations and electroencephalogram (EEG)characteristics of agyria-pachygyria for its early diagnosis,treatment and prognosis judgment in clinical practice.Methods The clinical manifestations and EEG features of twenty-four patients with agyria-pachygyria who were diagnosed by CT or magnetic resonance imaging(MRI) at Pediatric Neurology of Children's Hospital of Chongqing Medical University from July 2004 to July 2013 were retrospectively analyzed.Results Of twenty-four patients,eighteen cases were diagnosed as diffuse agyria-pachygyria and six cases were diagnosed as partial agyria-pachygyria.The clinical features were mainly manifested as mental retardation (twenty-four patients),and motor retardation (twenty-four patients),and epilepsy (eighteen patients).All of the twenty-four patients had abnormal EEG pattern which were mainly three tapes.Type Ⅰ had diffused high amplitude alpha and beta activity in all cortical regions,frontal-central,or parietal-occipital region (fourteen patients).Type Ⅱ showed alternating high amplitude bursts with sharp and slow waves (seven patients).Type Ⅲ was characterized by high amplitude spike or sharp wave activity generalized or multifocal distribution and δ,θ wave mixing graphics (twelve patients).Nine of twenty-four patients showed two or three EEG characteristic patterns in an awake-asleep EEG recording.During the follow-up of 1-8 years old,twelve of the thirteen patients who were diagnosed as epilepsy in diffuse agyria-pachygyria had refractory epilepsy,mainly with infantile spasms or Lennox-Gastaut syndrome.One of the five patients who was diagnosed as epilepsy in focal agyria-pachygyria had refractory epilepsy,mainly for partial epilepsy secondary generalized seizures.There was a significant difference between them (P =0.008).Eighteen of twenty patients who had moderate-severe mental retardation or dyskinesia were diagnosed as diffuse a gyria-pachygyria,while two were focal agyria-pachygyria.Both of them had a significant difference (P =0.005).Conclusions Agyria-pachygyria is a brain malformation caused by neuronal migration abnormality.Diffuse agyria-pachygyria is presented with serious clinical manifestations and poor outcome while the clinical manifestation of focal agyria-pachygyria is relatively mild and epilepsy could be controlled by antiepileptic drugs or epilepsy surgery.These characteristics of EEG patterns along with clinical findings could provide important evidence for early diagnosis,timely treatment and prognosis judgment of agyria-pachygyria.
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Las malformaciones del desarrollo cortical originan un grupo de patologías, que cursan con diversas manifestaciones las cuales marcan un grado de minusvalía significativo en quienes las padecen. La Lisencefalia es una de las alteraciones de la migración neuronal caracterizada por una corteza cerebral de superficie lisa o con pocas circunvoluciones. Este trastorno está frecuentemente asociado a epilepsias de difícil manejo. Se presenta el caso de un paciente masculino de 18 meses de edad con diagnóstico de Lisencefalia quien cursa con convulsiones tónicas generalizadas desde los 8 meses de edad. Se le realizó TAC de cráneo simple y resonancia magnética de cerebro para confirmar el diagnóstico y se dio manejo farmacológico a las convulsiones.
Malformations of cortical development originate a group of pathologies that involve diverse manifestations that mark a significant degree of disability in those who suffer from. The Lissencephaly is one of alterations in neuronal migration characterized by a smooth surface or with few convolutions in the cerebral cortex. This disorder is often associated with difficult management Epilepsies. We report the case of a male patient from 18 months of age with a diagnosis of Lissencephaly, who presents generalized tonic seizures from 8 months of age. Was performed a simple skull CT and brain magnetic resonance to confirm the diagnosis and the pharmacological management was given to seizures.
Subject(s)
Humans , Infant , Cerebral Cortex , Epilepsy , Malformations of Cortical Development , Lissencephaly , Seizures , Skull , Magnetic Resonance Spectroscopy , Diagnosis , Cerebrum , Malformations of Cortical Development, Group IIABSTRACT
Objective To compare the features of cerebral palsy with pachygyria or periventricular leukomalacia (PVL). Methods 15 children with pachygyria and 35 children with PVL were included. Their diagnosed age, clinical subtype, complications, Gross Motor Func-tion Classification System (GMFCS) were compared. Results The diagnosed age was significantly younger (P<0.001), the GMFCS was lower (P<0.05), the incidence rate of epilepsy was higher (P<0.05), and the intelligence was significantly lower (P<0.001) in the pachygyria group than in the PVL group. Conclusion Cerebral palsy children with pachygyria develope worse than that with PVL, as well as their prog-nosis.