Hemiplegia Hemiconvusion Hemiatrophy Syndrome-A Case Report

Neuronal migration disorder is a rare cause of seizure, weakness and developmental delay 1. Individuals with smaller, unilateral clefts may be paralyzed on one side of the body 2. Outcome and presentation of schizencephaly are variable, but it typically presents with seizures ,hemiparesis,and developmental delay. Here we report a case of open lip schizencephaly presenting as Hemiplegia Hemiconvusion Hemiatrophy Syndrome.

Advances in gray matter heterotopia in children / 国际儿科学杂志

Gray matter heterotopias,which can be classified into subependymal heterotopia,subcortical heterotopia,band heterotopia and mixed heterotopia,belongs to neuronal migration disorders.Any factors including physical or chemical factors,biological factors and genetical factors that occur during neuronal migration phase can lead to gray matter heterotopias.The latest studies have revealed many genes are involved in the pathogenesis of gray matter heterotopias,especially in subependymal heterotopia and band heterotopia with their own characteristics.The main clinical disorders in pediatric heterotopias include developmental delay,epilepsy and motor disturbance.The diagnosis of the disease is made through neuroimaging examinations especially magnetic resonance imagings.The advanced magnetic techniques like magnetic resonance spectroscopy and functional magnetic resonance can be helpful in the final diagnosis.

Trastorno de migración neuronal: a propósito de un caso / Neuronal migration disorder: a clinic case

El Trastorno de Migración Neuronal (TMN) se caracteriza por una serie de malformaciones del Sistema Nervioso Central (SNC) que ocurre entre el segundo y quinto mes de gestación; de etiologías variadas. Producen grados diversos de retardo psicomotriz, convulsiones y otras manifestaciones dependiendo de las áreas afectadas. Presentamos el caso de una paciente de 3 meses de edad, sexo femenino, que presentó convulsiones caracterizadas por espasmos en flexión desde el nacimiento, frecuentes y de corta duración, resistentes a tratamiento anticonvulsivante, sin antecedentes infecciosos, obtenida por cesárea sin complicaciones. Se realizó una TAC, un EEG y una RMN, revelando lisencefalia, hemimegalencefalia y esquizoencefalia del hemisferio cerebral derecho e hipoplasia del cuerpo calloso.

The Neuronal Migration Disorder is characterized by a series of malformations of central nervous system that occur between the second and fifth month of gestation; of different etiologies. Have many grades of psychomotor retarded, seizures and others manifestations depending of affect areas. Present a clinic case of a patient of 3 month old, feminine sex, who presents seizures by spasm in flexion since born, frequent and short durations, resistant a anticonvulsant treatment, without infection record, obtained by caesarean without complications. Performed a TAC, a EEG and a RMN, showed a lisencephaly, hemimegalencephaly and schizoencephaly of right cerebral hemisphere and callus body hipoplasia.

A Study of Ulegyria as Pathognomonic Aspects of Congenital Bilateral Perisylvian Syndrome

OBJECTIVE: Congenital bilateral perisylvian syndrome (CBPS) has been defined as a characteristic malformative perisylvian polymicrogyria (PMG) in patients with clinical symptoms of pseudobulbar palsy and epileptic seizures. For the present study, we investigate clinicopathologic features of CBPS associated with timing of lesion formation. METHODS: Clinicopathologic features of CBPS from 6 patients with surgical resection of the cerebral lesions due to medically intractable seizures were studied. RESULTS: Seizure onset ranged from 1 to 10years (average 6.7years) of age, and average duration of seizure was 23years. All had complex partial seizures, and two patients had additional tonic clonic seizures. Magnetic resonance (MR) images showed polymicrogyria, atropic gyri with gliosis. In the histopathologic examination, the cortical lesions revealed features of ulegyria ; atrophic and sclerotic gyri, laminar loss of neurons, extensive lobular gliosis throughout the gray and white matter, neuronoglial nodule formation, and many amyloid bodies. Unlayered or four-layered PMG was not identified. CONCLUSION: Above data suggest that CBPS might be caused by ulegyria resulting from developmental cortical defect during early fetal stage or acquired hypoxic/ischemic injury in prenatal or postnatal life.

Upregulation of Glutamate Receptors in Rat Cerebral Cortex with Neuronal Migration Disorders

Neuronal migration disorders (NMDs) constitute the main pathologic substrate of medically intractable epilepsy in human. This study is designed to investigate the changes in expression of glutamate receptor subtypes on radiation-induced NMD in rats. The lesion was produced by intrauterine irradiation (240 cGy) on E17 rats, and then 10 weeks old rats were used for the study. The pathologic and immunohistochemical findings for glutamate receptor subunit proteins on NMD cortex were correlated with development of behavioral seizures and EEG abnormality. Spontaneous seizures uncommonly occurred in NMD rats (5%); however, clinical stages of seizures were significantly increased in NMD rats by an administration of kainic acid. Brains taken from irradiated rats revealed gross and histopathologic features of NMD. Focal cortical dysplasia was identified by histopathology and immunohistochemistry with neurofilament protein (NF-M/H). Significantly strong NR1 and NR2A/B immunoreactivities were demonstrated in cytomegalic and heterotopic neurons of NMD rats. The results of the present study indicate that epileptogenesis of NMD might be caused by upregulation of glutamate receptor expression in dysplastic neurons of the rat cerebral cortex with NMDs.

The Clinical Manifestations and Results of Medical and Surgical Treatment of Epileptic Children with Neuronal Migration Disorders / 대한소아신경학회지

PURPOSE: The objective of this study is to investige the clinical features, natural histories, and results of medical and surgical treatment of NMD in patients who were diagnosed during childhood. METHODS: We performed a retrospective analysis of medical records of 57 patients with NMD who were newly diagnosed by MRI or pathologically in epilepsy children since March 1993 to June 2000. RESULTS: These 57 patients with NMD consisted of 26 with cortical dysplasia, 9 with lissencephaly, 7 with polymicrogyria, 6 with schizencephaly, 4 with hemimegalencephaly, 3 with heterotopias, and 2 with double cortex. Clinically, 94.7% of these patients showed seizures, 33.3% with developmental delay, 21.1% mental retardation, 15.8% cerebral palsy, and 7.0% attention deficit hyperactivity disorder. Their response to antiepileptic drugs was good to 31 patients (75.6%), moderate to 3 (7.3%), and poor to 7 (17.1%). Twelve patients were completely seizure-free after receiving medication for at least 15 months. Seventeen patients tolerated with monotherapy with antiepileptic drugs. Fourteen patients underwent surgical resection. The results of operation were highly correlated with the complete removal of epileptic focus. Six patients who underwent complete resection were seizure-free after operation. On the other hand, Eight patients who had incomplete resection of the epileptic focus showed poor outcome. CONCLUSION: Most of previous reports suggested that NMD is associated with refractory to medical treatments, and early surgical operation has been recommended. Our study demonstrates remarkably good responses of NMD patients with medical treatment only.

Neuronal migration disorders: MRI, SPECT and PET findings

BACKGROUND: With the aid of high-resolution MRI, the identification of neuronal migration disorder(NMDs) is increasing and NMDs are considered as one of the major causes of extrahippocampal epilepsy. However, MRI has some limitatons in detecting small cortical lesion of NMDs. We have studied the diagnostic value and findings of brain SPECT and PET in the patients with NMDs. METHODS: Nineteen NMD patient with intrac table and partial epilepsy were studied. Diagnosis of NMDs was based on neuroimaging and pathology. Proton, Tl and T2-weighted axial, saggital and coronal MR image were obtained by 1.5 Tesla unit. Interictal and ictal SPFCT and PET imagings were performed with 99mTc-HMPAO and 18F-fluorodeoxyglucose. RESULT: Focal cortical dysplasia (FCD) and schizencephaly were detected in 4 patients, heterotopias in 3(one with 3 isolated lesions and one with bilateral temporal lobe lesions), polymicrogyria in 3, hemi-megalencephaly in 2, pachygyria in 2, forme fruste of tuberculous sclerosis(FFTS) in 1. Heterotopia was also combined with other lesions as schizencephaly, FFS and pachygyria. The MRI detected the lesions in 14 patients(73.7%). Of the 5 patients without definite abnormalities on MRI, 3 had focal polymicrogyda and 2 had FCD on pathologic examination. The interictal SPECT revealed abnormalities in 9 of 12 patients(75.0%), but could not detect 2 FCDs and one heterotopia. The ictal SPECT detected the lesions in all 11 patients. PET showed the compatible abnormalities in 17 patients(89.5%), but there was no abnormal finding in 2(1 with FCD and 1 with heterotopia). The abnormal lesions in PET were more extensive than those in MRI in the 8 patients with focal NMDs. Heterotopia showed cortical gray matter activity on PET in 6 out of 11 lesions. All other NMDs showed hypometabolism or metabolic detect in the interictal SPECT and PET. CONCLUSION: Functional imaging as SPECT & PET may be more selective than MRI to detect focal cortical lesions in NMD. NMDs show, variable metabolic pattern on functional imagings and in general the derangement in the functional imaging is more widespread than the lesions detected by MRI. We recommend the functional neuroimaging in the patients who are suspected to have partial seizure of neocortical origin and have no abnormal findings on brain MRI.

Preliminary Result of Epilepsy Surgery in Patients with Neuronal Migration Disorder

Neuronal migration disorders (NMD's) are a rare group of developmental structural lesions characterized by disorganization of cortical architecture with aberrant columnar and laminar arrangement, often causing intractable seizures. During September 1994 to February 1995, we operated on six patients with NMD to treat intractable seizures, Male female ratio of these 6 patients was 2:4 and mean age at seizure onset was 14 years old(range 6-28 years), indicating early onset of epilepsy. Mean age at seizure surgery was 29 years old(range 23-41 years), and mean follow-up duration after operation was 4 months(range 3-6 months). In their past medical history, three patients had experienced febrile seizure at pediatric age, and one of them had a history of anoxic damage during delivery. Following preoperative localization, the lesion was removed completely in five patients. In the other one patient part of the lesion was located the speech and motor area, leading to partial removal. On histologic examination, two of them showed cortical dysplasia and the other four revealed microdysgenesis. During follow-up for six months, five patients were free of seizure and in the other one patient, whose lesion was removed incompletely, the frequency of seizure decreased by 95%.

Congenital bilateral perisylvian syndrome: analysis of the first four reported Korean patients

The advent of MRI technique has enabled the diagnosis of neuronal migration disorders(NMD) and made it possible to make "in vivo" diagnosis. Congenital bilateral perisylvian syndrome(CBPS) is a recently described disease identify characterized by pseudobulbar palsy, epilepsy, mental retardation, and migration disorders in the bilateral perisylvian area. We have identified four CBPS patients based on neuroimaging and dysarthria patterns among the candidates for epilepsy surgery. All the patients had orofacial diplegia and variable degrees of mental retardation. In the spectrographic analysis of dysarthria, the loss of specific characteristics of formants of vowels and increment of noise in the high frequency formants were observed. Epilepsy was present in all, but only one patient showed intractable seizure requiring surgical intervention. MRI was most helpful in identifying NMD and polymicrogyria in both centroparietal areas in this context. Great alertness is needed to identify this disorder to determine the etiology of epilepsy and dysarthria of uncertain origin.