Brain ; abnormalities ; Cerebral Cortex ; abnormalities ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Nervous System Malformations ; diagnosis ; Prognosis

OBJECTIVETo analyze the clinical manifestations and magnetic resonance imaging (MRI) features of lissencephaly of various types and provide clinical and imaging evidences for the clinical diagnosis of the disease.

METHODSThe clinical symptoms and signs and the findings in neurobehavioral evaluation, laboratory examination and magnetic resonance imaging (MRI) of 11 cases of lissencephaly were investigated retrospectively.

RESULTSThe 11 patients consisted of 4 with isolated lissencephaly sequence, 3 with Miller-Dieker syndrome, 3 with cobblestone lissencephaly, and 1 with lissencephaly with cerebellar hypoplasia. The main clinical manifestations included mental retardation, developmental delay, microcephaly, epilepsy, hearing abnormality and facial malformation. Cobblestone lissencephaly presented with congenital muscular dystrophy and eye malformation, and lissencephaly with cerebellar hypoplasia showed ataxia manifestations. In terms of MRI features, classical lissencephaly displayed absent or broad cerebral gyri, thickened cortex and reduced white matter, smooth border between the gray and white matter, and thin white matter. Cobblestone lissencephaly displayed thick cortex and gyri deficiency with cobblestone surface. Lissencephaly with cerebellar hypoplasia presented with pachygyria, cerebellar hypoplasia and hippocampal dysplasia.

CONCLUSIONLissencephaly is a developmental malformation of the brain with obvious heterogeneity, and the clinical manifestations and MRI features can be the evidences for a clinical diagnosis and classification of the disease.

Cerebral Cortex ; abnormalities ; pathology ; Female ; Humans ; Infant ; Lissencephaly ; diagnosis ; pathology ; Magnetic Resonance Imaging ; Male ; Retrospective Studies

Abnormalities, Multiple ; pathology ; Cerebral Cortex ; pathology ; Fetus ; Holoprosencephaly ; diagnostic imaging ; pathology ; Humans ; Labor, Induced ; Male ; Prenatal Diagnosis ; Ultrasonography

The CT and MRI manifestations of pachygyria and agyria are presented with a review of the pathological features of the disorders and an evaluation of the diagnostic value of both imaging modalities. 15 cases were analysed retrospectively; of them, 12 were examined with CT and 3 with MRI. The analyses confirm 7 cases with agyria, 5 with pachygyria of bilateral cerebral hemisphere and 3 with limited pachygyria of unilateral hemisphere. On CT and MRI of the whole lesions, the cortex is thickened and the white matter is reduced in proportion. The surface of the brain remains flat and smooth or shows only a few broad gyri and shallow sulci. The border between gray and white matter is smooth. In 12 patients with agyria and pachygyria of the whole brain, the sylvian fissures are shallow, and insulae are exposed. The middle cerebral arteries course superficially along sylvian grooves close to the inner table of the skull. The cerebral contour is "hourglass" or "figure of eight". Associated brain anomalies include the heterotopia of gray matter in 5 cases, the schizencephaly (type I) in 2 cases and the agenesis of the corpus callosum in one case. In conclusion, the pathological changes of pachygyria and agyria are characteristics. CT and MRI are excellent modalities to evaluate these pathological features.
Adolescent ; Adult ; Brain ; abnormalities ; diagnostic imaging ; pathology ; Cerebral Cortex ; abnormalities ; diagnostic imaging ; pathology ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Tomography, X-Ray Computed

OBJECTIVETo investigate the clinicopathologic features of the brain tissue diagnosed as ulegyria from modified anatomic hemispherectomy for refractory epilepsy.

METHODSThe clinical and pathologic findings were reviewed in 39 patients who underwent modified anatomic hemispherectomy and diagnosed as ulegyria in the Epilepsy Center of Tsinghua University Yuquan Hospital from 2007 to 2011.

RESULTSAll patients including 30 males and 9 females had medically intractable seizures, and the mean age of seizure onset and disease duration were 4.0 years and 7.3 years respectively. Significant history included febrile seizure in 14 patients (35.9%), cerebral hemorrhage in 8 patients (20.5%), fetal distress and surgical trauma each in 6 patients (15.4%), vascular malformation and cerebral hemorrhage in 1 patient (2.6%), and unclear history in 4 patients (10.2%). Histologically, all cases were characterized by cortical destruction, with neuronal loss and gliosis. All cases were accompanied by varying degree of cortical dysplasia, which were diagnosed as focal cortical dysplasia IIId. Hippocampus sclerosis was identified in 2 cases. Seizure outcome after surgery revealed 37 patients (94.9%) had an Engel grade I, two patients (5.1%) had an Engel grade II.

CONCLUSIONSFebrile seizure, cerebral hemorrhage, fetal distress and surgical trauma in childhood can lead to refractory epilepsy. Histopathological change in the brain is ulegyria accompanied by focal cortical dysplasia IIId. Modified anatomic hemispherectomy is an effective therapy to treat those patients with extensive changes of one hemisphere.

Adolescent ; Adult ; CD3 Complex ; metabolism ; Cerebral Cortex ; abnormalities ; pathology ; surgery ; Child ; Child, Preschool ; Epilepsy ; metabolism ; pathology ; surgery ; Female ; Follow-Up Studies ; Hemispherectomy ; methods ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Malformations of Cortical Development ; metabolism ; pathology ; surgery ; Retrospective Studies ; Young Adult

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.
Adolescent ; Adult ; Anticonvulsants/therapeutic use ; Cerebral Cortex/*abnormalities ; Dysarthria/*diagnosis/therapy ; Electroencephalography ; Epilepsy, Generalized/congenital/*diagnosis/therapy ; Evoked Potentials, Somatosensory ; Facial Paralysis/congenital/*diagnosis/therapy ; Female ; Follow-Up Studies ; Human ; Magnetic Resonance Imaging ; Male ; Mental Retardation/*diagnosis/therapy ; Surgical Procedures, Operative/methods ; Syndrome