No abstract available.
Lissencephaly* ; Walker-Warburg Syndrome

PURPOSE: The study was to evaluate the localization of the abnormal gyral and sulcal patterns obtained by means of brain surface rendering imaging. MATERIALS AND METHODS: Nineteen patients with cortical dysplasia who underwent brain surface rendering MR imaging were included in this study. We acquired MP-RAGE sequence and created the 3-D surface rendering MR images by using VoxelPlus(R). Anatomical locations and configurations of abnormal gyri and sulci were reviewed. RESULTS: Abnormal gyral and sulcal patterns were seen 18 in 19 patients. The configuration and orientation of affected gyri and sulci were clearly evaluated in the brain surface rendering images. In a lissencephaly, the a cortex was not delineated and showed markedly thick and smooth gyral pattern. In a schizencephaly, there were wheel shaped broad gyral pattern around the cleft. In a hemimegalencephaly, an affected hemisphere were enlarged and displayed thick and wide gyral pattern. In CBPS, the insular cortex was exposed and the gyri of the lesion were thickened. In focal cortical dysplasia, there were irregular serrated or thick and enlarged gyri. CONCLUSION: Brain surface rendering MR imaging is useful for the evaluation of a detailed gyral pattern and accurate involvement site of abnormal gyri.
Brain ; Humans ; Lissencephaly ; Malformations of Cortical Development ; Orientation

No abstract available.
Infant ; Infant, Newborn ; Lissencephaly* ; Spasms, Infantile*

Neuronal migrational disorders of the brain represent abnormalities in the formation of the neocortex caused by faulty migration of the subependymal neuroblasts. The neuroblasts normally migrate between the sixth and 15th gestational week and in doing so form the six-layered neocortex. When the migration does not occur in a normal fashion the resultant brain anomalies include lissencephaly, pachygyria, schizencephaly, hemimegalencephaly, heterotopia, and polymicrogyria. Neuronal heterotopia is a collection of nerve cells in abnormal locations as a result of arrest of their radial migration, improper formation, or destruction of the radial glial fiber. We reported a case of neuronal heterotopia with brief review of related literatures.
Agenesis of Corpus Callosum ; Brain ; Lissencephaly ; Malformations of Cortical Development ; Neocortex ; Neuronal Migration Disorders ; Neurons*

An autopsy case of agyria in a newborn infant was reported. This neonate had her birth weight of 1.62kg after 40 weeks of gestation. The head circumference was 24cm(less than 3 percentile), and was slightly asymmetric. The brain weighed 60 grams. Fronto-occipital diameter was 7cm. And biparietal diameter was 6.5cm. Two small hemispheres were covered with opague congested leptomeninges, and barely no demonstrable gyrial pattern was recongnized. Interhemispheric fissure, Sylvian fissure and Hippocampal fissures was recognized together with poorly developed olfactory fissure. Cerebral mantle consisted of diffusely thick, 4 layered cortex that is hardly distinguishable rom underlying white matter. Multifocal granule cell heterotopias of cerebellum and neruonal heterotopia in interior Olivary nuclei were seen. Besides, dural anomalies and posterior fossa cyst were observed in this case. Extraneural anomalies consisted of ostium secundum atrial septal defet, low-set ears and high-arched palate.
Autopsy* ; Birth Weight ; Brain ; Cerebellum ; Ear ; Estrogens, Conjugated (USP) ; Head ; Humans ; Infant, Newborn ; Lissencephaly* ; Palate ; Pregnancy

Miller-Dieter syndrome consists of severe type I lissencephaly, abnormal facial appearance, and sometimes other birth defects. Lissencephaly is a brain malformation manifested by a smooth cerebral surface, thickened cortical mantle, and microscopic evidence of incomplete neuronal migration. It comprises the agyria-pachygyria spectrum of malformation, thus excluding polymicrogyria and other cortical dysplasia. Type I lissencephaly results from abnormal migration between about 10 and 14 weeks gestaion. The brain is often small, and the ventricle is enlarged posteriorly The corpus callosum may be small or absent. The structural pattern of the cerebral hemispheres and ventricles is distintly immature, reminiscent of fetal brain. The superficial cellular layer resembles an immature cortex, with some separation into zones similar to layers III, V, and VI of normal cortex, although the cell population is decreased. In 1963 Miller described a malformation syndrome in a brother and sister with postnatal growth deficiency, craniofacial defects, and serious abnormalities of neurologic function. Autopsy at 3 and 4month of age, respectively, revealed lissencephaly. Subsequently, Dieker reported four additional patients with this disorder and referred to it as the 'lissencephaly syndrome'. We have experienced a case with this syndrome. Then we report this rare case with brief review of literature.
Autopsy ; Brain ; Cerebrum ; Congenital Abnormalities ; Corpus Callosum ; Humans ; Lissencephaly ; Malformations of Cortical Development ; Neurons ; Siblings

Cecal volvulus is uncommon in pediatric patients and there are few reports of cecal volvulus with cerebral palsy. Here, we report the case of a 19-year-old male patient who presented with abdominal distension, a history of cerebral palsy, refractory epilepsy due to lissencephaly, and chronic constipation. An abdominal x-ray and computed tomography without contrast enhancement showed fixed dilated bowel intensity in the right lower abdomen. Despite decompression with gastric and rectal tube insertion, symptoms did not improve. The patient underwent an exploratory laparotomy that revealed cecal volvulus. Cecal volvulus usually occurs following intestinal malrotation or previous surgery. In this patient, however, intestinal distension accompanying mental disability and chronic constipation resulted in the development of cecal volvulus. We suggest that cecal and proximal large bowel volvulus should be considered in patients presenting with progressive abdominal distension combined with a history of neuro-developmental delay and constipation.
Abdomen ; Cecum ; Cerebral Palsy ; Constipation ; Decompression ; Epilepsy ; Humans ; Intestinal Volvulus ; Laparotomy ; Lissencephaly ; Male

The unilateral megalencephaly is a rare brain malformation characterized by cerebral asymmetry and cortical dysplasia caused by faulty migration of the subependymal neuroblasts. We experienced a case of unilateral megalencephaly in a two day-old male with the chief complaint of asymmetric head appearance. Large left hemisphere with agyria, pachygyria, dilatation of lateral ventricle, and the thick cortex of the ipsilateral hemisphere were showed in brain MRL, Clinical findings in this case were intractable seizure, hemiparesis, and psychomotor retardation. A review of literatures was also presented briefly.
Brain ; Dilatation ; Head ; Humans ; Lateral Ventricles ; Lissencephaly ; Male ; Malformations of Cortical Development ; Paresis ; Seizures

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

Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, brain (lissencephaly, hydrocephalus, cerebellar malformations) and retinal abnormalities, and is associated with mental retardation and seizures. In 1942, Walker was the first to report a case of WWS. As Fukuyama congenital muscular dystrophy or muscle-eye-brain disorder, it has been demonstrated that the glycosylation defects of alpha-dystroglycan which take a great role in muscle and neuron regeneration are at the root of these disorders. We report a five months old male patient who was presented with seizures as the chief complaint and was diagnosed with WWS, based on clinical criteria, MRI, muscular biopsy, ocular examination, and laboratory findings.
Biopsy ; Brain ; Dystroglycans ; Glycosylation ; Humans ; Hydrocephalus ; Intellectual Disability ; Lissencephaly ; Male ; Muscles ; Muscular Dystrophies ; Neurons ; Regeneration ; Retinaldehyde ; Seizures ; Walker-Warburg Syndrome