Plummer-Vinson syndrome manifests as cervical dysphagia, iron deficiency anemia, an upper esophageal web, and atrophic glossitis. The cause of the esophageal web is thought to be iron deficiency anemia; however, the cause of Plummer-Vinson syndrome has not been established. Crohn's disease is usually accompanied by malnutrition and iron deficiency anemia; however, no case of concomitant Crohn's disease and Plummer-Vinson syndrome with aggravated malnutrition and anemia has been previously reported. Here, we report on a rare case of Plummer-Vinson syndrome in a Crohn's disease patient, which caused malnutrition and constipation.
Adult ; Cobblestone Lissencephaly/diagnosis ; Colon, Sigmoid/surgery ; Crohn Disease/complications/*diagnosis ; Esophageal Sphincter, Upper/radiography ; Humans ; Male ; Plummer-Vinson Syndrome/*diagnosis/etiology ; Sigmoidoscopy ; Sphincterotomy, Endoscopic ; Tomography, X-Ray Computed

Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10 months of age have been reported. Here, we describe an 8-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. He had no major health problems over the course of 8 years of follow-up, except for mild mental/motor retardation, ichthyosis, facial dysmorphic features and limb anomalies. Based on these features, we suggest that because Neu-Laxova syndrome represents a heterogeneous phenotype, our case may be a milder variant of this syndrome or a new genetic entity.
Abnormalities, Multiple ; Brain Diseases ; Central Nervous System ; Child ; Collodion* ; Edema ; Extremities* ; Fetal Growth Retardation ; Follow-Up Studies ; Humans ; Ichthyosis ; Ichthyosis, Lamellar ; Limb Deformities, Congenital ; Lissencephaly* ; Male ; Membranes ; Microcephaly ; Phenotype ; Skin

A 9-year-old Korean boy with lissencephaly was found dead at home. He had previously been diagnosed with lissencephaly that presented with infantile spasm on the basis of magnetic resonance imaging and electroencephalogram results. Antemortem chromosomal banding revealed a normal karyotype. A legal autopsy was requested to eliminate the possibility of neglect or abuse by his parents. The autopsy findings revealed type I lissencephaly with the associated microcephaly. No external wounds or decubitus ulcers were noted. Postmortem fluorescence in situ hybridization for the LIS1 locus and nucleotide sequence analysis of the whole coding regions of the LIS1 gene did not reveal any deletions. The antemortem and postmortem findings revealed that lissencephaly syndrome was associated with isolated lissencephaly sequence. External causes of death were excluded by the full autopsy and toxicology test results. Because patients with mental retardation are frequently victimized and suffer neglect or abuse, thorough external and internal examinations should be conducted at the time of autopsy.
Autopsy ; Base Sequence ; Cause of Death ; Child ; Child Abuse ; Classical Lissencephalies and Subcortical Band Heterotopias ; Clinical Coding ; Electroencephalography ; Fluorescence ; Forensic Pathology ; Humans ; In Situ Hybridization ; Infant ; Infant, Newborn ; Intellectual Disability ; Karyotype ; Lissencephaly ; Magnetic Resonance Imaging ; Microcephaly ; Parents ; Pressure Ulcer ; Spasms, Infantile ; Toxicology

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 process of cortical expansion in the central nervous system is a key step of mammalian brain development to ensure its physiological function. Radial glial (RG) cells are a glial cell type contributing to this progress as intermediate neural progenitor cells responsible for an increase in the number of cortical neurons. In this review, we discuss the current understanding of RG cells during neurogenesis and provide further information on the mechanisms of neurodevelopmental diseases and stem cell-related brain tumorigenesis. Knowledge of neuronal stem cell and relative diseases will bridge benchmark research through translational studies to clinical therapeutic treatments of these diseases.
Biomarkers, Tumor ; metabolism ; Brain ; growth & development ; physiology ; Brain Neoplasms ; metabolism ; pathology ; therapy ; Glioma ; metabolism ; pathology ; therapy ; Humans ; Intercellular Signaling Peptides and Proteins ; chemistry ; metabolism ; Lissencephaly ; metabolism ; pathology ; Microcephaly ; metabolism ; pathology ; Neoplastic Stem Cells ; cytology ; metabolism ; Neurogenesis ; drug effects ; Neuroglia ; cytology ; metabolism ; Protein Kinase Inhibitors ; chemistry ; pharmacology

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

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

Seckel syndrome is a rare autosomal recessive disorder characterized by low birth weight, short but proportionate stature, microcephaly, moderate to severe mental retardation and typical facial features mimicking bird including receding forehead and chin, a prominent beaked nose and large eyes. A number of CNS anomalies have been reported in literature that are mental retardation, seizures, pachygyria, arachnoid cysts, large basal ganglia, agenesis of corpus callosum, hypoplasia of cerebellar vermis and cerebral aneurysms. Our patient had seizures, microcephaly, mental retardation and CNS anomalies, including diffuse cerebral dysgenesis, pachygyria and partial agenesis of corpus callosum. We report a case of Seckel syndrome with CNS anomalies and a follow up visit at 5 years later
Agenesis of Corpus Callosum ; Animals ; Arachnoid Cysts ; Basal Ganglia ; Beak ; Birds ; Chin ; Eye ; Follow-Up Studies ; Forehead ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Intellectual Disability ; Intracranial Aneurysm ; Lissencephaly ; Malformations of Cortical Development ; Microcephaly ; Nose ; Seizures

PURPOSE: To describe a child with muscle-eye-brain disease as the first case report in Korea. CASE SUMMARY: A 35-month-old girl presented with esotropia and nystagmus since birth. She was born with a birth weight of 3.45 Kg at the gestational age of 39 weeks. She had a history of developmental delay and developmental dislocation of the hip. Her elder sister also had generalized weakness and mental retardation. The patient's creatinine kinase and lactate dehydrogenase serum levels were high. Cycloplegic refraction showed a significant myopic astigmatism in both eyes. She showed nystagmus and 20 prism diopters of esotropia in the primary position with the alternative prism cover test. Slit lamp examination revealed a mild posterior subcapsular cataract and lower lid epiblepharon in both eyes. Funduscopic examination showed diffuse retinal degeneration with remnant hyaloids membranes in both eyes. Both optic nerves were dysplastic with abnormal vascular branching pattern. Flash visual evoked potential was normal and standard electroretinography showed decreased amplitude in both eyes. Brain magnetic resonance imaging (MRI) revealed diffuse T2 high signal lesions of the cerebral white matter, diffuse pachygyria of the cerebral cortices, pontine hypoplasia, and multiple small cerebellar cysts. CONCLUSIONS: When a child with developmental delay has ophthalmologic problems including severe myopia, cataract, strabismus and retinal degeneration, the systemic condition should be examined. In this case, in addition to the ophthalmologic findings, blood test and brain MRI were helpful for the diagnosis of muscle-eye-brain disease.
Astigmatism ; Birth Weight ; Brain ; Cataract ; Cerebral Cortex ; Child ; Creatinine ; Dislocations ; Electroretinography ; Esotropia ; Evoked Potentials, Visual ; Eye ; Gestational Age ; Hematologic Tests ; Hip ; Humans ; Intellectual Disability ; Korea ; L-Lactate Dehydrogenase ; Lissencephaly ; Magnetic Resonance Imaging ; Membranes ; Myopia ; Optic Nerve ; Parturition ; Phosphotransferases ; Preschool Child ; Retinal Degeneration ; Siblings ; Strabismus ; Walker-Warburg Syndrome