Clinical and postmortem findings of a case that had combined alcoholic pellagra encephalopathy and Wernicke disease are described. This 51-year-old malnourished and chronic alcoholic man presented with progressive mental deterioration, pellagra dermatitis, hypertonus of the neck and other musculatures, myoclonic jerks with bizarre involuntary movements, in addition to total external ophthalmoplegia and gait disturbance. After administration of multivitamins, including thiamine and nicotinamide, these neurologic abnormalities were dramatically improved in a few days. However, the patient died thereafter because of sepsis associated with pneumonia. Postmortem examination revealed marked abnormalities in CNS, characterized by diffuse atrophy of gray matter and widespread neuronal degeneration and characteristic central chromatolysis in pontine nuclei, dentate nuclei, cranial nerve nuclei in the brain stem, Betz cells of the cerebral cortex, and Clarke's column and anterior horn cells of the spinal cord. There were also atrophy and gliosis of the mammillary bodies, degeneration and vascular proliferation of periaqueductal gray matter, and massive gliosis around the third ventricle. These neuropathological changes were compatible with symptoms of both alcoholic pellagra encephalopathy and Wernicke's disease, but they were also strongly suspected on clinical grounds.
Alcoholism/*complications ; Central Nervous System Diseases/complications/pathology ; Humans ; Male ; Middle Aged ; Pellagra/*complications/pathology ; Wernicke Encephalopathy/*complications/pathology

It has been well established that the recovery ability of central nervous system (CNS) is very poor in adult mammals. As a result, CNS trauma generally leads to severe and persistent functional deficits. Thus, the investigation in this field becomes a "hot spot". Up to date, accumulating evidence supports the hypothesis that the failure of CNS neurons to regenerate is not due to their intrinsic inability to grow new axons, but due to their growth state and due to lack of a permissive growth environment. Therefore, any successful approaches to facilitate the regeneration of injured CNS axons will likely include multiple steps: keeping neurons alive in a certain growth-state, preventing the formation of a glial scar, overcoming inhibitory molecules present in the myelin debris, and giving direction to the growing axons. This brief review focused on the recent progress in the neuron regeneration of CNS in adult mammals.
Animals ; Axons ; physiology ; Central Nervous System Diseases ; complications ; metabolism ; pathology ; Humans ; Mammals ; physiology ; Nerve Regeneration ; physiology

We report the case of a 52-year-old woman who developed vertical diplopia of 1-days duration. Neuro-ophthalmological testing revealed left trochlear nerve palsy, and sellar MRI revealed a 1.5 cm-sized pituitary mass lesion, a Rathke's cleft cyst. The diplopia disappeared spontaneously after 6 days.
Central Nervous System Cysts/*complications/pathology ; Female ; Human ; Magnetic Resonance Imaging ; Middle Aged ; Trochlear Nerve Diseases/*etiology/pathology

The causes of congenital hydrocephalus vary widely and have an important effect in determining the future counseling of affected cases. We analyzed the postmortem findings of 49 autopsies diagnosed as hydrocephalus to find the causes and related conditions. The cases were collected during the last 10 years (1981-1990). The cases consisted of 25 cases associated with various congenital malformations of the central nervous system (CNS), 14 cases of posthemorrhagic hydrocephalus, 4 cases of postinfection hydrocephalus, and 2 cases of hydranencephaly. Four cases were associated with supracerebellar arachnoid cyst (1) and unknown causes (3). Twenty-five cases associated with congenital malformation of the CNS consisted of 10 cases of holotelencephaly, 5 cases of stenosis of the Sylvian aqueduct, 4 cases of agenesis of the corpus callosum, and 3 cases each of Dandy-Walker malformation and Arnold-Chiari malformation. Various malformations of other organs were associated with these cases. Cardiovascular malformations were common, consisting of 11 cases of patent ductus arteriosus (PDA), 7 cases of atrial septal defect (ASD), and 6 cases of patent foramen ovale (PFO). Among the anomalies of the respiratory system, abnormal lobation was commonly associated, as well as hypoplasia of the lung. Gastrointestinal malformations included Meckel's diverticulum, diaphragmatic hernia, mobile intestine, and midline small liver. Cryptorchidism was the most common malformation in the genitourinary system. Holotelencephaly cases showed multiple craniofacial anomalies, as well as other malformations in the central nervous system. Skeletal malformations included polydactyly, simian crease, and flexion deformity. There were no specific constellations of malformations in these different groups of CNS malformations associated with hydrocephalus.
*Abnormalities, Multiple/pathology ; Autopsy ; Central Nervous System/abnormalities ; Cerebral Hemorrhage/complications ; Female ; Fetal Diseases ; Herpes Simplex/complications ; Humans ; Hydrocephalus/complications/embryology/*etiology/pathology ; Infant, Newborn ; Male

Incontinentia pigmenti (IP) is an uncommon genodermatosis that usually occurs in female infants. It is characterized by ectodermal, mesodermal, neurological, ocular, and dental manifestations. The aim of this study was to clarify clinical symptoms, accompanying diseases, and complications of IP. Forty cases of IP have been reviewed by their medical records, laboratory data, clinical photographs, and telephone survey. Male-to-female ratio was 1 to 19 and their onsets were mostly in utero. They were usually diagnosed during the neonatal period owing to their early expression of skin manifestation. Central nervous system anomalies were found in 46.7%. Ocular disorders and dental defects were detected in 66.7% and 72.7% respectively. The most commonly diagnosed anomalies were hypodontia, retinopathy, and seizure. For better understanding of IP, long term and close cooperation between dermatologists, pediatricians, neuroscientists, genentic counselors, and even dentists is crucial.
Stomatognathic Diseases/complications ; Skin Diseases/complications ; Male ; Magnetic Resonance Imaging/methods ; Korea ; Infant, Newborn ; Infant ; Incontinentia Pigmenti/*diagnosis/pathology ; Humans ; Female ; Eye Diseases/complications ; Eosinophilia/complications ; Child, Preschool ; Child ; Central Nervous System Diseases/complications

Ataxia ; Carbamazepine ; analogs & derivatives ; therapeutic use ; Carcinoma ; Central Nervous System ; pathology ; Diagnosis, Differential ; Female ; Gait ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Nasopharyngeal Neoplasms ; complications ; radiotherapy ; Nervous System Diseases ; complications ; diagnosis ; Radiotherapy ; adverse effects ; Seizures ; complications ; diagnosis ; Siderosis

The adult form of myotonic dystrophy type 1 is a neuromuscular disorder with multisystem involvement, including the central nervous system (CNS). The presenting clinical features of this condition include distal muscle weakness, myotonia, intellectual decline, cataract, frontal baldness and testicular atrophy. Magnetic resonance (MR) imaging shows characteristic white matter changes in the CNS. The clinical presentation, characteristic white matter changes in the brain on MR imaging and electromyographic findings aid in the diagnosis of this disorder.
Adult ; Atrophy ; complications ; Brain ; pathology ; Cataract ; complications ; Central Nervous System ; pathology ; Electromyography ; methods ; Hearing Disorders ; complications ; Humans ; Lactic Acid ; blood ; Magnetic Resonance Imaging ; methods ; Male ; Muscle Weakness ; complications ; Myotonic Dystrophy ; diagnosis ; pathology ; Neuromuscular Diseases ; diagnosis ; pathology

Waldenstrom's macroglobulinemia is an uncommon low-grade B-cell lymphoproliferative disorder in which monoclonal immunoglobulin M is produced. Neurological symptoms due to hyperviscosity are frequent manifestations of Waldenstrom's macroglobulinemia. However, central nervous system infiltration by plasmacytoid lymphocytes (Bing-Neel syndrome) has only rarely been reported. We report a case of a 51-yr-old woman suffering from Waldenstrom's macroglobulinemia who complained of persistant headache. Brain magnetic resonance imaging revealed an extra-axial soft tissue mass along the left cavernous sinus, left tentorium, right tentorium, and falx cerebri. A stereotactic biopsy of dural tissue from the falx was performed and showed plasmacytoid lymphocyte infiltration. The patient became symptom- free with irradiation of the whole brain followed by chemotherapy with fludarabine.
Antibodies, Monoclonal/therapeutic use ; Brain/pathology ; Central Nervous System Diseases/etiology/*therapy ; Cranial Irradiation ; Female ; Humans ; Middle Aged ; Syndrome ; Vidarabine/analogs & derivatives/therapeutic use ; Waldenstrom Macroglobulinemia/*complications

OBJECTIVETo analyze the phenotype and genotype of CMTX1 patients with episodic transient reversible white matter involvement, and delineate the features of brain MRI in the episode and the possible mechanisms.

METHODThree Chinese probands and their family members were sequenced in the coding regions of GJB1. With the other 16 reported CMTX1 patients with episodic transient reversible white matter involvement, the clinical feature of the episodic central nervous system symptoms and the genotypes were reviewed.

RESULTMissense mutations in GJB1 were identified in all 3 probands. In 19 patients with transient reversible white matter involvement, the episodes were manifested as weakness of the limbs, dysarthria, and dysphagia, without disturbance of consciousness or seizures. The episodes lasted for 13 hours (10 min-72 hours) with complete remission in all patients; There were multiple episodes in 9 patients. During the episode, brain MRI showed symmetrical high signals in T2 weighted, Flair and DWI images in periventricular white matter, with predominance in posterior region including splenium of corpus callosum. These changes in imaging were most prominent during or within 1 week after the clinical episode.Significant improvements occurred within 1 month, with complete remission within 4-6 months.No specific locations of mutant amino acids in GJB1 protein were found in these patients with episodic transient reversible white matter involvement.

CONCLUSIONEpisodic transient reversible white matter involvement may present in a small number of patients with CMTX1. Transient edema of oligodendrocytes due to the dysfunction of gap junction may be involved in the pathogenesis. There is no correlation between the location of the mutant amino acids in GJB1 and the occurrence of the episodes.

Adolescent ; Brain ; diagnostic imaging ; pathology ; Brain Diseases ; diagnostic imaging ; etiology ; pathology ; Central Nervous System ; pathology ; Charcot-Marie-Tooth Disease ; complications ; genetics ; pathology ; Child ; Connexins ; genetics ; Corpus Callosum ; pathology ; Genetic Linkage ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation, Missense ; Pedigree ; Phenotype ; Radiography

Glomerulonephritis and pulmonary hemorrhage are features of Goodpasture's syndrome. Goodpasture's syndrome accompanied with central nervous system (CNS) vasculitis is extremely rare. Herein, we report a rare case of CNS vasculitis associated with Goodpasture's syndrome in a 34-year-old man, who presented with a seizure and sudden onset of right sided weakness. He also had recurrent hemoptysis of one month's duration. Goodpasture's syndrome is histologically diagnosed by intense linear deposits of IgG along the glomerular basement membrane in both renal and lung tissues.
Adult ; Anti-Glomerular Basement Membrane Disease/complications/*diagnosis/therapy ; Anti-Inflammatory Agents/administration & dosage ; Brain/*pathology ; Contrast Media/administration & dosage ; Diagnosis, Differential ; Fluorescent Antibody Technique ; Hemoptysis/etiology ; Humans ; Image Enhancement/methods ; Immunoglobulin G/immunology ; Kidney/ultrasonography ; Lung/pathology/*radiography ; Magnetic Resonance Imaging ; Male ; Methylprednisolone/administration & dosage ; Muscle Weakness/etiology ; Plasmapheresis ; Rare Diseases ; Seizures/etiology ; Tomography, X-Ray Computed ; Vasculitis, Central Nervous System/*diagnosis/etiology/therapy