The expansion and folding of the cerebral cortex occur during brain development and are critical factors that influence cognitive ability and sensorimotor skills. The disruption of cortical growth and folding may cause neurological disorders, resulting in severe intellectual disability and intractable epilepsy in humans. Therefore, understanding the mechanism that regulates cortical growth and folding will be crucial in deciphering the key steps of brain development and finding new therapeutic targets for the congenital anomalies of the cerebral cortex. This review will start with a brief introduction describing the anatomy of the brain cortex, followed by a description of our understanding of the proliferation, differentiation, and migration of neural progenitors and important genes and molecules that are involved in these processes. Finally, various types of disorders that develop due to malformation of the cerebral cortex will be discussed.
Brain ; Cerebral Cortex ; Drug Resistant Epilepsy ; Embryology ; Humans ; Intellectual Disability ; Malformations of Cortical Development ; Nervous System Diseases

Epilepsy is one of the world's most common neurologic disorders and epilepsy surgery is a major treatment option for intractable epilepsy in pediatric patients. Understanding the sequential steps of epilepsy surgery is important for the selection of appropriate candidate for surgery. Surgical methods in epilepsy surgery should be decided according to the results of the presurgical evaluation and they can be categorized into resective surgery and disconnective surgery. The implantation of neuromodulation is also a potential surgical approach. Here, we reviewed the current state of presurgical assessment for intractable epilepsy in pediatric patients, novel surgical procedures, and associated outcome data.
Child ; Drug Resistant Epilepsy ; Epilepsy* ; Humans ; Nervous System Diseases

No abstract available.
Brain* ; Central Nervous System Diseases* ; Central Nervous System* ; Child* ; Humans

No abstract available.
Brain* ; Central Nervous System Diseases* ; Central Nervous System* ; Child* ; Humans

No abstract available.
Brain* ; Child* ; Humans ; Nervous System Diseases*

Brain ; pathology ; Demyelinating Diseases ; complications ; diagnosis ; pathology ; Encephalomyelitis ; complications ; diagnosis ; pathology ; Fatal Outcome ; Humans ; Leukoencephalitis, Acute Hemorrhagic ; complications ; diagnosis ; pathology ; Magnetic Resonance Imaging ; Male ; Young Adult

Epilepsy is one of the most common chronic neurological disorder affecting 6–7 per 1000 worldwide. Nearly one-third of patients with newly diagnosed epilepsy continue to have recurrent seizures despite adequate trial of more than two anti-seizure drugs : drug-resistant epilepsy (DRE). Children with DRE often experience cognitive and psychosocial co-morbidities requiring more urgent and aggressive treatment than adults. Epilepsy surgery can result in seizure-freedom in approximately two-third of children with improvement in cognitive development and quality of life. Understanding fundamental differences in etiology, co-morbidity, and neural plasticity between children and adults is critical for appropriate selection of surgical candidates, appropriate presurgical evaluation and surgical approach, and improved overall outcome.
Adult ; Child ; Drug Resistant Epilepsy ; Epilepsy ; Humans ; Nervous System Diseases ; Plastics ; Quality of Life ; Seizures

Previous concepts of immune-privileged sites obscured the role of peripheral immune cells in neurological disorders and excluded the consideration of the potential benefits of immunotherapy. Recently, however, numerous studies have demonstrated that the blood-brain barrier in the central nervous system is an educational barrier rather than an absolute barrier to peripheral immune cells. Emerging knowledge of immune-privileged sites suggests that peripheral immune cells can infiltrate these sites via educative gates and that crosstalk can occur between infiltrating immune cells and the central nervous system parenchyma. This concept can be expanded to the testis, which has long been considered an immune-privileged site, and to neurogenic bladder dysfunction. Thus, we propose that the relationship between peripheral immune cells, the brain, and the urologic system should be considered as an additional possible mechanism in urologic diseases, and that immunotherapy might be an alternative therapeutic strategy in treating neurogenic bladder dysfunction.
Blood-Brain Barrier ; Brain ; Central Nervous System ; Immune System* ; Immunotherapy ; Nervous System Diseases* ; Testis ; Urinary Bladder, Neurogenic ; Urologic Diseases ; Urology*

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We experienced a case of a newborn who required intubation and ventilator care because of profound hypotonia and respiratory difficulty. The preliminary diagnosis at the time of request for retrieval was hypoxic ischemic encephalopathy, but the infant was clinically reevaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size and centrally located nuclei in nearly all the fibers. We detected an MTM1 gene mutation of c.1261-1C>A in the intron 10 region, and diagnosed the neonate with myotubular myopathy. The same mutation was detected in his mother.
Biopsy ; Humans ; Hypoxia-Ischemia, Brain ; Infant ; Infant, Newborn ; Introns ; Intubation ; Male ; Mothers ; Muscle Hypotonia ; Muscle Weakness ; Muscles ; Muscular Atrophy ; Muscular Diseases ; Myopathies, Structural, Congenital ; Ventilators, Mechanical

We report an 11-month-old male who presented with recurrent seizures, subdural bleed, skull fracture, lightly pigmented hair, and fair lax skin. Copper and ceruloplasmin levels were low and gross deletion of ATP7A gene was found confirming the diagnosis of Menkes disease. The presence of subdural bleed and skull fracture prompted a referral to the Child Protection Unit to rule out child abuse.
Human ; Male ; Female ; Adult ; Infant ; MENKES KINKY HAIR SYNDROME ; NERVOUS SYSTEM DISEASES ; CENTRAL NERVOUS SYSTEM DISEASES ; BRAIN DISEASES ; BRAIN DISEASES, METABOLIC ; BRAIN DISEASES, METABOLIC, INBORN ; CERULOPLASMIN ; COPPER