Humans ; Pedigree ; Tuberous Sclerosis ; pathology

OBJECTIVETo summarize the main findings seen on conventional and advanced magnetic resonance imaging (MRI) used to assess gray matter (GM) involvement in patients with multiple sclerosis (MS).

DATA SOURCESThe data used in this review were obtained mainly from studies reported in the PubMed database using the terms of multiple sclerosis, gray matter, magnetic resonance imaging.

STUDY SELECTIONRelevant literatures on studies of GM involvement in MS patients were identified, retrieved and reviewed.

RESULTSMS is the most common chronic, disabling central nervous system disease in young adults. Although traditional thinking has considered MS to be a chronic inflammatory demyelinating condition affecting solely the white matter (WM) of the central nervous system, over the last few years it has been shown that GM pathology is also common and extensive. GM demyelinating lesions can not only be found in the cerebral cortex but also in the deep gray nuclei. Apart from focal demyelinated lesions, diffuse neuronal loss and atrophy is also present in the GM of MS patients.

CONCLUSIONSThe widespread use of conventional and quantitative MRI based techniques in MS has led to an improved understanding of the mechanisms underlying the inflammatory and neurodegenerative processes of the disease. However, more researches are needed to unravel GM pathology in MS patients, which at present remains enigmatic.

Mast cell which is considered to participate in immune response has long been studied. However its true role in center nervous system is still unknown. Recently,mast cell has been found to play an important function during the process of multiple sclerosis and Wernicke's encephalopathy in the brain. Multiple sclerosis is an inflammatory demyelinating disease, and Wernicke's encephalopathy is caused by deficiency of thiamine. Mast cell deteriorates the neuronal damage and the course of diseases by their mediators. Such studies may supply new idea on the therapy of these diseases.
Animals ; Brain ; pathology ; Humans ; Mast Cells ; metabolism ; pathology ; Multiple Sclerosis ; metabolism ; pathology ; Wernicke Encephalopathy ; metabolism ; pathology

Autopsy ; Fetus ; Heart Neoplasms ; pathology ; Humans ; Rhabdomyoma ; pathology ; Tuberous Sclerosis ; pathology

Multiple sclerosis (MS) is regarded as a chronic inflammatory disease that leads to demyelination and eventually to neurodegeneration. Activation of innate immune cells and other inflammatory cells in the brain and spinal cord of people with MS has been well described. However, with the innovation of technology in glial cell research, we have a deep understanding of the mechanisms of glial cells connecting inflammation and neurodegeneration in MS. In this review, we focus on the role of glial cells, including microglia, astrocytes, and oligodendrocytes, in the pathogenesis of MS. We mainly focus on the connection between glial cells and immune cells in the process of axonal damage and demyelinating neuron loss.
Humans ; Multiple Sclerosis ; Neuroglia ; Inflammation/pathology* ; Brain/pathology* ; Spinal Cord/pathology*

Adult ; Female ; Humans ; Sclerosis ; pathology ; physiopathology ; Spleen ; pathology ; Splenic Neoplasms ; pathology

Balo's concentric sclerosis is regarded as a rare variant of multiple sclerosis. Traditionally, Balo's concentric sclerosis was a post-mortem diagnosis, but the recent introduction of brain magnetic resonance imaging (MRI) scans may allow noninvasive access without biopsy. Brain MRI findings of Balo's concentric sclerosis is characteristic concentric configuration of alternating bands of white matter of different pathology, with relatively preserved myelination alternating with regions of demyelination in the cerebral white matter. We report a case of Balo's concentric sclerosis with recurrent optic neuritis.
Biopsy ; Brain ; Demyelinating Diseases ; Diagnosis ; Diffuse Cerebral Sclerosis of Schilder* ; Humans ; Magnetic Resonance Imaging ; Multiple Sclerosis ; Myelin Sheath ; Optic Neuritis* ; Pathology

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with tuberous sclerosis complex (TSC). METHODS: The TSC1 and TSC2 genes were sequenced. Candidate variant was verified by Sanger sequencing of the proband and her family members. Pathogenicity of the variant was predicted based on the American College of Medical Genetics and Genomics (ACMG) guidelines. RESULTS: The proband was found to harbor a heterozygous c.52delC frameshift variant of the TSC2 gene, which may result in synthesis of amino acid chain starting from the 18th amino acid Leu and terminating at the 28th amino acid (p.Leu18CysfsTer28). The variant was unreported in the public database. Mutation Taster software predicted that the variant is harmful. Both parents of the proband were of the wild type, suggesting that the variant has occurred de novo. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PVS1 +PM2). CONCLUSION A novel pathogenic variant of the TSC2 gene c.52delC (p.Leu18CysfsTer28) was identified, which has enriched the mutational spectrum of TSC2 and provided a basis for genetic counseling for this pedigree.
Humans ; Female ; Tuberous Sclerosis/pathology* ; Tuberous Sclerosis Complex 2 Protein/genetics* ; Pedigree ; Mutation ; Amino Acids/genetics* ; China

Sjogren's syndrome is a chronic autoimmune disorder characterized by lymphocytic infiltration of the lacrimal and salivary glands, leading to dryness of eyes (kerato-conjunctivitis sicca) and mouth (xerostomia). The skin lesions in Sjogren's syndrome are usually manifested as xeroderma, but sometimes appear as annular erythema or vasculitis. Central nervous system symptoms may be presented as one of extraglandular manifestations, though rare in incidence, and need differential diagnosis from multiple sclerosis. We report a case of a 45-year-old woman diagnosed as multiple sclerosis at first but later as neurologic manifestation of primary Sjogren's syndrome, showing signs of multiple sclerosis and cutaneous erythematous lesions.
Case Report ; Diagnosis, Differential ; Erythema/pathology ; Erythema/diagnosis* ; Female ; Human ; Middle Age ; Multiple Sclerosis/pathology ; Multiple Sclerosis/diagnosis* ; Sjogren's Syndrome/pathology ; Sjogren's Syndrome/diagnosis*

Sclerosing hemangioma (SH) of the lung is an uncommon type of tumor, which is composed of polygonal and cuboidal cells. This disease is generally regarded as benign but extremely rare cases with lymph node metastasis have been reported. We report a case of SH with a metastasis to the regional lymph nodes. A 19-year-old girl presented with a 2-year history of coughing. A chest X-ray and a CT scan indicated a large mass in the lower lobe. As a result, a left lower lobectomy with a dissection of the hilar and interlobar lymph nodes was performed. The tumor was a well-defined huge mass with partial adhesion to the mediastinal and parietal pleura. The dissected hilar, interlobar, and intrapulmonary lymph nodes demonstrated metastasis. Histologically, the primary and metastatic tumor consisted of polygonal and cuboidal cells. Both types of tumor cells were uniformly immunoreactive to the epithelial membrane antigen (EMA) and the thyroid transcription factor-1 (TTF-1). However, the cuboidal cells tested positive for pancytokeratin, whereas the polygonal cells tested consistently negative. Postoperatively, the patient received chemotherapy and no recurrence or metastasis 2 years after surgery was noted. Although a pulmonary SH is considered to be benign, this case highlights the need for the evaluation of lymph node metastasis.
Adult ; Female ; Hemangioma/*pathology ; Human ; Lung Neoplasms/*pathology ; *Lymphatic Metastasis ; Sclerosis