Arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells and collagen that may develop between the surface of the brain and the cranial base or on the arachnoid membrane, one of the three membranes that cover the brain and the spinal cord. Arachnoid cysts are a congenital disorder, and most cases begin during infancy; however, onset may be delayed until adolescence. Noah has a tiny cyst on each temple of the brain. Many people go their entire life not knowing they have Arachnoid Cysts.
Eosinophilic Esophagitis (EE) is an allergic reaction in the esophagus, the tube that carries food from the mouth to the stomach. Although it is a relatively rare disease, a growing number of cases have been diagnosed in recent years. Like food allergies, EE is caused by a defect in the body’s immune response. However, while food-allergic reactions are triggered by immunoglobulin E (IgE), white blood cells called eosinophils are the culprits in EE. Eosinophils are important players in the immune system and usually do their primary job—fighting parasites and other infections—without causing any problems. But when abnormally large numbers of eosinophils gather in your esophagus, they cause inflammation. In this case, the inflammation resembles a skin rash in the lining of the esophagus, which makes it difficult for food to go down.
Common symptoms of EE include:
- Heartburn or acid reflux symptoms that do not go away with medication
- Difficulty swallowing
- Food impactions (food gets stuck in the throat)
- Nausea and vomiting
- Poor growth or weight loss
- Abdominal or chest pain
- Poor appetite
- Malnutrition
FOXG1 Syndrome At least 18 mutations in the FOXG1 gene have been found to cause the congenital variant of Rett syndrome. This rare condition is characterized by severe intellectual disability, abnormally small head size (microcephaly), jerky limb movements, seizures, and absent language. The signs and symptoms of the congenital variant become apparent in early infancy; unlike the classic form of Rett syndrome, there is no early period of apparently normal development. Most of the identified FOXG1 gene mutations prevent the production of any functional forkhead box G1 protein. A few other mutations change single protein building blocks (amino acids) in a critical region of the protein. Studies suggest that a loss of forkhead box G1 function disrupts normal brain development, leading to intellectual disability and the other features of the congenital variant of Rett syndrome. A few people have been found to have an extra copy (duplication) of the part of chromosome 14 that contains the FOXG1 gene. People with these duplications have had recurrent seizures or spasms starting in infancy, intellectual disability, and severe speech impairment. Duplications of the FOXG1 gene have also been identified in several infants diagnosed with West syndrome, a condition characterized by recurrent seizures that begin in infancy, severe to profound intellectual disability, and related brain abnormalities. Characteristics – mild postnatal growth deficiency, severe postnatal microcephaly, severe mental retardation with absent language development, deficient social reciprocity resembling autism, combined stereotypies and frank dyskinesias, epilepsy, poor sleep patterns, irritability in infancy, unexplained episodes of crying, recurrent aspiration, and gastro-oesophageal reflux. Brain imaging studies reveal simplified gyral pattern and reduced white matter volume in the frontal lobes, corpus callosum hypogenesis, and variable mild frontal pachgyria.
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