ERDHEIM CHESTER DISEASE

-
Erdheim-Chester disease (ECD) is a rare condition that can affect many parts of the body, also known as Non Langerhan cells histiocytosis. It has been diagnosed in children, but it most commonly affects adults. ECD causes the over-production of immune cells called histiocytes, which then accumulate in tissues and organs in the body. Parts of the body that may be involved include the long bones, retroperitoneum, skin, eyes and eyelids, lungs, brain, heart, kidneys, and pituitary gland; however various other tissues or organs can be affected.

The signs and symptoms of ECD vary from person to person depending upon the specific locations and extent of involvement. For example, the long bones of the legs are commonly affected, leading to bone pain. When tissues around the eyes are affected, a person may have soft, fatty bumps on the eyelids or protrusion of the eyeballs. Lung involvement may cause pulmonary fibrosis, which can lead to life-threatening complications. People with pituitary gland involvement may develop diabetes insipidus, and brain involvement may lead to various neurologic symptoms. Non-specific symptoms that may develop in people with ECD include weight loss, fever, muscle and joint aches, and malaise.

The underlying cause of ECD is not always known. Some people with ECD test positive for an acquired (non-inherited) mutation in the BRAF gene (most commonly) or one of several other genes, which may allow histiocytes to reproduce uncontrollably. The disease is diagnosed based on the symptoms, biopsies of involved tissue examined under a microscope (pathology), and specialized tests that may include blood tests and imaging studies such as X-rays, CT scans, MRIs, and bone scans.

There is no cure or standard treatment for ECD. Various treatments have been attempted with varying success at controlling symptoms, including corticosteroids, chemotherapy, radiation therapy, immunotherapy, and surgery. A medication called vemurafenib was approved by the FDA to treat some people with ECD who have the BRAF gene mutation. The long-term outlook (prognosis) varies from person to person. Without successful treatment organ failure can occur, but with treatment, there are people with ECD who are able to live a near-normal life.




Comments

Post a Comment

Popular posts from this blog

CAH - CONGENITAL ADRENAL HYPERPLASIA

-
Image
C   ongenital Adrenal Hyperplasia or CAH, is a disorder which is characterised by defects in enzyme that lead to various effects.  The most common enzyme affected in CAH is 21 hydroxylases enzyme. The second most common enzyme to be affected is 11-β-hydroxylase enzyme. The gene CYP 21A 2 is affected, this is the same gene that codes for 21 hydroxylases. The following image shows the steroid pathway that takes place in the adrenal glands, where cholesterol is the basic material used for synthesis.  Here 21 OH stands for 21 Hydroxylase, 11 beta signifies 11-β-hydroxylase. As the normal physiological process, 21 hydroxylase enzyme acts as an important enzyme for synthesis of corticosteroids and mineralocorticoids. As there is 21 hydroxylase deficiency there will be reduction in the production of corticosteroids and mineralocorticoids. Due to deficiency of mineralocorticoids, there will be salt and water wasting. As the levels of corticosteroids decrease
Read more

Neurosurgery - Telovelar approach

-
Image
 Telovelar approach is carried out for the removal of any pathology that is present inside the 4th ventricle or the rhomboid fossa of the brain. The Space seen here behind the cerebellum is the rhomboid fossa (Fossa is just a trench or a channel). This rhomboid fossa forms a part of the 4th ventricle, which is connected to the third ventricle above by cerebral aqueduct and then runs downwards into the spinal cord as the central canal of the spinal cord, carrying the CSF (CerebroSpinal Fluid). The part behind the PONS and between the white core of cerebellum is called as the 4th ventricle. {For more information on anatomy of brain, please refer to our another blog on BRAIN}
Read more

THE BRAIN

-
Image
T he Human brain is by far the most complex structure to be ever build. Its complexity has dazzled majority of the people since last century and is still the topic of research. The adult brain weighs about 1.3 – 1.5 kg and is approximately 2% of or total body weight, with Surface area of approximately 1120 cc in males and 1130 cc in females. In spite of its small size it contains millions and billions of neurons that carry out daily functions of the body and may be create someone like Einstein whose brain is still preserved for research purposes. The basic functional unit of brain is called as a neuron. It is a specialised type of cell that has the capacity to conduct and transfer electrical impulses, but once damaged can take years to regenerate. There are various types of neurons and are classified according to – A)   The number of dendrites/processes B)    The length of axons According to number of processes they are 1.     Unipolar 2.    
Read more