rare deseases

Kluver-Bucy syndrome is a rare brain disorder that arises from lesions in the parietal lobes, resulting in behavioral changes related to memory, social interaction and sexual functioning. Generally, this syndrome is caused by severe blows to the head, however, it can also happen when the parietal lobes are affected by a degenerative disease, such as Alzheimer's, tumors or by infections, such as herpes simplex

Catalepsy is a disorder that prevents a person from moving because of muscle stiffness; however, the senses and vital functions continue to function, which can take from minutes to hours, and in rare cases can last up to a few days. There are stories of people buried alive during a cataleptic state, which today would be impossible, since there are devices that detect vital functions, such as the electroencephalogram and the electrocardiogram

Reye's syndrome is a rare and serious, often fatal, disease that causes inflammation of the brain and rapid accumulation of fat in the liver. Usually, the disease manifests itself as nausea, vomiting, confusion or delirium. The causes of Reye's Syndrome are related to certain viruses, such as influenza virus or chicken pox, and the use of aspirin or salicylate-derived medicines to treat fever in children with these infections

Lassa fever is a rare viral infectious disease, uncommon in Brazil, which is transmitted by infected animals, such as spiders and rodents, mainly rats from regions such as Africa. Symptoms of Lassa fever may take up to 3 weeks to emerge, so a person who suspects the disease after having been in Africa should consult a general practitioner to diagnose the disease and initiate appropriate treatment

Water allergy, known scientifically as aquagenic urticaria, is a rare disease in which the skin develops red and irritated spots shortly after skin contact with water, regardless of temperature or composition. Thus, people with this condition usually present allergy to any type of water, whether the sea, the pool, the sweat, hot, cold or even filtered to drink, for example

The bubonic plague, commonly known as the Black Plague, is a serious and often fatal disease caused by the bacterium Yersinia pestis , which is transmitted through the fleas of rodent animals to humans. This plague had a very important outbreak in the Middle Ages, killing nearly 30% of the population of Europe, but today it is quite rare, being more frequent in some places of sub-Saharan Africa and in the islands of Madagascar, for example

Pigeon chest is the popular name given to a rare malformation, scientifically known as Pectus carinatum , in which the sternum bone is more exited, causing a saliency in the chest. Depending on the degree of the change, this overhang may be quite noticeable or go unnoticed. Generally, the child with Pectus carinatum does not have any health problem, because the heart and lung continue to function properly, however, due to the physical alteration, it is common for the child to feel uncomfortable with his own body

Diffuse cutaneous mastocytosis is a rare disease caused by a disorder in the immune reaction, where mast cells (defense cells) accumulate in the tissues of the skin or other tissues of the body, especially in the bone marrow and gastrointestinal tract. Mastocytosis may be confined to the skin or may involve other organs such as the stomach, intestines, liver, spleen, lymph nodes, and bones

Vogt-Koyanagi-Harada syndrome is a rare disease that affects melanocyte-containing tissues such as the eyes, central nervous system, ear and skin, causing inflammation in the retina of the eye, often associated with dermatological and hearing problems. This syndrome occurs mainly in young adults between the ages of 20 and 40, with women being the most affected

Cystinosis is a congenital disease in which the body accumulates excess cystine, an amino acid that, when it is in excess inside the cells, produces crystals that impede the correct functioning of the cells and, therefore, this disease can affect several organs of the body, being divided into 3 main types: Nephropathic cystinosis : mainly affects the kidneys and arises in the baby, but can evolve to other parts of the body like the eyes; Intermediate cystinosis: it is similar to nephropathic cystinosis but begins to develop in adolescence; Ocular cystinosis : is the least serious type that affe

Autoimmune encephalitis is an inflammation of the brain that arises when the immune system attacks the brain cells themselves, impairing their functioning and causing symptoms such as tingling in the body, visual changes, seizures, or shaking, for example, that may or may not cause sequelae. This disease is rare, and can target people of all ages

Autoimmune hepatitis is a disease that causes chronic inflammation in the liver due to a disorder in the immune system, which recognizes its own cells as foreign and attacks them, causing damage to liver function and symptoms such as abdominal pain, yellowing of the skin or strong nausea, for example

The arachnoid cyst consists of a benign lesion formed by cerebrospinal fluid, which develops between the arachnoid membrane and the brain. In rarer cases it may also form in the spinal cord. These cysts can be primary or congenital when they are formed during the development of the baby during pregnancy, or secondary, when they form throughout life due to trauma or infection, being less common

Lynch syndrome is a rare genetic disease that increases the risk of having colon or bowel cancer and may even trigger the onset of this cancer in young people. Usually families who have Lynch syndrome have an abnormally high number of cases of bowel cancer, which can help the doctor get to the diagnosis

Treacher Collins syndrome is a rare genetic disorder characterized by poorly shaped head and face, leaving the person with drooping eyes and a decentralized jaw. Because of poor bone formation, people with this syndrome may have very difficult hearing, breathing and eating, however, Treacher Collins syndrome does not increase the risk of death and does not affect the central nervous system, allowing development if given normally

Alagille syndrome is a rare genetic disease that severely affects several organs, especially the liver and heart, and can be fatal. This disease is characterized by insufficiency of bile and hepatic ducts, thus leading to the accumulation of bile in the liver, which prevents it from working normally to eliminate waste from the blood

Hartnup's disease is a rare and hereditary disorder characterized by the production of skin rashes and brain changes. This disorder affects the way the body processes amino acids and the carriers of this disease can not absorb some amino acids at the level of the intestine and also do not convert tryptophan correctly, and as a consequence excrete them in excessive quantities in the urine producing very characteristic symptoms because certain amino acids remain in the body in much smaller amounts than normal consederates

Zellweger's syndrome is a rare genetic disease that causes changes in the skeleton and face, as well as serious damage to important organs such as the heart, liver and kidneys. In addition, it is also common the appearance of lack of strength, difficulty to listen and convulsions. Babies with this syndrome usually show signs and symptoms as early as the first few hours or days after birth, so your pediatrician can ask to have blood and urine tests done to confirm the diagnosis

Shy-Drager syndrome, also called multi-system atrophy with orthostatic hypotension, is a rare disease of unknown cause characterized by severe and progressive impairment of the central and autonomic nervous system, which controls involuntary body functions . There are 3 types of this syndrome: Parkinsonian shy-drager syndrome : In addition to the typical symptoms of the disease, there is similarity to Parkinson's disease, where the individual also presents slow movements, muscular rigidity and tremors; Cerebellar shy-drager syndrome : In addition to the typical symptoms of the disease there

Gigantism is a rare disease in which the body has excess growth hormone, causing the organs and parts of the body to grow more than normal. When the disease arises from birth, it is known as gigantism, but if the disease occurs in adulthood, usually around the age of 30 or 50, it is known as acromegaly