rare deseases

Acute transverse myelitis is an inflammation that affects the two sides of a part of the spine, causing symptoms such as back pain, weakness of the legs or arms, paralysis and even decreased sensitivity in the hands, being sometimes confused with poliomyelitis, Guillian-Barré and traumatic neuritis.

West syndrome is a rare disease characterized by frequent epileptic seizures, being more common among boys and beginning to manifest during the first year of the baby's life. Usually the first crises happen between the 3 and 5 months of life, although the diagnosis can be made until the 12 months

The hermaphrodite person is one who has two genital organs, both male and female, at the same time, and can be identified at birth. The causes of hermaphroditism are not yet well established, but one of the theories is that there were genetic changes during the development of the baby. Another form of hermaphroditism is where the child is born with a well-defined external genital region, but has other important gonadal changes, such as a boy who, when he reaches adolescence, menstruates and develops breasts, for example

Schwannoma, also known as neurinoma or neurilemoma, is a type of benign tumor that affects Schwann cells located in the peripheral or central nervous system. Usually, this tumor arises after 50 years of age, and may arise in the head, knee, thigh or retroperitoneal region, for example. Treatment consists of surgical removal of the tumor, but in some cases, it may not be possible because of its location

Xeroderma pigmentosum, commonly known as XP, is a rare and hereditary genetic disease characterized by skin hypersensitivity to the sun's ultraviolet rays, resulting in dry skin and the presence of freckles and white patches, especially in areas of increased sun exposure. XP usually appears in childhood and can be seen by the child's greater tendency to present severe burns after a few minutes of sun exposure, besides the appearance of freckles on the face, arms and lips before the age of 2 years

Rhabdomyolysis is a severe syndrome that causes destruction of muscle fibers and may occur after direct or indirect trauma to a muscle in the body. After their destruction, the muscle fibers release substances toxic to the bloodstream that end up causing serious complications in the kidneys, and can even result in renal failure

Treatment for Morgagni hernia, which is a rare congenital problem in the diaphragm, should be guided by a general surgeon and is usually done with surgery to correct the problem soon after diagnosis. Generally, surgery is performed by laparoscopy through a small cut between the ribs where the surgeon inserts a small flexible tube into the diaphragm to correct the diaphragm defect

Fetal hydrops is a rare disease in which fluid accumulates in various parts of the baby's body during gestation, such as in the lungs, heart, and abdomen. This disease is very serious being of difficult treatment and can lead to the death of the baby still early in life or to a miscarriage. In February 2016 the hydrops was found in a fetus that also had microcephaly and did not survive gestation

Porphyria corresponds to a group of genetic and rare diseases that are characterized by the accumulation of substances producing porphyrin, which is a protein responsible for transporting oxygen into the bloodstream, being essential for the formation of heme and consequently hemoglobin. This disease mainly affects the nervous system, skin and other organs

Ectopia cordis, also known as cardiac ectopy, is a very rare malformation in which the baby's heart is located outside the chest below the skin. In this malformation, the heart may be located completely outside the chest or only partially outside the chest. In most cases, there are other associated malformations and, therefore, the average life expectancy is a few hours, and most babies end up not surviving after the first day of life

Treatment of Yersinia pestis infection should be initiated shortly after the first symptoms of the disease from the administration of antibiotics for a period of 10 days depending on the medical report, such as: Streptomycin; Tetracycline; Gentamicin; Fluoroquinolone; Chloramphenicol. The treatment is done in isolation to prevent the spread of the bacteria

Noma is a disease that usually manifests itself in the poorest countries, due to poor hygiene and poor nutrition, which causes the destruction of the mouth and face, beginning with the appearance of a small wound inside the mouth that is spreading to the rest of the tissues of the mouth and bones. This disease is still untreated, causing death in most cases, unless it is detected early and the infection can be stopped with good hygiene and administration of antibiotics

Progeria, also known as Hutchinson-Gilford Syndrome, is an extremely rare childhood genetic disorder characterized by accelerated aging about seven times the normal rate. Generally, the first symptoms appear around the age of 2 including much lens growth and hair loss, for example. Because it is a disease that causes rapid aging of the body, children with Progeria have a life expectancy of 14 years for girls and 16 for boys

What is it? Rokitansky syndrome is a rare disease that causes changes in the uterus and vagina, causing them to be poorly developed or absent. Thus, it is common for the girl, who is born with this syndrome, to have a vaginal canal short, absent or even born without a uterus. Usually, this syndrome is detected in adolescence, around the age of 16 years when the girl does not present menstruation or when, when initiating sexual activity, difficulties are found that impede or make difficult the intimate contact

Behçet's disease is a rare condition characterized by the inflammation of different blood vessels, causing the appearance of skin lesions, mouth ulcers and vision problems. Symptoms do not usually appear at the same time, with several life-threatening seizures. This disease is more common in the 20 to 40 years, but can happen at any age, and affects men and women in the same proportion.

Ménière syndrome is a disease that causes inner ear dysfunction and although there is no cure, it is possible to resort to various types of treatments to improve symptoms and prevent worsening of the disease. Treatment usually consists of changes in habits and use of medicines that reduce vertigo, such as Dimenhydrate, Betametin or Hydrochlorothiazide, for example.

Vincent's angina, also known as acute necrotizing ulcerative gingivitis, is a rare and serious disease of the gums, characterized by the excessive development of bacteria inside the mouth, causing infection and inflammation, leading to the formation of ulcers and gingival tissue death. Usually the treatment is done with antibiotics, but it is also very important to maintain a proper oral hygiene, washing the teeth after eating and always use a mouthwash

Idiopathic thrombocytopenic purpura is an autoimmune disease in which the body's own antibodies destroy blood platelets, resulting in a marked reduction of such cells. When this happens, the body has more difficulty stopping bleeding, especially in the case of sores and strokes. Due to the lack of platelets, it is also very common that one of the first symptoms of thrombocytopenic purpura is the frequent appearance of purple spots on the skin at various places in the body

Alkaptonuria, also called ochronosis, is a rare disease characterized by an error in the metabolism of the amino acids phenylalanine and tyrosine due to a small mutation in the DNA. This disease occurs due to lack of an enzyme, the homogentisate dioxygenase or homogentisate oxygenase, which leads to the accumulation of homogentisic acid, which is an intermediate compound of the metabolism of these amino acids and which under normal conditions is not detectable in the blood

Cyclic vomiting syndrome is a rare disease that is characterized by periods in which the individual spends hours at a time especially vomiting when he is anxious for something. This syndrome can occur in people of all ages, being more frequent in children of school age. This syndrome has no cure and no specific treatment, and it is usually recommended by the doctor to use antiemetic drugs to reduce dizziness and increase fluid intake to avoid dehydration