Methemoglobinemia is a disorder that is related to the blood and is the result of there being very little oxygen in the red blood cells. This results in the pigmentation of the skin is somewhat blue since there is no oxygenation to the extremities. There are other health complications as well, such as difficulties breathing, diarrhea, vomiting, excessive salivation, feeling extremely lethargic, and losing consciousness.
It is an inherited disorder but can also result from exposure to certain drugs or chemicals. Removing the cause will improve the condition. The most common treatment for this disorder is methylene blue, which converts the ferric iron in the hemoglobin into ferrous iron so it can be more readily absorbed. Other treatment options include blood transfusions, oxygen therapy, and ascorbic acid to reduce the methemoglobin level in the blood.
Brain stones, also called cerebral calculi, are calcifications found inside the skull. A young Brazilian male reported having throbbing headaches and problems with his vision, and doctors found brain stones. The doctors believed that the brain stones resulted from complications with celiac disease, which the man didn’t know he had. The only treatment for brain stones is removed through surgery.
Because brain stones are so rare, there isn’t much literature about the subject, and, as a result, there is no definitive cause for the stones forming. One of the most common symptoms caused by brain stones is headaches, seizures, and behavioral changes. Over time, without treatment, these symptoms only get worse and increase in frequency.
Progeria is one of the strangest disorders out there. It appears during the early onset of children, usually at the age of 1. However, children never get any bigger by age five, leading to very short stature. By the time a child becomes 10, they already have the appearance of an older adult, with thin skin, pronounced formation of blood vessels, thinning hair, and vascular disease. It’s as if the child is experiencing rapid aging.
Heart disease develops at this point, and most individuals with the disorder pass away before they reach 30. There is no treatment or cure for the condition, and it is also not an inherited disorder. It is the result of a spontaneous mutation of a gene, so there is no way to predict that this disorder will appear.
Aarskog syndrome is a genetic disorder that affects overall appearance, as well as the skeleton, muscles, and stature. The parts of the body most affected are the face, toes, and fingers. A diagnosis is usually made at the time of birth because of the presence of facial abnormalities: expanded width of the forehead, drooping of the eyelids, wide-set eyes, descending slant of the eye-opening, and hair growth at the widow’s peak.
Treatment of the syndrome is spread across the treatment of the different symptoms, including dental specialists, speech pathologists, cardiologists, eye specialists, and hearing specialists. You can have growth hormones to help improve height in children and ask about genetic counseling to assess the recurrent risk in families.