What is Exploding Head Syndrome? The exploding head syndrome sounds like it comes from a science fiction movie, but it is a real phenomenon which remains a medical mystery.  People experience a loud and frightening noise, like a loud bang, a shotgun, a roar, thunder, etc. It happens either while the patient is falling asleep or right after falling asleep. The sound is sudden and awakens them.  Fear and anxiety follows, along with a surge of adrenaline.  It is a common sleep disorder which is not harmful but it is stressful and disturbing for the patient.  [1] Actually it seems that most people have this sort of incident at some [...]

What is Hurler Syndrome? Hurler syndrome belongs to a group of inherited metabolic storage disorders in which a person cannot break down chains of sugar molecules called glycosaminoglycans. These complex sugars are necessary for the body to build bones and tissues. Hurler syndrome belongs to a group of diseases known as mucopolysaccharidoses or MPS. It is also known as mucopolysaccharidosis type I or MPS I as well as gargoylism. Mucopolysaccharides used to be a term referred to as glycosaminoglycans. Mucopolysaccharidoses are disorders characterized by a genetic mutation. Hurler syndrome is just one of the three subtypes of mucopolysaccharidoses but is considered to be the most severe of the MPS I [...]

What is Cowden Syndrome Cowden syndrome, termed as Cowden disease and multiple hamartoma syndrome is an uncommon condition that is genetic or familial. It is primarily autosomal dominant in nature. The disease is characterized by occurrences of multiple hamartomas or non-cancerous skin irregularities that are usually increasing in a disorganized manner. These hamartomas consequently predisposes the patient to a greater risk for cancers or malignancies. Cowden syndrome almost affects the integumentary area of the body (skin) and more than half of the cases affect the thyroid gland. Frequent locations of the hamartomas are the eyes, the gastrointestinal as well as the genitourinary tract and the mucosa. Mucocutaneous zones or the [...]

What is Triple X syndrome Triple X is a rare genetic syndrome where there is an addition of X chromosome in a cell of a female. In the genetic makeup, the female genes comprise of XX chromosomes. In a rare occasion, an additional X chromosome or even more is added to the XX pair thus Triple X syndrome happens. This condition is also called as the Trisomy X, 47, Triplo-X or XXX aneuploidy. This is called as 47 because conventionally there are 46 chromosomes in the body. With the addition of 1 chromosome, it is then called as 47. What happens in the chromosomal level? Triple X is a rare [...]

What is Crigler–Najjar syndrome? Crigler Najjar Syndrome or CNS is a rare type of disorder that affects bilirubin metabolism. Bilirubin is a chemical that is produced as a byproduct of heme catabolism. Crigler Najjar Syndrome gives rise to a form of inherited non-hemolytic jaundice resulting in the production of large quantities of un-conjugated bilirubin. The syndrome frequently causes cerebral damage in infants. Crigler Najjar Syndrome has two types, type I and type II. The Crigler Najjar Syndrome, type II is sometimes referred to as Arias syndrome. Crigler Najjar syndrome, type I This rare disease is an autosomal recessive disorder and it affects around 6 to 10 people in per 10 [...]