Cerebral gigantism

Below you will find more information about Cerebral gigantism from Medigest. If you believe that you are suffering from any of the symptoms of Cerebral gigantism it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cerebral gigantism and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cerebral gigantism comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Cerebral gigantism, also known as Sotos syndrome, is a rare hereditary disease characterized by excessive abnormal growth during birth, and extreme physical growth during early childhood years. The growth is purely physical, as there is no increased serum growth hormone levels. Sometimes, the condition may be accompanied by various levels of mental retardation, hypotonia, hindered motor, social, and cognitive development, and speech problems. Children born with cerebral gigantism are larger than normal during birth, and also possess a condition called macrocrania, where their heads are larger than normal. The disease may occur sporadically, or it can also occur in familial cases.

Symptoms and Signs

The symptoms are an abnormally large head, a slightly protruding forehead, large hands and feet, downslanting eyes, advanced bone age, dysmorphic individuals with macrodolichocephaly, a pointed chin, downslanting palpeberal fissures, and hypertelorism, a condition wherein the distance between the eyes is abnormally long. Behavioral problems are common with those who have cerebral gigantism; this includes irritability, attention deficit hyperactivity disorder (ADHD), tantrums, obsessions and compulsions, phobias, and impulsive behavior. Other symptoms of the disease include scoliosis, heart or kidney problems, seizures, vision and hearing problems. Jaundice, yellowing of the skin, and poor feeding may also be other symptoms present in infants born with the disease.


A number of causes may result in cerebral gigantism. The most popular is the forceful use of antiseptics when cleaning the umbilical cord. Immunodeficiencies can also cause the disease, such as when leukocyte adhesion defects the affecting chemotaxis, a Sialyl Lewis X antigen deficiency, neonatal alloimmune neutropenia, and defective immune interferon. Also, when the gestational age is below 37 weeks, this may result in cerebral gigantism. Caesarean section births are another possible cause, owing to the delayed separation and bacterial colonization that occurs through delivery. Other possible causes are neonatal sepsis, urachal anomalies, and histiocytosis x. Genetics plays a large role in causing cerebral gigantism. The gene NSD1, responsible in providing instructions for normal growth and development, can mutate. The gene mutation results in cerebral gigantism. Almost all of the cases of cerebral gigantism come from families who have no history of the disease and rather result from a new mutation, although a few record cases have repeat cases. In other words, the condition has an autosomal dominant pattern of inheritance, which means that a single copy of the altered gene is enough to cause the disease.

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