He was brought over by Operation Smile to receive the major surgery in Virginia, at the Childrens Hospital of the Kings Daughters. The other facial defects within the fifty-minute programme consisted of children with facial cleft and cleft lip and palate which may be associated with encephalocele. In November 2006, there was an hour-long documentary on the British television network Channel 4 about Facing the World, an organization that helps children with severe facial disfigurements in developing countries. One of the children featured on the documentary was Ney, a Cambodian boy who had a severe form of encephalocele, wherein part of his brain protruded through his face. On December 4, 2012, Dr. Meara again led a cranio-facial surgical team to remove the encephalocele of an infant, Dominic Gundrum, the son of a Wisconsin Court of Appeals judge and his wife. The surgery also closed the babys skull, repaired a Tessier facial cleft, and brought the babys facial features together. See also
Cephalic disorder
Knobloch syndrome

References
9. Chaturvedi J, Goyal N, Arora RK, Govil N. Giant occipitocervical encephalocele. J Neurosci Rural Pract 2018;9:414-6

External links

encephaloceles at NINDS
Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to its excretion in urine. Fructokinase (sometimes called ketohexokinase) is the first enzyme involved in the degradation of fructose to fructose-1-phosphate in the liver.This defective degradation does not cause any clinical symptoms, fructose is either excreted unchanged in the urine or metabolized to fructose-6-phosphate by alternate pathways in the body, most commonly by hexokinase in adipose tissue and muscle. Cause
Essential fructosuria is a genetic condition that is inherited in an autosomal recessive manner. Mutations in the KHK gene, located on chromosome 2p23.3-23.2 are responsible. The incidence of essential fructosuria has been estimated at 1:130,000. The actual incidence is likely higher, because those affected are asymptomatic. Diagnosis
A diagnosis of essential fructosuria is typically made after a positive routine test for reducing sugars in the urine. An additional test with glucose oxidase must also be carried out (with a negative result indicating essential fructosuria) as a positive test for reducing sugars is most often a result of glucosuria secondary to diabetes mellitus. The excretion of fructose in the urine is not constant, it depends largely on dietary intake. Treatment
No treatment is indicated for essential fructosuria, while the degree of fructosuria depends on the dietary fructose intake, it does not have any clinical manifestations. The amount of fructose routinely lost in urine is quite small. Other errors in fructose metabolism have greater clinical significance.