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HENRY'S RARE CONDITION - MENKES DISEASE
Henry was born on February 3, 2002. He was about 3 weeks early and seemingly healthy. At approximately 4 months of age, Henry had a prolonged seizure, which lasted about 15 minutes. Over the period of a week, Henry had an MRI, 2 EEGs, a spinal tap, about 15 blood tests and a myriad of other tests to try and narrow down the cause of the seizure. It was a Neurologist at the Children's Hospital of Philadelphia (CHOP) who identified the cause as Menkes Disease, a diagnosis that was confirmed through the Genetics Department at CHOP.
Menkes' Disease is a rare inborn error of metabolism that begins before birth. Copper accumulates in excessive amounts in the liver, and is deficient in most other tissues of the body. Structural changes occur in the hair, brain, bones, liver and arteries. As a result, children with Menkes usually have profound hypotonia with poor head control (i.e. they are quite floppy). Body temperature is generally low and erratic.
Menkes is a genetic mutation that is either passed from the mother to the child or is a new mutation at the time of conception. Menkes' Disease almost exclusively affects males. Mother's carrying the Menkes gene have a 1 in 4 chance during every pregnancy to pass it to their children, 1 in 2 chance if the infant is a boy. Menkes is not higher in one race vs. another or one place in the world vs. another.
The Syndrome presents itself early in life. Generally, as in Henry's case, the infant will be born a few weeks early, they will usually have to be treated for jaundice, hair will be brittle and look kinky, motor delays begin at approximately 3 months, seizures will begin at approximately 4 months. Infants generally will have close to normal growth and just experience slight delays in reaching milestones like sitting up, crawling, etc. At some point a child with Menkes begins to deteriorate very rapidly, resulting in death.
The exact location and subsequent mutation of the gene that causes Menkes was only identified in the early 90's. Research into the biology behind the transportation of copper in cells and the treatments for Menkes are still very young. There have been some studies surrounding early treatment with intravenous or oral copper supplements which may be of some benefit. Other treatments are only symptomatic and supportive.
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