This is a disorder characterized by the sparse, kinky hair, failure to thrive, failure to gain weight and the problem of the nervous system. The symptoms of this condition typically can occur during infancy and in rare cases, it can begin later in childhood. This syndrome develops as the result of a problem with the copper level in the body that is commonly detected prenatally. Copper is essential to various cells for the structure and the function of enzymes that are responsible for controlling the development of the brain, hair, liver, bones and the arteries. The occipital horn syndrome is considered to be the less severe form of this syndrome that can affect the early or middle childhood. The prognosis of the affected children appears to be poor as death can occur within the first decade of their life.
Causes
This syndrome develops as the result of the mutation in the gene identified as ATP7A which produces the protein essential for the regulation of copper levels in the body. The genetic mutation results in the abnormal distribution of copper in various cells of the body and the excessive quantity can be toxic. Among the individuals with this condition, it accumulates in various tissues such as the kidneys and small intestines while other parts of the body such as the brain and other tissues present the decreased level of copper. The low level of copper in various parts of the body can affect the normal function of copper containing enzymes important for the structure and the function of the hair, bone, skin and the nervous system. The symptoms associated with this syndrome develop as the result of reduced activity of the copper-containing enzymes. This condition is inherited in an X-linked recessive pattern meaning the gene responsible for developing this syndrome is located on the X chromosome which is one of the sex chromosomes. As males only have one X chromosome, a single altered copy of the defective gene can cause this disorder.
Symptoms
The symptoms can vary from mild to severe depending on the case. The symptoms associated with this condition can develop at 2 – 3 months of age and include kinky hair that is short, coarse, twisted which may be grey in color. Other symptoms can include weak muscles, failure to thrive, failure to meet developmental milestones, irritability, seizures, low body temperature, feeding difficulties, frequent urinary tract infections, weak or brittles bones, pale skin and respiratory difficulties.
Diagnosis
The diagnosis of this syndrome is possible by measuring the low quantity of copper and ceruloplasmin in the blood plasma. The molecular genetic testing of the mutation can confirm the diagnosis. If the condition is prevalent in the family, the carrier testing and prenatal diagnosis options are available to detect the genetic mutation that causes the disease.
Treatment
There is no cure for this condition but treatments are focused toward the symptoms evident. The copper replacements can be delivered intramuscularly or intravenously with varying results. Among the affected cases, the earlier the treatment is initiated, the more positive the outcome of the results.
References
http://themenkesfoundation.org/research/overview.html
https://rarediseases.org/rare-diseases/menkes-disease/
https://ghr.nlm.nih.gov/condition/menkes-syndrome#inheritance