Costello Syndrome

Basically a genetic disorder, the Costello syndrome leads to the delayed development of body systems in children. The occurrence of the disease is rare and very few develop the Costello syndrome. Along with the delayed development, mental retardation, development of loose folds of skin and unusual flexibility in joints of the limbs are characteristic to the syndrome. The related symptoms of the Costello syndrome are the heart problems such as rapid heartbeat, overgrowth of heart tissues and certain defects in its structural development. The phenomenon of overgrowth of heart tissues and rapid heartbeat are termed as hypertrophic cardiomyopathy and tachycardia.

Signs and Symptoms
The children who suffer from Costello syndrome, are susceptible to the development of different types of tumors, that may be both cancerous as well as noncancerous. The noncancerous tumors are known as papillomas. The development of these tumors occur on the face, near the nose and mouth. The areas near the anus too show such kind of tumors. The skin of hands and feet become loose and dark in complexion.

Rhabdomyosarcoma, a cancer of the connective tissue, is seen among patients afflicted by the Costello syndrome. A tumor of nerve cells, is found in children as a result of the syndrome is known as neuroblastoma. A cancer of the bladder, called transitional cell carcinoma, also develops in children due to the syndrome.

The reduction of growth hormones retards the growth among children, which affects their stature. There is a chance that the symptoms of patients suffering from Costello syndrome might be confused with that of the Noonan and/or Cardiofaciocutaneous syndrome. The symptoms of these diseases are similar to those of the Costello syndrome.

Causes
The Costello syndrome is caused by the mutation of the HRAS gene. These mutations lead to the synthesis of a protein called H-ras. The body starts the production of cells without any kind of external signal. The H-ras protein induces an uncontrolled growth of cells which leads to the development of tumors that may be malignant or benign.

Diagnosis
In most cases, it is possible to diagnose the patient on the basis of the morphological symptoms. The affected child might have problems gaining weight and in feeding. The overall growth of the child is affected.

Treatment
There is no cure available for the syndrome. However, a cancer drug, Farnesyltransferase inhibitor is helpful in keeping a check on the action of the H-ras protein. Lovastatin is also a medicine known to affect the working of the H-ras protein. MEK inhibitor can also be used to treat the syndrome. The chemical closes the pathway near the nucleus.

The treatments available for Costello syndrome today, focus on the various disorders and symptoms related to the syndrome. The patient is treated with different therapies that are physical as well as occupational. It helps the development of the body in a proper manner and helps reach full potential. The changes in levels of blood pressure, tumor growth and various orthopedic problems are monitored on a long-term basis.

The treatment of the Costello syndrome involves many complications and risks. The number of children suffering from the syndrome is very less. This is a problem for testing medicines developed for the treatment. Attempts are being made to use animal models for testing. At least for now, the treatment is used for the control and not to cure the syndrome.