Horner syndrome, another problem associated with the sympathetic nervous system, is often seen in conjunction with harlequin syndrome.Since Harlequin syndrome is associated with a dysfunction in the autonomic nervous system, main symptoms of this dysfunction are in the following: Absence of sweat(anhidrosis) and flushing on one side of the face, neck, or upper thoracic area. In addition, other symptoms include cluster headaches, tearing of the eyes, nasal discharge, abnormal contraction of the pupils, weakness in neck muscles, and drooping of one side of the upper eyelid. Causes
One possible cause of Harlequin syndrome is a lesion to the preganglionic or postganglionic cervical sympathetic fibers and parasympathetic neurons of the ciliary ganglion. It is also believed that torsion (twisting) of the thoracic spine can cause blockage of the anterior radicular artery leading to Harlequin syndrome. The sympathetic deficit on the denervated side causes the flushing of the opposite side to appear more pronounced. It is unclear whether or not the response of the undamaged side was normal or excessive, but it is believed that it could be a result of the body attempting to compensate for the damaged side and maintain homeostasis.Since the cause and mechanism of Harlequin syndrome is still unknown, there is no way to prevent this syndrome. Mechanism
Although the exact mechanism for Harlequin syndrome is still unclear, understanding what is affected with this syndrome is important. The majority of cases are thought to occur when nerve bundles in the head and neck are injured.
Because the defective genes involved in certain forms of ML are known, tests can identify people who are carriers in some instances. Diagnosis
The diagnosis of ML is based on clinical symptoms, a complete medical history, and certain laboratory tests. Symptoms of the disease are usually present at birth or begin in early childhood. Early symptoms can include skeletal abnormalities, vision problems, and developmental delays. Poor mental capacities, and difficulty reaching physical developmental milestones may also be result of mucolipidosis. Treatment
There is currently no known treatment or specific therapy to cure this disease. However, there are multiple therapy techniques that can be used to help with some of the symptoms. Speech therapy and physical therapy may aid in a diagnosed childs motor and speech delays. Nutritional supplements such as iron and vitamin B12 may also be required if the patient needs them. See also
Medical genetics of Ashkenazi Jews
mucolipidoses at NINDS

References


== External links ==