Grefe syndrome (Grefe-Usher syndrome) is a pigmentary dystrophy, combined with hearing loss of varying severity, up to complete deafness. The name of the symptom is due to the fact that Gref first described it, and then Usher. Hence the double name of the disease.
The disease can be inherited recessively (frequency 43.5%).
The disease is expressed in a gradually increasing ophthalmoplegia, which, progressing, can lead to absolute immobility of the
eyeball and total ptosis. In almost half of the patients, more precisely, in forty percent, the symptoms are combined with pigmented dystrophy. It should also be said about severe degenerative changes concerning the
central nervous system.Gref's symptom is a disease that affects children most of all, who were born not by natural means, but by Caesarean section. This disease is also called the setting sun syndrome. Why does she have such a name? This is due to the appearance of the diseased: the child lowers his eyes, and the upper eyelid at this time begins to exfoliate.
What are the causes of this rather unpleasant disease?
It should be noted that if the symptoms appear at a time when the child changes position, then there is a chance that the disease will go away on its own after a while. If this happens all the time, then you need to urgently consult a doctor. This can be explained by the fact that the first case is caused by the immaturity of the nervous system, and the second - by an increase in intracranial pressure.
If you suddenly notice the symptoms of this disease, it is better to contact not only one specialist, but several at once to describe the most complete picture. You should go to the neurologist.
Having heard about this disease from a doctor, you should not put an end to the child. Skipping a diagnosis "by the ears" is also not worth it, because Gref’s symptom needs to be treated like any other disease. The sooner the disease is detected, the better, because in the earlier stages you can get by with gentle treatment. But if you delay, then you will need an intensive course.
Sometimes the disease goes away on its own. With age, the nervous system finally ripens, and the syndrome disappears. In any case, you need to consult with a specialist who will prescribe all the necessary tests, including an ultrasound of the brain. Only after passing the tests will it be possible to draw conclusions about the nature of the ongoing process and determine the prognosis and treatment, if necessary.
It is important to note that in no case should you interrupt the course of treatment prescribed by a doctor if you notice the slightest results. This is only the beginning, not the end result, it is necessary to bring everything to the end.
The specialist will determine how the patient should undergo treatment - at home or in the hospital. Intracranial pressure is a very serious matter, but remember that a symptom of Gref is a guarantee of its presence.
Symptom Gref, photo:
Your baby is the most precious thing you have, so be careful. Of course, you should not panic for no apparent reason, but if in doubt, consult a neurologist.