Graefe's syndrome (Grefe-Usher's syndrome) is a pigmented dystrophy, combined with hearing loss of varying severity, up to complete deafness. The name of the symptom is explained by the fact that Grefe 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 gradually increasing ophthalmoplegia, which, progressing, can lead to absolute immobility of the eyeball and total ptosis. In almost half of the patients, to be more precise, in forty percent, the symptoms are combined with pigmentary dystrophy. It should also be said about severe degenerative changes affecting the central nervous system.
Grefe's symptom is a disease that most affects children born not by natural means, but by caesarean section. This disease is also called "setting sun syndrome". Why does she have such a name? This is due to the appearance of the sick person: 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 symptoms appear at thethe time when the child changes position, that is, there is a chance that the disease will go away on its own after a while. If this happens constantly, 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 even one specialist, but several at once, in order to describe the most complete picture. You should go to a neurologist.
Hearing about this disease from a doctor, you should not put an end to the child. It’s also not worth skipping the diagnosis “by the ears”, because Graefe’s symptom must be treated, like any other disease. The sooner the disease is detected, the better, because in the earlier stages, sparing treatment can be dispensed with. But if you delay, you will need an intensive course.
Sometimes the disease goes away on its own. With age, the nervous system finally matures, and the syndrome disappears. In any case, you need to consult with a specialist who will prescribe all the necessary tests, including ultrasound of the brain. Only after passing the tests it will 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 your 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 becourse of treatment - at home or in a hospital. Intracranial pressure is a very serious matter, but remember that Graefe's symptom is a guarantee of its presence.
Gref's symptom, photo:
Your baby is the most precious thing you have, so be vigilant. Of course, you should not panic for no apparent reason, but if in doubt, consult a neurologist.
