Graefe's Disease

Graefe disease, or Graefe-Jadassohn syndrome, is a rare hereditary disease associated with impaired interneuron transmission, detected in children aged 2 to 8 years. According to various sources, the frequency of this pathology can vary between 7-20 cases per million newborns. Parents of patients are usually representatives of the Negroid race. Often genetically associated with glaucoma and some intellectual disabilities. Scientists have long suspected that the disease is similar to familial malabsorption syndrome: often associated with bilateral hydrosystrophic dilation of the aorta. It was first described in 1949 by German ophthalmologist Ferdinand Graefe, who examined eye lesions in a 3-year-old boy. Later, many specialists studied this pathology, finding a connection between these lesions and a decrease in cognitive functions, insufficient ossification of the skull bones and mental disorders. It has now been proven that in addition to autism and developmental delay, this uncontrolled degradation of brain cells is also associated with difficulties in the functioning of the cardiovascular system. Also, the disease can often be accompanied by hair loss, signs of cerebral palsy, encephalitis, pharyngeal spasm, scoliosis, bradycardia and arrhythmia. We tried to find out whether this rare pathology is worth studying in isolation, or whether it has every chance of being akin to many other hereditary diseases known today - those that have yet to be discovered by studying disease statistics. So far, no such cases have been described. Fortunately, with timely diagnosis, the patient can be saved and even given the opportunity to live a full life.