Brugsch syndrome is a rare congenital disease characterized by an increase in the size of the skull, disruption of the structure of the facial bones and absence of teeth. This disease is hereditary in nature and was first described at the end of the 19th century by the German physician Brugsch.
The first signs of Brugsch syndrome may appear in infancy: an enlarged skull, a thickened and disproportionate jaw, missing teeth and changes in bone structure. Over time, the symptoms intensify and the child may have difficulty walking due to an increase in the weight of the head, headaches, disturbances in the functioning of the nervous system, as well as a lag behind peers in mental development.
One of the methods for diagnosing Brugsch syndrome is radiography of the face and skeleton, which can reveal changes in the size and structure of bone tissue. Magnetic resonance imaging, computed tomography or ultrasound can also be used for diagnosis.
Brugsch syndrome is treated by dentists, pediatric surgeons, pediatricians and geneticists. With early detection of the disease and adequate treatment, significant improvements in the child’s health are possible. Treatment may include surgical methods to correct bone and jaw deformities, and treatment of problems with the functioning of internal organs and the nervous system. Dietary therapy plays an important role, including proper fitting of jaw braces and the use of special dentures to care for the teeth and reduce crowding.
The prognosis for Brugsch syndrome remains difficult, and the quality of life of such a child depends significantly on the severity of the disease. Early detection and comprehensive treatment can reduce the impact of the disease on the health and development of the child.