Debre-Fibiger Syndrome

History of Debre-Fiebiger syndrome

In 1938, Joseph Alberto Gauze, a Panamanian physician, and Evgeniy Kolbogin, a New Zealand pediatrician, drew attention to a new symptom at that time, manifested by chronic morning rhinorrhea, sneezing, runny nose, cough, feeling of a lump in the throat, redness of the eyes, irritability, disturbance of night sleep, as well as recurrent febrile fever. During the research, they were able to identify the etiological connection of these symptoms with the pathology of mucus

Debre-Fibiger syndrome: understanding and characteristics of a rare disease

Debre-Fiebiger syndrome, also known as hypothyroid retardation syndrome, is a rare genetic disorder that affects the development and functioning of the thyroid gland. This neurological disorder usually appears in early childhood and may be accompanied by delayed psychomotor development and other characteristic signs.

The history and name of the syndrome are associated with two outstanding scientists: Andre Robert Debre (A.R. Debre) and Jacob August Georg Fibiger (J.A.G. Fibiger). André Robert Debré was a French pediatrician born in 1882 who made significant contributions to the study of childhood diseases. Jacob Fibiger, a Danish pathologist, lived from 1867 to 1928 and also played an important role in understanding this disease.

The primary mechanism of Debre-Fiebiger syndrome is dysfunction of the thyroid gland, which is responsible for producing and regulating thyroid hormones, including thyroxine (T4) and triiodothyronine (T3). These hormones are essential for normal growth, metabolic processes and neurological development. In Debreu-Fibiger syndrome, the thyroid gland may be underactive or completely absent, leading to problems with the development of the brain and nervous system.

The main clinical manifestations of Debreu-Fibiger syndrome are delayed psychomotor development and mental retardation. Children with this syndrome usually begin to show developmental delays in the first years of life. They may have learning difficulties, problems with speech and motor coordination. In addition, patients with Debre-Fiebiger syndrome often have physical characteristics such as short stature, a wide nose, and delayed bone growth.

Debre-Fiebiger syndrome is a genetic disease that is inherited. It is usually associated with a mutation in the gene responsible for the development of the thyroid gland. There are several forms of this syndrome, including a parentally inherited form and a sporadic form that occurs randomly.

Diagnosis of Debreu-Fibiger syndrome involves clinical tests, blood tests to determine thyroid hormone levels, and genetic tests to identify mutations associated with the syndrome. Early diagnosis plays an important role in managing this condition and providing suitable treatment.

Treatment of Debre-Fibiger syndrome is aimed at compensating for the lack of thyroid hormones. Thyroxine (T4) replacement therapy is usually prescribed to ensure normal hormone levels in the body. Regular medical examinations and monitoring of hormone levels help monitor the patient's condition and adjust the dosage of medications if necessary.

In addition to replacement therapy, patients with Debreu-Fibiger syndrome may require multispecialty medical support. Early intervention and rehabilitation activities such as physical therapy, occupational therapy, and speech therapy can help develop skills and improve the quality of life of children with this syndrome.

Although Debre-Fibiger syndrome is a chronic condition, with early diagnosis, proper treatment and regular medical follow-up, most patients can achieve improvement in their development and functioning.

In conclusion, Debre-Fibiger syndrome is a rare genetic disorder characterized by thyroid dysfunction and psychomotor developmental delay. Early diagnosis, appropriate treatment and multi-specialty medical support play an important role in managing this condition and helping children with Debreu-Fibiger syndrome achieve their best potential in their development and quality of life.