Borosch-Koranyi syndrome (according to other sources: Borosch syndrome or Kornshchein syndrome), often referred to as “Lefler syndrome”, is a genetic disease characterized by metabolic disorders, skin lesions and dysfunction of the respiratory system, leading to death or disability, manifesting itself soon after birth.
The vast majority of cases of SS occur among boys. SS was first described in Hungary in 1942 by J. Boros and A.S. Koranyi and named after these two doctors. The symptoms of this condition are varied. It is usually associated with developmental defects and metabolic disturbances in sick children. With Lefleur syndrome, symptoms can range from mild to severe, making it difficult to assess and draw a conclusion about the presence of the disease in a child.
The first sign of pathology is the disappearance of the baby’s voice. Instead, when inhaling, a whistling sound appears, and therefore the child experiences difficulty eating and speaking. Over time, the symptom progresses, depriving the patient of the ability to speak independently. Due to lack of breathing during speech, facial expressions lose their functionality. At the same time, the child stops smiling, laughing and showing emotions in any other way. Also, the severity of symptoms is related to the number of pulmonary pathologies in the patient. The more diseases, the worse the patient’s condition, the stronger the symptoms of the disease. Other pathologies related to the symptoms of Boroshi-Koranya syndrome include: 1. Chronic renal failure; 2. Glucose intolerance; 3. Heart rhythm disturbances; 4. Rapid weight loss; 5. Hypotension; 6. Diabetes.