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https://doi.org/10.14300/mnnc.2019.14065

Early diagnosis of a rare hereditary disease – syndrome pain insensitivity. Clinical case

[Notes from practice]
Oleg Agranovich; Andrey Agranovich; Elena Loboda; Mariam Hapaeva;

The described case rather rare inherited autosomal recessivnoe disease due to a violation sensitivity of pain receptors. Supporting clinical signs: congenital insensitivity to pain, impaired thermoregulation, ambiguous Genesis, fever, anhidrosis, mental retardation, self-harm, lack of reaction to sweat heat, pain, emotional, or chemical stimuli. Pain insensitivity syndrome with angidrozom usually are diagnosed late. This leads to high mortality of patients (up to 20 %) related to dangerous overheating of the body in viral infections and ostrovospalitel’nyh processes, which often happens during the first three years of a child’s life. the lack of pain reflexes significantly increases the likelihood of injury.

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Keywords: hereditary diseases, pain insensitivity syndrome, early diagnosis