Smell is a highly differentiated remote sensation, which has a great importance for the qualtty of our daily lives - emotional and social relations, compliance with personal hygiene norms, enjoyment of the environment, etc. Anosmia is a complete loss of smell (for all or certain scents) due to various causes - mechanical, acute viral infection, nose or head trauma and other less common causes. Genetical olfactory disorder is diagnosed for approximately only 4-6% people. The most common cause is the Kallmann syndrome. Kallmann syndrome is a rare disorder characterized as congenital hypogonadotropic hypogonadism, accompanied by olfactory bulb aplasia or impaired cytotoxic signal transmission. Genetic anosmia is difficult to detect due to the wide variety of genetic mutations that determine the development of the disorder, but in the early diagnosis of the disorder, treatment is meaningful and effective, and the possibility of complication prevention is ensured.
The aim of the present work was to review the most common causes of genetic olfactory dysfunction, present the situation in Lithuania and the clinical case of anosmia in the VU Children’s Hospital. Use of working methods - search for relevant literature has been done in PubMed, Medscape, Cochrane Library in medical databases and specialized Google Scholar information search and a clinical case description from VU Children’s Hospital. Attention is drawn to the complex inheritance of Kallmann syndrome as well as a wide range of possible genetic changes, non-specific clinical features that often complicate diagnosis of olfactory disturbances.
