Rare genetic Allgrove syndrome in the practice of a pediatric endocrinologist

Abstract Diagnostics of orphan diseases is often associated with certain difficulties. Allgrove syndrome (Alacrimia, Achalasia, Adrenalinsufficiency, AAAS), the "three A" syndrome, is a rare autosomal recessive multisystem disease characterized by chronic adrenal insufficiency, alacrimia and achalasia of the cardia. The prevalence of the pathology in question is less than 1 case per 1 000 000, no more than 100 cases have been described in the literature since its publication in 1978 [1]. The clinical picture of this syndrome is diverse, symptoms, their severity, and the sequence of manifestation vary with age, and therefore treatment tactics are selected individually when making a diagnosis. The article presents a clinical case of a patient who was diagnosed with Allgrove syndrome at the age of 10. The clinical picture is represented by adrenal insufficiency, delayed neuropsychic development, convulsive syndrome, alacrimia, achalasia of the esophagus with the phenomena of "nervous" esophagus, as well as a number of additional signs – vulgar ichthyosis, congenital heart defect: defect of the interventricular septum, patent oval window. Given the rarity and high phenotypic heterogeneity of this pathology, the diagnosis was delayed. A number of primary and concomitant conditions contributed to the involvement of specialists of different profiles in therapeutic tactics, and also determined the need for long-term dispensary observation.