Alpers Syndrome

Alpers syndrome

Alpers-Klippel syndrome (AKS) is a rare genetic disease from the group of hereditary diffuse dysostoses with a very diverse clinical picture from severe forms without signs of intellectual development to mild, practically uncomplicated forms. The only manifestation of the syndrome may be mental retardation with normal physical development. Patients with AKS have a typical appearance: short stature, high hairline (“craniofacial type”), webbing between the toes and hands (“keeled toes”). Many patients have cardiac anomalies, subcutaneous xanthelasma ("xanthelasma" - the presence of yellowish-brown plaques or nodules on the skin, with the exception of the plantar surface), etc. Since there is no specific treatment or replacement therapy, attempts at prevention are extremely difficult.

AKC occupies a prominent place among hereditarily determined anthropometric dysmorphias. Its occurrence is based on a mutation in the LMNA gene, located on chromosome 1-19.

Pathomorphological examination reveals moderate signs of dysostosis, arteriovenous anomalies of the vessels of internal organs and polyneuritic changes. A feature of AKS is the lack of common structural changes on the part of the organs, which corresponds to the absence of the main linkage group (group heterogeneity). Thus, in the presence of general pathological phenomena, intersystem diversity is mainly determined by many clinical manifestations (complications, localization of fibrous tissue, increased organ function) caused by multiple chromosomal mutations. Such ratios are explained by the presence of different classes of karyotypes (46,XX, 46,XY, mosaic structures), the morphology and number of which in patients with ACS significantly exceeds those in healthy people.

Unfortunately, the use of conventional diagnostic methods is limited by the lack of specific symptoms, as well as the variability of clinical manifestations of the disease. Most methods are functionally interrelated, and their results can be extremely disparate. Therefore, a significant number of patients with ACS are simply phenotypic abnormalities with no complaints. Pathognomonic (characteristic only for this disease) signs include the presence of a “polyostotic triad”, fibroma of the soft tissues of the orbit, “keel”-sternum, coarse hair lines on the forehead, swelling of the face and neck, subcutaneous hemosinus of the feet caused by embolization of small blood vessels.