ECP 2022 Abstract Book

Virchows Archiv (2022) 481 (Suppl 1):S1–S364 13 Methods: In a retrospective study of 1000 protocols of patho- anatomical examination of a child’s profile, we identified 3 cases of generalized infantile arterial calcification: 2 in newborns, 1 - first detected at the age of 1.5 years. Histological examination of the internal organs of the child after additional decalcification was performed by staining for hema- toxylin-eosin, according to Van Gieson and Kason. Results: A widespread mediacalcinosis of the internal elastic membrane and the muscular layer of the arteries of the elas- tic and muscular-elastic type was revealed, with the outcome in stenosing atherosclerosis of the vessels of the heart, kidneys, lungs, spleen, adrenal glands, pancreas, intestines, mesentery, thymus, extremities, calcification of the aorta and pulmonary trunk. In the myocardium, a picture of focal hypertrophy and fragmentation of contractile cardiomyocytes of both ventricles of the heart, diffuse small-focal transmural and subendocardial cardiosclerosis with damage to the rhythmogenic zones of the heart and vegetative ganglia of the heart with their hypogangli- onism was found; transmural and subendocardial infarcts in the heart of various degrees of prescription. Conclusion: Molecular genetic study revealed a mutation c.1298A>T in the homozygous state in the ENPP1 gene. The combination of generalized infantile arterial calcification with early manifestations of atherosclerosis of the aorta and large vessels is an extremely unfavourable prognosis for patients, and in 85% of cases ends in death. E-PS-20-018 The rare case of pathomorphological study of the acardiac monster from monozygotic twins O. Sudareva*, E. Ignatyeva, S. Lezhenina, E. Guryanova *Chuvash State University by I.N.Ulianov, Russia Background & objectives: Reverse arterial perfusion syndrome (ROAP, TRAP) or acardial twinning occurs in 0.3–1% of monozy- gotic twins and in about 1 in 35,000 births. Acardiac twins or a double reverse arterial perfusion (TRAP) sequence is rare but serious. Methods: 26,783 protocols of pathomorphological examination of placentas for the period from 2015 to 2020 from women who gave birth in the Chuvash Republic were retrospectively evaluated. A case of own pathoanatomical study of an acardiac monster is described, including the stage of autopsy with an assessment of organometric parameters, histological and immunohistochemical examination of its internal organs. Results: During the study period, there was an increase in multiple pregnancies, of which the number of monochorionic pregnancies increased from 11 cases to 24 cases, bichorionic - from 42 (in 2016) to 77 (in 2020) cases. The number of artery-vein, vein- vein vascular anastomoses in the monochorionic placental disc increased - 3 cases (in 2016), 4 cases (in 2017), 8 cases (in 2018) and 10 cases (in 2020). ). The frequency of occurrence of foetus amorphous acardious was 1:6779 (in 2016) and 1:6759 (in 2020), in the remaining years the SMAP syndrome was not detected. Conclusion: Based on the anamnesis, the results of a pathoana- tomical examination of the placenta and an abnormal product of conception, a pathoanatomical diagnosis was formulated: Acardia monster (acardius amorphus) - acardia, anencephaly, anophthalmia, atresia of the oral fissure, aprosopia (facial bones are missing), aplasia of the ribs, bones of the upper limbs, sternum, aplasia of the pelvic bones, failed I period of intestinal rotation, atresia of the large intestine, and anal canal ; absence of pancreas, liver; aplasia of the trachea, lungs. E-PS-20-020 A rare lysosomal storage disease: galactosialidosis D. Sá*, U. Ramos, F.S. Vieira, J.R. Vizcaíno *Centro Hospitalar Universitário do Porto, Portugal Background & objectives: Galactosialidosis is an autosomal recessive disease caused by a defect in protective protein/cathepsin A (PPCA) that results in a deficiency of the lysosomal enzymes beta-galactosidase and alpha-neuraminidase. PPCA is an intralysosomal protein which protects these enzymes from premature proteolytic processing. Methods: We herein present the case of a female new-born and her 20-year-old mother. At the 24th week of gestation, on a routine sec- ond trimester ultrasound, hydrops fetalis was detected. The mother was hospitalized to further study the cause of the hydrops and was submitted to an amniocentesis. At the 30th week of gestation, the new-born was delivered by elective C-section. Results: The baby was born with an Apgar score of 6/7/8 and 1700 grams. We received a large and heavy placenta with a weight of 505 grams (above the 95th percentile) and measuring 17,5 x 14 x 4 cm, showing only a green discoloration of the foetal surface and membranes. Histologic examination showed enlarged pale villi with striking cytoplasm vacuolization of the syncytiotrophoblast and of the villous stromal cells. PAS, PASd and Alcian Blue stains were all negative in the vacuoles. Immune and infectious causes for the hydrops were excluded and an array comparative genomic hybridization of the amniotic fluid revealed a homozygous muta- tion in the cathepsin A (CTSA) gene. Conclusion: The early infantile phenotype of Galactosialidosis usually presents prenatally or within the first 3 months of life with hydrops fetalis, cherry red spots, visceromegaly, psychomotor delay, coarse facies, skeletal dysplasia, and early death in the first few years of life. Although the placenta is often enlarged or hydropic, vacuolisation or inclusions are not always evident. A thorough examination of the pla- centa is therefore warranted. The now infant is still alive although with many complications of the disease. E-PS-20-021 An integrated approach to the diagnosis of pancreatic islet cell hyperplasia in a newborn (sectional case) O. Sudareva*, E. Ignatyeva, S. Lezhenina, E. Guryanova *Chuvash State University by I.N.Ulianov, Russia Background & objectives: Purpose of the study: to describe a rare case of pancreatic lesions in a newborn and to demonstrate a multi- stage approach in making a pathoanatomical diagnosis. Methods: A sectional case of pathoanatomical autopsy of a new- born with congenital pancreatic pathology was studied, including the stage of autopsy with an assessment of organometric and mor- phometric parameters, microscopic and histochemical, immunohis- tochemical studies of internal organs and placenta with additional staining of PAS-reaction. A post-mortem biochemical study of the child’s blood for the content of glycohemoglobin, acetone and glu- cose was carried out. Results: A pathoanatomical examination of the corpse of a new- born girl at the age of 16 days, born at 39-40 weeks. Histologically, there are 8 to 14 islets of Langerhans in each pancreas lobule; hyperplasia of PAS-positive cells, mitoses were not found in them; periductal interstitial inflammation; transformation of the ductal epithelium into pancreatic β-cells. When staining the pancreas using chromogranin A, a pronounced expression of the glycopro- tein in neuroendocrine cells is revealed. In the biochemical study of cadaveric blood samples by the columnless ion-exchange method, the content of glycosylated hemoglobin was 1.1%; determination S327