ECP 2023 Abstracts

S333 Virchows Archiv (2023) 483 (Suppl 1):S1–S391 13 Results: Pathological evaluation confirmed a three-layered, non-atyp- ical, 35 x 34 mm sized vesico-urachal diverticulum, with a narrow (5 mm) opening. The inner layer was lined with urothelial epithelium, the middle layer composed of connective tissue including intense chronic inflammation, and the outer muscular layer in continuity with the det- rusor muscle. There were no dysplastic enteric or mucinous (signet ring type) cells inside connective tissue or muscular layer. Bladder diverticula on the other hand, are protrusions of the bladder urothelium and mucosa via muscle fibres of the muscularis propria; which results in a thin-walled structure connected to the bladder lumen and poorly empties during micturition. Conclusion: Case reports advocate surgical intervention as the optimal treatment in patients with vesico-urachal diverticulum manifesting as acute abdominal pain, containing calculus or colic-urachal fistulas, and spontaneous rupture, since urachal anomalies usually do not disappear spontaneously. Timely differential diagnosis in such cases is important, since dysplastic forms as primary urachal carcinoma require early opti- mal management. E-PS-19-017 Exceptional association of chromosomal abnormalities: trisomy 15 associated with X triploidy I. Mallek*, Y. Elaribi, L. Jaidane, H. Abassi, A. Lahmar, S. Hizem, L. Ben Jemaa, H. Jilani, D. Bacha, S. Ben Slama *Monji Slim La Marsa, Tunisia Background & objectives: Trisomy 15 is a rare and its association with X triploidy is exceptional. The definitive diagnosis is made according karyotyping resultats. Foetopathological examination con- firms morphological anomalies. The aim of this report was to describe an extremely rare chromosomal abnormalities association. Methods: We report a case of a 29-week-old foetus with trisomy 15 associated with X triploidy. Results: A morphological ultrasound of a 41-year-old woman, revealed severe and harmonious growth retardation, agenesis of the nasal bones, and clenched hands. Amniocentesis was performed at 26 weeks of ges- tation and FISH analysis revealed X triploidy. Karyotyping confirmed the X triploidy and revealed also trisomy 15. Therapeutic termination of pregnancy was performed at 29 weeks of gestation. Foetopatho- logical examination showed a female foetus (23-24 weeks of gesta- tion). Malformations included facial dysmorphia with a long neck, a flat forehead, a slightly flared nose, hypertelorism, and retrognathism. The limbs were elongated with clenched hands and thorax was bulg- ing. On organ dissection, no visceral anomalies or brain abnormalities were found. Conclusion: The cases of trisomy 15 described in the literature are relatively rare. A few were viable at birth. However, skeletal and car- diac malformations, as well as obesity and its metabolic complications put the functional and vital prognosis at stake. Most of these patients rarely reach adolescence. Currently medical progress can extend their life expectancy. But the mental deficiency is constant. E-PS-19-018 Foetal vascular malperfusion and I-cell disease – a report of 3 cases S. McGrath*, E. Mooney *National Maternity Hospital, Ireland Background & objectives: I-cell disease (Mucolipidosis type II) is a lysosomal storage disorder. Vacuolated placental trophoblasts in I-cell disease are well described. We noted foetal vascular malperfusion in a placenta with I-cell disease and reviewed other cases to examine this association. Methods: We reviewed placental pathology at a single site to identify all cases in which features of I-cell disease were seen histologically, and a diagnosis of I-cell disease was made in the neonate. This search yielded three suitable cases for review. Results: All three cases demonstrated classic trophoblast vacuolation, and in one of these cases, the placental findings prompted the neo- natal diagnosis. In the preterm case, approximately 30% of the villi were normal in appearance. High grade foetal vascular malperfusion was present in all 3 cases, assessed using the Amsterdam Criteria. No cause of foetal vascular malperfusion was inferred from the cord in any of these cases. Cords were normal or hypocoiled, with central or paracentral insertion. Stem vessel narrowing was seen in all 3 cases. Conclusion: These cases suggest an association between foetal vas- cular malperfusion and I-cell disease, which has not been previously described. Cardiovascular disease is a well-recognised feature of I-cell disease, and the finding of foetal vascular malperfusion may presage the identification of cardiovascular abnormalities. E-PS-19-019 Сases of infantile form of marble disease in the territory of Chuvashia V. Mironov*, E. Ignatyeva, S. Lezhenina, E. Guryanova, E. Makarova, E. Sapozhnikova, A. Grigoryeva *Chuvash State University by I.N.Ulianov, Russia Background & objectives: The paper presents autopsy data on cases of infantile osteopetrosis, caused by a genetic mutation and having specific pathomorphological manifestations. In a retrospective study of 729 pathoanatomical protocols of children’s autopsies, we identified 11 cases of the infantile form. Methods: In a retrospective study of 729 pathoanatomical autopsy protocols for children, 11 cases were identified, of which in 7 cases the diagnosis of marble disease, the infantile form was genetically con- firmed. Repeated histological examination of children’s organs was performed as follows: bone marrow after additional decalcification was stained according to Romanovsky Giemsa; internal organs by staining with hematoxylin-eosin and Kason. Results: In most cases, craniostenosis, secondary external non-occlu- sive hydrocephalus prevailed; atrophy of the optic nerves; flask-shaped thickening of both ends of the ribs, and distal femurs; the medullary canal of the proximal epiphysis of the tibia was not observed in 3 cases, it was completely filled with bone tissue and calcifications; in the bone marrow of the sternum and thigh, there was a decrease in cellular- ity with a predominance of the reduction of the megacarocyte germ; widespread foci of extramedullary haematopoiesis in the liver; multiple stigmas of dysembryogenesis. In 95% of lethal cases, pulmonary hypo- plasia with focal pneumosclerosis was also noted; in all cases, there were manifestations of a secondary immunodeficiency. Conclusion: The fatal complication in all cases was secondary bron- chopneumonia and leukomalacia. In all cases with intravital molecular genetic testing, a mutation was detected - с.807+5g>a in the TCIRG1 gene in a heterozygous state, encoding an osteoclast-specific α3 iso- form of one of the subunits of the transmembrane vacuolar ATP- dependent proton pump. An extremely unfavourable combination of this pathology is the underdevelopment of the lung parenchyma with foci of pneumosclerosis. E-PS-19-020 Sectional observation of a child with a rare case of chromosomal pathology: mosaic variant of trisomy 8 pairs of chromosomes V. Mironov*, E. Ignatyeva, S. Lezhenina, E. Guryanova, A. Polko- vnikov, A. Sapozhnikova, M. Sapozhnikov *Chuvash State University by I.N.Ulianov, Russia Background & objectives: Varkani syndrome or trisomy 8 mosai- cism is a chromosomal abnormality with an incidence of 1:25,000 to