Adenomul hepatocelular asimptomatic în glicogenoza Von Gierke, tip - IA la copii: particularități clinico-morfologice de diagnostic. Raport de caz

Abstract

Background: The glycogen storage disease and hepatic adenoma, among the liver origin pathologies in the pediatrics, represent a special interest in terms of clinical and pathomorphological diagnosis. These diseases separately and in common are quite rare, with a frequency below 5% of an asymptomatic form, especially the hepatic adenoma. Depending on age, hepatic adenoma is frequently diagnosed during routine or prophylactic imaging investigations. At the same time, the association of the hepatic adenoma with the congenital enzyme deficient substrate can contribute to the most common and severe complications: intra-abdominal hemorrhage and malignant transformation. Exactly these complications reveal the importance of an early diagnosis and a special management in the evaluation of these pathologies. Material and methods: The data were taken from the registers of the Pathological Anatomy and Cytopathology Service of IMSP IMșIC for the period of 1982-2022 for the evaluation of the incidence of glycogenosis. The anamnestic, paraclinical and autopsy data were provided from the medical record and the morphopathological investigation process no. 87/2022 of patient P-za, 11 years old with the diagnosis of von Gierke’s disease, type Ia serious evolution, associated with hepatic adenoma established at autopsy. Histological examinations were performed on tissue samples taken during the autopsy according to the protocol approved by order 722 of the Ministry of Health of the Republic of Moldova, corresponding to the protocols accepted in international anatomopathological practice. The histological methodology included: the samples histoprocessing, the usual staining methods - hematoxylin-eosin (H&E test) and histochemical tests with Mason’s trichrome (HC test - tcr. Mason) for the evaluation of the stromal connective component and the Carmin Best staining for the hepatocellular intra-cytoplasmic glycogen testing. Results: Evaluation of the registry data of the Centralized Pathological Anatomy Service, pediatric profile of the IMSP IMșIC over a period of 40 years (1982-2022) had attested an incidence of 0.006% of congenital glycogenoses diagnosed intravitally (out of 162532 patients) and 0.024% post-mortem (from 12810 autopsies), from which 0.008% Pompe disease, juvenile form and 0.016% von Gierke disease. The evaluation of the medical examination record showed that the child was been sick since birth with the predominance of digestive disorders symptoms, such as: vomiting, biochemical disturbances and hepatomegaly. Biochemical, ultrasonographic, x-ray and genetic molecular investigations showed the corresponding particularities of the glycogen storage disease: von Gierke’s disease (glycogenosis type Ia). The macroscopic examination revealed a significant hepatomegaly (29x21x20x10cm, weight 2359gr), hard-elastic to palpation, with rounded edges. In section the liver parenchyma was moderately spotted, yellowish, sticky. At the border between of the liver right and left lobes was attested a new-formed subcapsular structure with ø: 1.6 cm, greyish, with delimiting edges. The kidneys were enlarged in size (right: 10.4x4.6x4.0, weight 135gr; left: 16.3x5.4x4.4cm, weight 167gr). The microscopic examination revealed the basic changes at the liver and kidneys, as: hepatic and nephroepithelial protein dystrophic lesions, macro-microfocal dispersed hepatic steatosis form, generalized and multifocal glycogen storage in hepatocytes, nephroepithelium dystrophy with a high columnar epithelial feature, solitary lymphatic infiltrates in the portal areas with an unevenly accentuated connective component. In the hepatic adenoma case, the morphological characteristics were reserved. The hepatocyte cords were disorganized in trabeculae. The hepatocytes were enlarged, with accentuated heterochromatin in the presence of weakly expressed cellular atypia and fine glycogen deposits dispersed intracytoplasmic. The capillary-sinusoidal vascular bed weakly expressed were discrete infiltrated by lymphocytes. Conclusions: The present study, through usual and histochemical methods, elucidates the asymptomatic evolution of a hepatic adenoma, one of the most important complications of glycogenosis type Ia, in a child with eredo-collateral antecedents, in the presence of a hepatic steatosis, rendering the morphological microscopic particularities of the diseases.