RESUMO
The case of a 17-year-old female with a rare form of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor is reported. Laparoscopy showed a tumor 50 mm in diameter in the lower portion of the right lobe of the liver. The tumor was biopsied under ultrasonic guidance, and tentatively diagnosed as adenomatous hyperplasia. The patient was also diagnosed as having type VIII glycogenosis (phosphorylase kinase deficiency).
Assuntos
Carcinoma Hepatocelular/complicações , Doença de Depósito de Glicogênio Tipo VIII/complicações , Doença de Depósito de Glicogênio/complicações , Cirrose Hepática/complicações , Neoplasias Hepáticas/complicações , Adolescente , Carcinoma Hepatocelular/diagnóstico por imagem , Carcinoma Hepatocelular/patologia , Feminino , Sistema da Enzima Desramificadora do Glicogênio/deficiência , Doença de Depósito de Glicogênio Tipo VIII/diagnóstico por imagem , Doença de Depósito de Glicogênio Tipo VIII/enzimologia , Doença de Depósito de Glicogênio Tipo VIII/patologia , Humanos , Cirrose Hepática/diagnóstico por imagem , Cirrose Hepática/patologia , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/patologia , Fosforilase Quinase/deficiência , Tomografia Computadorizada por Raios XRESUMO
Glycogenosis Type VIII, characterized ultrastructurally by an accumulation of rosettes (alpha-particles) of glycogen in the central nervous system, is an extremely rare condition; only two sporadic cases are on record. The first complete autopsy on a patient with cerebral alpha-particle glycogenosis, a 20-year-old American-Indian female, is the subject of this report. The case was clinically unique because of long survival and presumable familial incidence. The gross pathology was characterized by severe brain atrophy but preserved thickness of the cortical mantle. Vacuolation of the neuropil was the main histological abnormality and was most extensive in the striatum and less so in the cerebral cortex and some brain stem nuclei. Biochemical analysis showed glycogen levels elevated fiftyfold in the striatum and eightfold in the cerebral cortex in comparison with control tissue. Ultrastructural observations and evidence obtained from the Golgi method suggest that the distal axon was the principal site of storage. Two prominent additional abnormalities, spheroids, not previously observed in this disease, and massive accumulation of lipofuscin, were probably both related to the prolonged course of illness. The viscera, including the liver were morphologically free of storage.
Assuntos
Encéfalo/patologia , Doença de Depósito de Glicogênio Tipo VIII/patologia , Doença de Depósito de Glicogênio/patologia , Adulto , Encéfalo/ultraestrutura , Química Encefálica , Córtex Cerebral/patologia , Córtex Cerebral/ultraestrutura , Corpo Estriado/patologia , Corpo Estriado/ultraestrutura , Feminino , HumanosRESUMO
Different types of hepatic, muscular, and generalized forms of glycogen stogare disease, a hereditary disease caused by glycogen metabolism disorders, are analysed. The clinical and biochemical features of these diseases are described. The data on enzyme defects and methods for their detection in different types of glycogenoses as well as on the prevalence of the disease in different countries are presented.
