[Holoprosencephaly: morphological aspects of twelve cases of autopsy]. / Holoprosencefalia: análise do seu espectro morfológico em doze casos de autópsia.

The term holoprosencephaly (HPC) is used to indicate the group of hemispheric deformities caused by a failure in the development of the prosencephalic vesicle. The purpose of this study is to explain the morphologic spector of twelve cases of HPC, qualify them, and compare them to the literature. It was evaluated 5837 pediatrics necropsies, and there were 12 cases of HPC. Data like gender, age and the presence of another associated malformations were evaluated and compared to another malformations and to the total number of necropsies. The majority of the cases was male (66.66%), and stillborns (75%). The most frequently type of HPC found was the lobar type (58.3%), and the most frequently type of facial alteration was the ciclopy (25%). There is a statistic tendency to HPC affect the male sex, in comparison with other neurologic malformations. Besides, the stillborns are more frequently observed in HPC than in other neurologic malformations.

[The neuropathology of neonatal period: analysis of 1616 autopsies]. / A neuropatologia no período neonatal: análise de 1616 casos de necropsia.

The lesions of the central nervous system represent an important cause of morbid-mortality in the neonatal period. This is due to the vulnerability of the brain to several adverse conditions during gestation and after birth. This study analyses the prevalence and pattern of central nervous system lesions in neonates autopsied at Hospital de Clínicas - Curitiba. There were 5743 pediatric autopsies performed in the Sector of Anatomic Pathology from 1960 to 1995 with 2049 cases corresponding to death during neonatal period. These later autopsies were reviewed and all cases with central nervous system lesions were selected and classified according to sex, age and pattern of central nervous system lesion. The central nervous system was affected in 1616 (78,87%) of neonatal autopsies and there was predominance of intracerebral hemorrhages (73,39%), congenital malformations (4,27%) and infections (3,59%). The hypoxic hemorrhages are the most prevalent central nervous system lesions in the neonatal period, affecting mainly premature babies. There was predominance of central nervous system malformations in the female neonates.

[Malformations of the central nervous system: analysis of 157 pediatric autopsies]. / Malformações do sistema nervoso central : análise de 157 necrópsias pediátricas.

The malformations of the central nervous system affect about 5 to 10 children per 1000 births. We studied the central nervous system malformations in 5837 pediatric autopsies performed in the Sector of Anatomic Pathology, Hospital de Clínicas-UFPR, between 1960 and 1995. There were 157 central nervous system malformations (2.69%), the commonest were neural tube defects (61%): 47 cases of anencephaly and 45 cases classified in the group of myeloencephaloceles. The anomalies of the prosencephalic evagination corresponded to 8% of all central nervous system malformations, with seven cases of holoprosencephaly. Posterior fossa malformations occurred in 3%, with three cases of Arnold-Chiari. In the present study, the mortality rate due to central nervous system malformations was higher in the neonatal period.

[Intrauterine and perinatal mortality: comparative analysis of 3,904 necropsies, Hospital de Clínicas, Curitiba, from 1960 to 1995] / Mortalidade intra-uterina e perinatal: análise comparativa de 3.904 necropsias do Hospital de Clínicas de Curitiba no período de 1960 a 1995.

OBJECTIVE: To analyze the influence of the perinatal, fetal or maternal pathological processes in the induction of intra or extrauterine death as a guideline to a better perinatal medical assistance.METHODS: The authors studied retrospectively 3,094 consecutive necropsy cases carried out in stillborn fetuses (NM) and newborns (ON) in the period between 1960 and 1995 in the SAP of HC, Curitiba. The data analyzed included sex, time of gestation and causes of death of fetus and newborns. All maternal conditions that might have contributed to intra or extrauterine fetal death were also studied.RESULTS: The prevalence of intrauterine death due to maternal diseases was two times higher than extrauterine. In contrast, the fetal diseases were responsible mainly for extrauterine deaths. Primary placental diseases were responsible for 30% of the deaths with low time of gestation and 40% of them in the end of gestation. The same group of diseases was responsible for only 15-9% of the extrauterine deaths. Diseases of labor contributed to 12-20% of deaths after birth while only 7 to 17% of intrauterine deaths.CONCLUSION: Necropsy studies contribute to the identification of pathologic processes which affect the patients of any medical center. If a pregnancy is associated with a certain disease, the epidemiologic data of this study can help to identify the period of major risk of death of the fetus or newborn.

[Brain hypoxic-injury of hemorrhagic pattern in newborns: analysis of 1028 autopsies from 1960 to 1995]. / Injúria hipóxico-isquêmica de padrão hemorrágico em encéfalos de neomortos do Hospital de Clínicas de Curitiba. Análise de 1028 casos de necrópsia entre 1960 e 1995.

Hypoxic-ischaemic injury of the central nervous system (CNS) in newborns is a very prevalent entity affecting 1 to 6 children per 1000 births. This injury may induce severe neurological sequelae. We present the analysis of 1028 consecutive cases of hypoxic-ischaemic CNS injuries of haemorrhagic pattern detected in autopsies performed at the Division of Anatomic Pathology, Hospital de Clínicas, University of Paraná, Brazil, from 1960 to 1995. The prevalence of these lesions was high (49.73%) amongst all autopsied newborns. The main types of haemorrhage were microscopical intra-parenchymal haemorrhages, intraventricular and periventricular haemorrhages and subarachnoid foci of bleeding. Our results emphasize that premature children constitute a high risk group for CNS haemorrhage needing special preventive therapeutic procedures to avoid neurological complications.

[Electron microscopy study in neurodegenerative diseases in childhood]. / Estudo por microscopia eletrônica em doenças neurodegerativas na infância.

Neurodegenerative diseases are a group of disorders in which there is storage of abnormal material in cells throughout the body due to an enzyme defect. The authors present the experience in the diagnosis of the neurodegenerative diseases in infancy by electron microscopical study of skin, conjunctival and rectum material of 89 patients and 2 necropsy cases. The age of the patients ranged from 49 days to 13 years with speak age of incidence in first year of life (n = 28). Fifty patients were female and 39 were male. The most frequent sites of biopsy were the skin and conjunctival. Of the total 89 patients, 15 had a definitive diagnosis (16.8%) including 4 cases of gangliosidosis, 3 cases of mucopolysaccharidosis, a case of Gaucher's disease, a case of Niemann-Pick disease, 3 cases of neuronal ceroid lipofuscinosis and 3 cases of storage disease which could not be specified. The authors studied all these patients within clinic and ultrastructural aspects and concluded that electron microscopy is an important method in diagnosis of storage diseases but with a low sensitivity as a single "screening" test for patients with progressive encephalopathy.