Biomedical subjects
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The authors report a liver tumor that occurred in a 6-month-old boy in which areas of yolk sac and hepatoblastoma were identified. To the best knowledge of the authors, this morphologic pattern has not been reported previously. Theories of histogenesis are discussed.
An 8-year-old girl presented with the clinical features of acute appendicitis. The removed appendix was normal but the abdominal pain persisted. There were no urinary symptoms and bacteriological examination of the urine was negative. An ultrasound scan showed an intravesical tumor that was subsequently excised. Histology showed a grade 1 transitional cell papillary bladder carcinoma of low grade malignancy. All previously reported cases have presented with urinary tract symptoms, usually hematuria.
Two cases are reported of intra-abdominal small cell tumours expressing concomitant neural and epithelial differentiation. These features were discernible on conventional microscopy and supported immunocytochemically. Immunoreactive vimentin was also revealed in both tumours, and, in addition, one showed focal desmin positivity. Epithelial differentiation in both tumours was confirmed ultrastructurally. The tumours were interpreted to represent a variant of peripheral primitive neuroectodermal tumour, and the report serves to emphasize a potential among such tumours for complex differentiation. The neoplasms are compared with other similar tumours reported recently in children.
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Nine hundred and fifty-one paediatric autopsies showed 24 cases in which the parotid contained cytomegalovirus-(CMV-) type inclusions. Parotid inclusions were found only during the first two years after birth. Of those with parotid inclusions, 15 showed microglial nodules in the brainstem and/or cerebellum. All the infants with microglial nodules were less than 6 months old. Only four infants without parotid inclusions showed microglial nodules. In just over half of the cases with parotid inclusions and microglial nodules death had been recorded as cases of sudden infant death syndrome. Whether there was any connection between the cause of death and microglial nodules remains uncertain as the microglial nodules were usually sparse and widely distributed. Some theories are proposed in this regard and in connection with those dying with parotid inclusions in the absence of microglial nodules. Until the question is finally resolved it may be prudent to view separately all cases of unexplained sudden death in infancy with evidence of CMV infection.
We report a family in whom a fatal case of medium-chain acyl-CoA dehydrogenase (MCAD; EC 1.3.99.3) deficiency was diagnosed by enzymatic analysis of heart tissue that had been stored for five years. Three healthy siblings underwent subsequent investigation with the 3-phenylpropionic acid loading test. All siblings had been asymptomatic; however, one (age 2.5 years) excreted large amounts of 3-phenylpropionylglycine in response to the load and exhibited an organic aciduria consistent with the diagnosis of MCAD deficiency. The other two siblings did not demonstrate 3-phenylpropionylglycinuria after the loading test. This case underlines the importance of considering family history and using appropriate diagnostic tests in the recognition of hereditary metabolic disorders.
A clinico-pathological study has been carried out on 32 brains of children with hydrocephalus in whom the hydrocephalus had been completely controlled by shunting. The cell and myelination activity of the corpus callosum in these children is within the normal range for children of the same age, which contrasts markedly with the findings in children in whom the hydrocephalus is in a progressive state.
The lobular pattern of the superior surface of the cerebellum has been described in 100 children with myelomeningocele. There is a wide range of abnormality. The inferior displaced cerebellar segment shortens with age, but the superior surface deformity probably remains unchanged and is, therefore, useful in indicating the original extent of the caudal part of the defect in the older child. The most severe change showed the cerebellar h emispheres to be separated by a deep midline identation (split cerebellum); this was associated with hypoplasia of the superior vermis which supports an inception during the organogenetic period of development. Other cerebellums showed less severe deformities and their inception was comparatively later in development. Thus the degree of deformity of the cerebellum is probably related to its time of onset. Furthermore, the findings suggest that we are dealing with a secondary disturbance. It is evident that the cerebellar defect is not limited to its caudal aspect; this should increase the specificity of the hindbrain malformation is children with myelomeningocele.
An unusual nodular lesion of the liver is reported. The appearances closely resembled those described in cases referred to as partial nodular transformation, but there were several unusual features; these included areas with the appearances of cirrhosis, and significantly raised alkaline phosphatase and gamma glutamyl transpeptidase. Differentiation of this condition from other nodular lesions described in the literature is discussed. In the case reported here the Rose Waaler and Latex tests were also positive and this may be significant in view of certain types of nodular conditions described in some rheumatoid conditions. Although it is quite possible that these various lesions are related histogenetically, until more information becomes available, it is proposed that the lesion described here represents a variant of partial nodular transformation in which the changes in some areas have progressed to a stage of fibrosis.
A case of cerebro-hepato-renal syndrome with some unusual features is reported. The neuropathological findings are described in detail. Electronmicroscopy showed astrocytes in the demyelinated areas of the brain to contain granules composed of laminated osmiophilic material. These structures could be abnormal mitochondria. The parental consanguinity in this case would further support an autosomal recessive mode of inheritance.
The myocardium was studied for the presence of fat in 980 pediatric deaths over a wide age range during a 10-year period. Of these, only 67 cases (7%) were found to have fatty change. The cause of death varied widely and no common pathogenetic factor was identified. Infections and congenital disorders constituted the most frequent causes of death associated with fatty change. The degree of fatty change was variable. Severe fatty change correlated with severe panacinar fatty change of the liver. The pathogenesis of the lesion is discussed.