Biomedical subjects
Publications and source records attributed to S Variend.
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.
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Four cases of cervical thymic cyst are described. Clinical and microscopic appearances are reviewed, with reference to its distinction from branchial cyst. The use of monoclonal antibodies to cytokeratin as a histologic aid to diagnosis is discussed.
The youngest patient reported to date with granular cell tumour of the larynx is presented, with a review of other reported cases in childhood. The basis of histological diagnosis of granular cell tumour is described.
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Heart muscle from infants who died unexpectedly and who showed fatty changes in the liver at necropsy was analysed for long chain and medium chain acylcoenzyme A dehydrogenase activities by using the natural electron acceptor. In two of the seven cases investigated a deficiency in acylcoenzyme A dehydrogenase activity was found. In one case the deficiency was in medium chain acylcoenzyme A dehydrogenase activity and in the other long chain acylcoenzyme A dehydrogenase activity. These findings emphasise the importance of investigating fatty acid oxidation in infants who have died unexpectedly.
Two cases of haemolytic uraemic syndrome (HUS) associated with pseudomembranous colitis (PMC) are described. The toxin of Clostridium difficile was detected post mortem in the stool of one patient and the other patient showed a good therapeutic response to oral vancomycin, an antibiotic with established efficacy in the management of PMC. When associated with HUS, PMC is probably an independent specific disease that, in common with many other infections, may activate HUS.
Posterior cleft larynx associated with a local hamartoma is a rare malformation complex. Clinical diagnosis may be elusive. We report such a combination in a newborn infant dying soon after birth with upper airways obstruction.
Three children with cystic fibrosis developed steatorrhoea unresponsive to changes in pancreatic supplements. The final diagnoses were chronic giardiasis, stagnant loop syndrome, and Crohn's disease. Refractory intestinal symptoms in cystic fibrosis merit further investigation.
The mineral content of rib bone in infants who died unexpectedly was similar to that among those who died after acute illnesses, and it was significantly associated with both crown to heel length and age. In those dying from chronic illnesses it was lower than in the other two groups.
Three hundred specimens of oesophagus obtained at necropsy from infants and children aged from 0 to 14 years, dying from a variety of causes, were examined prospectively for evidence of gastric heterotopia. Gastric heterotopia was observed in 63 (21%) of the whole series, representing a much higher incidence than reported previously. Excluding deaths in the perinatal period, the incidence appeared to be inversely related to age. Heterotopia was restricted to the subcricoid level of the oesophagus and often showed a close association with lymphoid tissue. There was no association with congenital malformation, and heterotopia occurred more commonly in those infants whose deaths were unexplained, although the reason for this association was unclear.
Two sudden infant deaths of female siblings occurring at the ages of six and 5 1/2 months are reported. The temporal separation of their deaths was 14 months. Both showed virtually identical pathological findings within the central nervous system, consistent with encephalomyelitis. No causative agent, metabolic defect or common predisposing factor was identified and no evidence of a relationship to immunisation could be established.