Case 1. Adult polycystic renal disease in a young child.
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Biomedical subjects
Publications and source records attributed to M Valdes-Dapena.
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A 19-month-old, 3.6-kg (8-lb) female child dies after a protracted course. The child was premature and suffered a stormy perinatal and postnatal period. When there is underlying disease or a condition potentially sufficient in and of itself to result in a "starved child," isolation of the results of potential neglect presents particular difficulties. The approach to the resolution of this question will be addressed.
Autopsies are essential in the investigation of sudden unexpected deaths. To maximize the effectiveness of the autopsy in these cases, the pathologist must assess the circumstances leading to the person's death, should be knowledgeable of the diseases most often responsible for sudden death, and should use dissection techniques most appropriate for their disclosure. In adults, the great majority of sudden deaths are cardiogenic and related to diseases of the coronary arteries, cardiac valves, or myocardium. In infants and young children, however, extracardiac diseases are prevalent in the causation of sudden deaths. Approximately one third of these are inexplicable (sudden infant death syndrome).
During the past 15 years, increasing numbers of pathologists have adopted the practice of holding postautopsy conferences for families. This type of small meeting is held to inform the relatives of the deceased of the cause of death and its meaning. These postautopsy conferences are easy to organize and conduct, and they are not time consuming. However, they are deeply appreciated by families and sometimes make a significant difference in their lives.
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Sudden infant death syndrome (SIDS) probably represents a number of specific processes rather than one disease, the causes of which have so far eluded scientists. Various hypotheses as to cause are discussed, as is the role of the emergency physician. Also considered are apparently life-threatening events such as prolonged sleep apnea, laryngeal-induced apnea, gastroesophageal reflux-induced apnea, and seizure-associated apnea.
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Two patients with fatal, laboratory-confirmed Rocky Mountain spotted fever (RMSF) were noted early in their course to have a skin lesion characteristic of a rickettsial eschar. Postmortem immunofluorescent and histopathologic studies demonstrated that the lesions were sites of extensive contiguous infection by Rickettsia rickettsii with associated injury to numerous local blood vessels. Rickettsial vasculitis and occlusive luminal thrombosis were associated with dermal and epidermal coagulative necrosis forming the eschars. Both eschars were noted to be the sites of a bite. In one case the arthropod was identified as a tick. The clinical importance of the search for an eschar in a patient suspected of having RMSF is that diagnostic skin biopsy immunofluorescent demonstration of R. rickettsii may be performed prior to the onset of the rash.
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A unique occurrence of antenatal thrombosis of the left main coronary artery in a term infant is presented. The clinical features are indistinguishable from those of several other forms of congenital heart disease. The etiology of the thrombosis is unknown.
Multiple unusual diverticula of the bladder were observed in 3 of 4 children with Menkes' syndrome. This abnormality of the bladder in children with the kiky hair syndrome has only recently been recognized. The diverticula are best visualized on cystographic studies. The clinical manifestation which led to roentgen evaluation of the urinary tract in the 3 children was urinary tract infection or urine retention. Though the etiology of these diverticula is unknown, evidence is presented to suggest that they are acquired.
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