Lymphomatoid granulomatosis-like lesions in a child with leukemia in remission.

This case report describes an eight year old leukemic child who was in remission for four and one-half years and showed hypogammaglobulinemia and deficient leukocyte chemotaxis and migration. She developed pulmonary lesions with laryngeal and tracheobronchial disease and died from pulmonary hemorrhage. The lesions found at autopsy were lymphomatoid granulomatosis-like, but were atypical in their anatomic distribution, behavior, and histologic features.

Subdural neomembranes and sudden infant death syndrome.

Cranial dura maters of 36 consecutive infants with sudden infant death syndrome (SIDS) and 16 control infants coming to the Department of Coroner were examined microscopically to determine if subdural neomembranes are associated with cases submitted as SIDS. Thirty-one percent (31%) of the infants with SIDS and 13% of control infants had organizing subdural neomembranes (p > 0.05). Overall prevalence of organizing subdural neomembranes was 25% in the group examined. In all but two cases, birth trauma could be excluded as a cause of head trauma by aging neomembranes histologically. No association was found between type of delivery (vaginal or Cesarean) and presence of a subdural neomembrane. Subdural neomembranes are common in infants autopsied in a forensic setting, but they may be missed without a microscopic examination. Subdural neomembranes have no demonstrated association with SIDS.

A case of cerebral gigantism and hepatocarcinoma.

A 14-year-old boy, who had the physical and neurological characteristics of cerebral gigantism (Sotos syndrome), developed hepatocarcinoma. This tumor is rare in children and has never, to our knowledge, been recorded in a patient with cerebral gigantism. An autopsy was performed, the first we are aware of in a patient with cerebral gigantism without increased size in ventricles.

Papillary pore counts: a method of studying developmental aberrations in diseased juvenile kidneys.

Counts of the number of pores of primary collecting tubules (ducts of Bellini) on renal papillae, and values calculated by adjusting the counts of compound papillae to those of "virtual" single papillae, were determined for kidneys of patients with end-stage renal failure. Values for chronic glomerulonephritis, Alport's disease, infantile polycystic disease, trisomy 18, and trisomy 13 were not abnormal. Kidneys of patients with CUTO showed significantly low pore counts, indicating that this process in some cases is a true hypoplasia, with mean reduction of number of ducts of Bellini of 26%. FGS showed a high proportion of single papillae (80% vs. normal 60%) with high virtual pore counts, suggesting that a developmental abnormality underlies this disorder (or this outcome of nephrotic syndrome). Cystinosis showed a high proportion of compound papillae (80% vs. 40%) but low virtual pore counts, implying that this genetic disorder causes both maldevelopment and postnatal functional abnormality of the kidneys. A Jeune syndrome kidney produced very low pore counts (mean 8 vs. 16.6 for virtual pore counts), and Down's syndrome also showed low pore counts (mean VPC 15.1 vs. normal 16.6), indicating that the low kidney weights demonstrated by others with Down's syndrome reflect a true hypoplasia.

Fulminant hepatitis. A presentation of Wilson's disease.

A boy, 10 years of age, was admitted to the hospital with rapid onset of hepatic failure and died within three weeks. Laboratory and pathological data were consistent with Wilson's disease. We discuss the importance of Wilson's disease in the differential diagnosis of acute liver failure.

Focal glomerulosclerosis in renal allografts: association with the nephrotic syndrome and chronic rejection.

Focal segmental and/or global sclerotic glomerular lesions with hyalinosis were noted in three allografts in association with the nephrotic syndrome (NS) and chronic rejection (CR). Similar lesions were absent in eight allografts with CR without NS. Previous reports have stressed the presence of this lesion in allografts with recurrence of the disease entity "idiopathic nephrotic syndrome with focal glomerulosclerosis". Both clinical and pathologic evidence suggest that recurrence was not a factor in the pathogenesis of the lesion in the three allografts with CR and NS. The presence of these lesions in failing allografts may represent the result of CR with associated NS rather than recurrence of the disease entity.

Hyperlipidemia in pediatric hemodialysis and renal transplant patients. Associated with coronary artery disease.

Fasting serum cholesterol and serum triglyceride levels were determined in 15 maintenance hemodialysis (MH) and 35 renal transplant (RT) patients. Fourteen of 15 MH patients (93%) had elevated triglyceride levels (greater than 140 mg/100 ml) compared to 11 of 35 RT recipients (31%) (P less than .001). Two of 15 MH patients (13%) had elevated cholesterol levels (greater than 230 mg/100 ml), compared to 18 of 35 RT recipients (51%) (P = .03). In MH patients, a positive correlation was noted between serum triglyceride levels and carbohydrate intake (P = .03). Autopsy material from 12 children who underwent MH or RT was compared to material from 16 age-matched controls; an increased collagenous content of intima, a possible early indicator of coronary artery disease, was noted more frequently (P less than .006) in index patients compared to controls. Our data demonstrate that hyperlipidemia is a frequent finding in pediatric patients treated with MH and RT, and may be associated with premature coronary artery disease.

Focal glomerulosclerosis and renal transplantation.

Eighteen patients with corticosteroid-resistant nephrotic syndrome developed end-stage renal disease and received one or more renal allografts. The lesion of focal segmental glomerulosclerosis and/or of focal glomerular obsolescence was demonstrable in the native kidneys of each patient. Following transplantation, nephrosis developed in three recipients. Two recipients developed nephrosis at two weeks and nine months posttransplant in association with rejection; the lesion of FGS was present in association with chronic rejection. Only one recipient developed recurrence of nephrosis and FGS unrelated to rejection. This was manifested by immediate onset of nephrosis in two successive allografts and histologic evidence of the lesion of FGS. The immediate recurrence in successive allografts suggests a circulating factor responsible for the renal lesion in this patient and indicates a separate etiology for a small number of patients with corticosteroid-resistant nephrosis and FGS.

Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome.

Disorders of fatty acid beta-oxidation have been suggested as playing a significant role in the sudden infant death syndrome (SIDS). To elucidate the role of medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in SIDS, we identified all cases of SIDS occurring in Los Angeles County between January 1986 through December 1991. A total of 1304 SIDS deaths were identified; tissue samples were collected in 1236 cases (94.8%). Extraction of DNA was successful in 1224 tissue samples (93.9%), which were examined for the presence of the G985 mutation, identified as occurring in more than 88% of affected cases of MCAD deficiency. Three heterozygotes and no homozygotes were identified; this incidence does not differ from that reported in the general population. Review of the pathologic specimens from the identified heterozygotes and from 18 ethnic-, age-, and sex-matched control subjects revealed significant fatty infiltration of all organs examined in one of the three heterozygotes and in none of the control subjects. We conclude that MCAD deficiency does not play a significant role in the causation of SIDS.