Significance of mediastinal metastatic disease in Wilms' tumor of favorable histology.

Although the results of the National Wilms' Tumor Study suggest poor outcome for children with metastases to intra-abdominal, intracranial, skeletal, skin, diaphragm, or mediastinal sites, the incidence and course of mediastinal disease has not been described. Fifty-four newly diagnosed Wilms' tumor patients at Children's Hospital of Michigan (1972-1980) were studied for patterns of intrathoracic metastases. All had favorable histology; mean age (MA) at diagnosis was 4.5 years. Initial chemotherapy ranged from single agent to three-drug combination (actinomycin, vincristine, adriamycin). Intrathoracic metastases occurred in 14 (26%) from 0-28 months (median, 3.5 months) from diagnosis (MA, 5.8 years). Upon the discovery of intrathoracic metastases all received radiation (1,200-2,000 rads) to the chest, some with supplementary doses to the mediastinum. Five children with parenchymal and one with parenchymal and hilar metastases appearing 0-28 months after the time of diagnosis survive disease-free 44-127 months after metastases appeared (MA, 6.3 years). Eight children developed parenchymal and mediastinal metastases (MA, 5.4 years). Time from diagnosis to parenchymal metastases was 0-7 months; time from diagnosis to mediastinal metastases was 0-16 months; and in four, both sites appeared simultaneously. Death occurred in all eight patients 7-25 months from diagnosis. Only one child had evidence of recurrence outside the chest. Potential risk factors and influence on survival are discussed.

Rhabdomyosarcoma and benign teratoma.

A case of mediastinal embryonal rhabdomyosarcoma occurring with a benign teratoma is reported. In all histologic sections of tumor, the two elements were distinctly separate. This is felt to represent two independently developing tumors that ultimately fused to form a "collision tumor" rather than a sarcoma arising in a benign teratoma.

Cystadenoma of the pancreas with cytomegalovirus infection in a female infant.

Cystadenoma of the pancreas, principally a disease of adult women, was found in a female infant. This benign, nonfunctional tumor is usually amenable to surgery and a cure is to be expected after extirpation. The pathogenesis of this mass is unknown, but the finding of a cytomegalovirus infection in an excretory duct at the tumor base in this case leads us to speculate that obstruction of the excretory duct is a possible cause.

Primary malignant lymphoma cutis in an infant: case report and review of literature.

A 6-month-old infant with primary malignant cutaneous lymphoma is presented. The histologic differentiation between benign cutaneous lymphoid hyperplasia and cutaneous malignant lymphoma is discussed. Intensive therapy is warranted at the onset because of early dissemination and poor response to treatment after dissemination.

Pulmonary calcifications in a child with renal failure.

A chronically azotemic 2 6/12 boy developed diffuse, bilateral pulmonary calcification. The radiographic features and pathologic mechanism of such pulmonary calcification is discussed.

Upper cervical myelopathy in achondroplasia.

Two achondroplastic infants had small foramina magna with lethal compression of the corresponding upper cervical spinal cords. The damage was histologically comparable to the hyperextension type of spinal cord injury. An anterior displacement of the foramen magnum was demonstrated in one of the two cases. The displacement is considered worthy of future verification as it may be an additional factor in susceptibility to hyperextension injury to the spinal cord. The second patient survived 6 months, demonstrating that not all upper cervical spinal cord injuries are immediately fatal. Patients who have sublethal lesions are potentially salvageable by surgery. It is also speculated that there might be more cases of nonlethal upper cervical spinal-cord damage in achondroplasia, especially in early infancy when infants are unable to hold their heads erect. The true incidence of slight upper cervical spinal cord damage is not known, although it is considered rare at present. As a result of the findings in these two cases, it is suggested that hyperextension of the head be avoided, when possible.

Conjugated hyperbilirubinemia in infancy associated with parenteral alimentation.

Liver biopsy was performed to exclude anatomic obstruction of the biliary tract in five prematurely born infants who had developed conjugated hyperbilirubinemia during intravenous alimentation with a protein hydrolysate. Each was being treated after having undergone a segmental intestinal resection for necrotizing enterocolitis. Bacterial and viral infections, metabolic disorders, and isoimmune hemolytic disease were excluded as possible causes of jaundice. Light microscopic and ultrastructural analysis disclosed cholestasis and hepatocellular injury without significant inflammatory reaction. Jaundice abated following permanent discontinuation of parenteral alimentation. The jaundice and cholestasis are interpreted to be hepatotoxic effects because of (1) their temporal relationship to the treatment and (2) the presence of hepatocellular damage.

Rhabdomyoma of the heart: ultrastructural study of three cases.

The electron microscopic features of three primary cardiac rhabdomyomas were studied for the first time. Distinct striated muscle cells arranged in a disorderly fashion are described. The cases demonstrated a spectrum of possible myobibril differentiation with one case having only Z-bands and myosin filaments present while the other two had well formed thick and thin filaments with all of the bands present including Z, I, A, H, and M. Glycogen bodies, numerous mitochondria with tubular cristae, lipid deposits, and peculiar striated structures resembling zebra bodies were also seen. Desmonsomal attachments suggestive of Purkinje-type fibers were seen in all of the cases and were the only types seen in cases 2 and 3. In addition, intercalated discs characteristic of myocardial fibers were noted in case 1. This finding still leaves the exact histogenesis of the lesion uncertain although origin from two types of fibers is possible.

Bilateral interstitial pneumonia in acute lymphoblastic leukemia.

Of 148 children with acute lymphoblastic leukemia (ALL) 34 had bilateral interstitial pneumonia (BIP). Their records were reviewed retrospectively to evaluate the incidence of this pneumonia and delineate the various etiologic factors involved. All but 1 were in remission; 82% of the episodes occurred within the first 6 months, the majority of these occurring during the first 3 months of diagnosis of ALL; 16 were receiving methotrexate (MTX), and 14 were receiving combination chemotherapy with vincristine, prednisone and 6-mercaptopurine (6-Mp) and 4 were on no systemic therapy. Thirty patients with 35 episodes recovered within an average period of 18 days, including clearance of radiologic findings; 4 died. Four had open lung biopsies without complications. There was a single case of pneumocystis carinii infection diagnosed postmortem. Laboratory data and histopathologic findings (of 4 biopsies and 3 remaining autopsies) were suggestive of a viral etiology. The incidence of BIP in ALL at Children's Hospital of Michigan is 22.9% with a mortality rate of 10.3%. The incidence of pneumocystis carinii infection appeared to be low. Hypersensitivity to MTX was not substantiated.

Triploidy syndrome. A report on two live-born (69, XXY) and one still-born (69, XXX) infants.

Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.

Lethal short-limbed chondrodysplasia in early infancy.

Nineteen cases of chondrodysplastic short-limbed dwarfism in early infancy were studied in the context of current clinical classification based on established radiographic criteria. The histopathologic findings were sufficiently distinctive in most categories to provide additional diagnostic criteria and to contribute to the understanding and delineation of these disorders. 1. Homozygous achondroplasia is distinguished by markedly disturbed endochondral ossification that differs from the pattern seen in typical heterozygous achondroplasia. The physeal chondrocytes contain abundant granules of glycogen. 2. Achondrogenesis, the severest form of chondrodysplasia, exists in 2 types, in which the histopathologic findings appear to be distinctive and diagnostic. Type 1 is characterized by severe disturbance in endochondral ossification. The zone of resting cartilage contains relatively normal matrix, and the chondrocytes contain intracytoplasmic inclusions. The cartilaginous matrix in type 2 is markedly deficient, and the chondrocytes have a large, primitive, mesenchymatous appearance. 3. Thanatophoric dwarfism is associated with disorganized endochondral ossification similar to that in homozygous achondroplasia, but there is no accumulation of glycogen within chondrocytes. Type 2 thanatophoric dwarfism is differentiated from classical type 1 by the presence of cloverleaf skull and histologically by many bone-lined, penetrating vascular canals in the physis and by hyperactive osteoblasts and osteoclasts in the metaphysis. 4. Asphyxiating thoracic dysplasia of Jeune is differentiated histologically into 2 types. Type 1 is characterized by patchy distribution of endochondral ossification in the physis, irregular physeal-metaphyseal junction and large islands of poorly mineralized cartilage in the metaphysis. Type 2 is characterized by uniform distribution of endochondral ossification that is disorganized and is accompanied by advancing cartilage forming latticelike meshwork in the metaphysis. 5. Chondroectodermal dysplasia, which is radiographically similar to asphyxiating thoracic dysplasia, is marked by the presence of large islands of poorly mineralized cartilage in the spongiosa of vertebral bodies. Disorganized endochondral ossification is, however, uniformly distributed, and there is no latticelike advancing cartilage in the metaphysis. 6. Chondrodysplasia punctata is characterized by myxoid and cystic degeneration of physeal and epiphyseal cartilage with focal calcification. Type 2 (Conradi-Hünermann) has a nearly normal pattern of endochondral ossification, even though there may be severe disturbance and retardation of the process. The columnization of physeal chondrocytes is normal. Type 1 (rhizomelic) differs by having markedly retarded and disorganized endochondral ossification. 7...

Correlation of head circumference and crown-rump length in newborn infants. A potential indicator of congenital maldevelopment.

A study of 305 consecutive neonatal autopsies done by two prosectors showed a high correlation between the head circumference (HC) and crown-rump length (CR). The calculated formula can be stated approximately as HC equals 0.9 CR + 2.5 cm, and the two measurements are for all practical purposes equal in the immediate neonatal period, regardless of race, sex, age and body weight. When the HC was found to be significantly larger than CR, hydrocephalus and certain types of chondrodystrophy were present. When the HC was significantly smaller than CR, there was a higher incidence of congenital heart disease, especially hypoplastic left heart syndrome, and congenital central nervous system disorders other than hydrocephalus. From a practical point of view, a significant difference is a discrepancy of more than 2.5 cm. 102 consecutive living neonates were also similarly studied. It appears that the CR length when carefully measured under standardized condition is more reliable than the crown-heel length.

The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome.

Renal malformations in cerebrohepatorenal and the Jeune syndromes are variable, encompassing both focal cystic change and severe cystic dysplasia. Morphologic differences might reflect either genetic heterogeneity or injury to the kidney by an underlying metabolic defect at differing times in renal development. The renal lesion in the Meckel syndrome is cystic dysplasia with markedly defective nephronic differentiation. A histologically distinctive cystic tubular lesion is identified in tuberous sclerosis. These lesions must be differentiated from infantile and adult polycystic disease.