Pediatric necropsies by general pathologists.
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Adolescent↗
Biomedical subjects
E F Gilbert
Publications and source records attributed to E F Gilbert.
Hematological and biochemical paraneoplastic disorders.
Paraneoplastic disorders (PNDs) are remote effects of tumors that are unrelated to the size, location, metastases, or physiological activities of mature tissue of origin. Some of these disorders, such as fever and anemia, have been known for a long time. Other disorders, such as lymphopenia and low serum cholesterol levels, have been described only recently. In a study of 900 patients, including two control groups, some of the PNDs were demonstrated to be good indicators for diagnosis and prognosis in cases of cancer. A number of these disorders, however, may occur in patients suffering from terminal diseases other than cancer.
Adult↗
Studies of malformation syndromes of man XLVII: disappearance of spermatogonia in the Fanconi anemia syndrome.
A 15 year old boy with the Fanconi malformation-aplastic anemia syndrome developed erythroleukemia and died of multiple arterial thromboses and hemorrhage. He was one of 10 siblings including 3 affected sisters. He was short of stature and had hypoplastic thumbs; his testes were small and secondary sexual characteristics were inadequately developed. At autopsy he was found to have very few spermatogonia, i.e., a histological picture compatible with the "Sertoli-cell-only" defect. Male hypogonadism in other chromosome breakage syndromes (the Bloom syndrome and ataxia telangiectasia) may have a similar pathogenesis.
Adolescent↗
Absence of spermatogonia in the Prader-Willi syndrome.
Bilateral testicular biopsies in an 81/2 year old boy with the Prader-Willi syndrome showed total absence of spermatogonia. Similar findings in postpubertal cases (Wannarachue et al., 1975) suggest that testicular dysplasia is one of the reasons for hypogonadism in males with the Prader-Willi syndrome.
Biopsy↗
The effect of practolol and butoxamine on aortic arch malformation in beta adrenoreceptor stimulated chick embryos.
An equimolar dose of the beta-1 adrenoreceptor antagonist practolol administered to embryonic chicks prevents the induction of aortic arch malformations by isoproterenol. Whereas 3.75 X 10(-9) mole isoproterenol in 5 microliter saline solution induced aortic arch anomalies in 39% of embryos injected at Hamburger-Hamilton developmental stage 26, pretreatment with practolol one to two minutes before catecholamine administration reduced the anomaly rate to to 4%. Practolol when injected alone did not influence survival rate nor did it cause cardiovascular malformations. Probably the most significant result of this study involves the prevention by practolol of aortic hypoplasia and interrupted aortic arch complexes, anomalies frequently induced by isoproterenol when administered at this stage of embryonic chick development. Butoxamine, a beta-2 adrenoreceptor antagonist, did not block the overall effect of isoproterenol nearly as effectively as did practolol. Results from the present study suggest that aortic arch anomalies may be induced in embryonic chicks via beta-1 adrenoreceptor stimulation. Beta-2 receptor stimulation does not appear to be as significantly involved.
Abnormalities, Drug-Induced↗
The effects of methylxanthines on catecholamine-stimulated and normal chick embryos.
Dose of theophylline and caffeine which do not produce aortic arch anomalies in embryonic chicks have been shown to potentiate catecholamine-induced aortic arch malformations in that experimental animal. Theophylline (2.1 X 10(-5) mole per milliliter isotonic saline solution) potentiated the effective dose of norepinephrine more than 100 times. The greatest potentiation observed with epinephrine (2.5 X) was induced by 2.6 X 10(-5) mole caffeine. This study also demonstrated that both methylxanthines specifically induce aneurysms of the ascending aorta and complete absence (or nearly complete constriction) of the right ductus arteriosus. The incidences of these types of cardiovascular malformations proved to be dose dependent with theophylline a more potent teratogen than caffeine. The mobilization of calcium and/or cyclic nucleotide phosphodiesterase inhibition by the methylxanthines are suggested as significant actions in the potentiation of catecholamine-induced aortic arch anomalies.
3',5'-Cyclic-AMP Phosphodiesterases↗
Chronotropism and blood flow patterns following teratogenic doses of catecholamines in 5-day-old chick embryos.
In vivo heart rates of 5-day-old chick embryos were recorded from electrodes placed in close proximity to the heart. L-epinephrine (4X10(-10) mole), 1-norepinephrine (1X10(-9)mole) and 1-isoproterenol (1.6X10(-10)mole) in 5 microliter of isotonic saline transiently accerlerated the mean heart rate by almost 9 percent. L-phenylephrine (2X10(-9)mole/5microliter) and the experimental procedure produced no appreciable effect. The positive chronotropic effect of the catecholamines was found to be highly significant (P less than 0.0005) as computed by Student's t test. However, no direct relationship could be established between the chronotropic response and the aortic arch anomalies produced. A prolonged reduction of blood flow in the primitive heart tube and the sixth aortic arch after administration of epinephrine and isoproterenol is apparently related to the induction of hypoplastic right pulmonary artery with absent or hypoplastic right ductus arteriosus.
Abnormalities, Drug-Induced↗
Chemical analysis of an angiofibroma from a patient with tuberous sclerosis.
Amino-acid analyses on the acid hydrolysates of an angiofibroma and skin established that the former tissue contained less collagen than skin based on the reduced content of hydroxyproline, glycine, proline and alanine in the tumour. From lysosomal enzyme measurements it became evident that the specific activities of the hexosaminidases, beta-glucuronidase and beta-galactosidase were elevated. Analyses of the alcohol insoluble fraction following pronase digestion revealed that the tumour contained more acidic glycosaminoglycan (AG) than skin as assessed by uronic acid and hexosamine measurements. More outstanding, however, was the seven-fold increase in the total carbohydrate in the AG fraction of the tumour. The overall composition of this fraction was very similar to comparable material from foetal skin except that the tumour fraction contained increased sulphate concentration.
Adult↗
Sudden infant death due to congenital adrenal hypoplasia.
Adrenocortical hypoplasia was found to be the cause of sudden death in a 9-month-old infant. Most sudden infant deaths in the first year of life are related to the sudden infant death syndrome, in which no specific pathologic changes are found at autopsy. Although specific causes for sudden death in infancy are well documented, adrenocortical hypoplasia is not a well-recognized cause of sudden infant death.
Adrenal Glands↗
Uhl's anomaly in the mink. Partial absence of the right atrial and ventricular myocardium.
Congenital marked hypoplasia of the right atrial and ventricular myocardium (Uhl's anomaly), without other cardiac anomalies, was observed at autopsy in a mink. The animal died unexpectedly without previous symptoms at the age of 2 years, suggesting that the cause of sudden death was acute congestive heart failure. This cause demonstrates that this malformation can occur in species other than man. Embryologically, this anomaly might be due to myocardial injury to the right cardiogenic fold at a relatively early stage of embryogenesis.
Animals↗
Glycogen complexes in muscle in Reye's syndrome simulating virus-like particles.
Crystalline arrays of virus-like particles were present in the psoas muscle in six of eight autopsied cases of Reye's syndrome. These structures were concentrated in the perinuclear regions of peripheral muscle nuclei and were less abundant about the triad regions. The particles were stained by histochemical techniques for glycogen, and digestion with diastase resulted in removal of particles from these crystalline lattices. Virus-like particles were also present in crystalline arrays in psoas, quadriceps, and diaphragm muscles in six of eight autopsied cases of children and adults who died of diverse diseases. These configurations of glycogen in muscle appear to occur with the same frequency in various unrelated diseases and may be a cytochemical response to the generalized stress of disease. Recognition of their specific nature is important in differentiating them from viruses, especially in diseases of uncertain etiology.
Child↗
Acrocephalopolydactylous dysplasia.
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Abnormalities, Multiple↗
Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases.
This report describes 12 patients with the Wiedemann-Beckwith syndrome (WBS), including 6 familial cases from 2 families. The clinical manifestations do not allow for a differentiation between familial and sporadic cases. Consistent morphologic features include organomegaly, cytomegaly and nucleomegaly. The pathogenetic process may involve few or many organs and tissues and may represent a nuclear/mitotic dysfunction. Clinically, the manifestations are hyperplasia, hypoplasia, dysplasia, neoplasia and defects in differentiation. Secondary functional disturbances are at times prominent. The differential diagnosis of the WBS includes 1) the Wilm's tumor (WT)-aniridia syndrome: 2) the "tumor-hypertrophy syndrome" which includes WT, adenocortical tumors or hepatoblastoma; 3) the WT-pseudohermaphroditism syndrome; and 4) the "tumor-nevus syndrome" with or without malformations (particularly duplications) of the urinary tract. The latter two conditions are apparently not associated with hemihypertrophy. Familial occurrence suggests that some cases of the WBS may be due to delayed mutation. Carriers of the premutated allele appear to belong to two classes: those with a high risk of producing affected offspring and those who transmit the premutated allele but have no affected offspring.
Abnormalities, Multiple↗
Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants.
Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the young infant include radiolucent coronal clefts dividing all or most of the thoracic and lumbar vertebral bodies, short humeri with flared metaphyses and punctate calcifications commonly present adjacent to the ossified ischial and pubic bones and less commonly in other locations. In late infancy and childhood the radiologic criteria include demineralization in all bones with slow maturation, flat vertebral bodies, short humeri and femora, metaphyseal flaring, especially in the distal humerus, proximal femur and proximal tibia, immature shape of pelvis, and disappearance of the punctate calcifications with advancing age. The histologic changes of the resting cartilage include areas of degenerating cartilage which had become partially calcified, cystic changes with severe disturbance of the maturation of the cartilage at the physial plate, and the formation of cancellous bone directly on resting cartilage. Ultrastructural changes are characterized by degeneration of chondrocytes, delicate collagenous fibrils without visible periodicity, and the presence of flocculent material within greatly distended endoplasmic reticulum.
Bone and Bones↗
The effects of cocaine in the production of cardiovascular anomalies in beta-adrenoreceptor stimulated chick embryos.
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Adrenergic beta-Agonists↗
Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome.
We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome. By coding the degree of severity of the limb defects it was possible to compare these cases quantitatively and to determine the nosologic significance of associated cranial nerve palsies and chest abnormalities. We analyzed 7 personal and 62 previously reported cases and found: 1. that the severity in the upper limbs and, particularly, malformations of the feet, but not the presence or absence of cranial nerve palsies, is a significant feature in the differentiation of cases, and 2. that the group of patients with cranial nerve palsies includes some with limb defects similar to those in the Hanhart syndrome and others with features which overlap the manifestations of the Poland syndrome. Still other cases had cranial nerve palsy as an isolated trait or as a component manifestation of several different syndromes. These findings permit re-definition and nosologic delimitation of the various syndromes as follows: 1. The Hanhart-syndrome: usually severe limb defect of at least one hand or foot, frequently associated with severe oral abnormalities and sometimes also with cranial nerve palsy. Most cases reported as aglossia-adactylia syndrome, aglossia-hypomelia syndrome, and some cases reported as glossopalatine ankylosis, ankyloglossia superior and Mobius syndrome describe instances of the Hanhart syndrome. 2. The Poland-Mobius syndrome: we suggest this term to refer to those cases of "Mobius syndrome" which have a chest defect and/or symbrachydactyly of the type seen in the Poland syndrome. We suspect that these cases of the "Mobius syndrome," and most of the cases which are usually diagnosed as Poland syndrome represent a different spectrum of the same condition, hence the term Poland-Mobius syndrome. 3. The autosomal dominant cleft palate/lateral synechiae syndrome delineated by Fuhrmann et al. and other apparently less frequent conditions are mentioned in the discussion. Cranial nerve palsy obviously occurs in several etiologically distinct conditions. An analogous situation is present, although less obvious, in the Hanhart and the Poland-Mobius syndrome. Both of these conditions are formal genesis malformation syndromes which implies that they are etiologically non-specific developmental field complexes. In the Hanhart syndrome Bersu et al. postulate a common pathogenetic disturbance for oral and limb defects, thus suggesting that the manifestations represent a single anomaly rather than a "syndrome." This anomaly, for which we suggest the term Kettner anomaly, may occur not only in the Hanhart syndrome but also in other conditions. Similarly, the Poland anomaly, i.e...
Abducens Nerve↗
Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology.
A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, persistent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues are related to age of survival and possible development of fibrosis.
Abnormalities, Multiple↗
The rare problem of late recurrence in neuroblastoma.
Two-year disease-free survival is considered highly predictive of therapeutic success with neuroblastoma and death from neuroblastoma greater than 5 years after diagnosis is a rare event. We report of an unusual case of death from neuroblastoma 20 years after diagnosis; a literature review and discussion of this rare phenomenon of late recurrence is also included. Five additional cases of late recurrence, defined as greater than 5 years after diagnosis, were found in the literature with adequate detail to be reviewed. Advanced disease was present at diagnosis in five of six cases; three of six had disseminated disease. No age or sex differences were noted. A peculiar tencency for recurrence during the teenage years, preceded by a long disease-free interval, was also present in all cases, perhaps a reflection of maturational alterations in the immune system or hormonal changes that previously had suppressed extensive disease. This phenomenon of late recurrence in neuroblastoma, albeit rare, adds another facet to the clinical behavior of an enigmatic and therapeutically unyielding childhood tumor.
Adrenal Gland Neoplasms↗