Enid F. Gilbert

Metastases of cancer to cancer

An unusual case of metastasis of cancer to cancer is reported. The initial malignancy, an adenocarcinoma of the kidney (hypernephroma), was found to have widespread metastases involving the lungs, liver, spleen, left adrenal gland, stomach and small intestine. A primary undifferentiated bronchogenic carcinoma originating in the right mainstem bronchus also existed with widespread metastases to the mediastinal lymph nodes, left lung, liver and left kidney with secondary deposits within the sites of the metastatic hypernephroma. A review of the literature is presented and indicates that in most of the reported cases an instance in which both malignancies display widespread metastases is exceedingly rare as is the occurrence of metastases to the metastases, as most situations involve metastasis to the second primary tumor.

Hypomelanosis of Ito(incontinentia pigmenti achromians)-A clinicopathologic study:macrocephaly and gray matter heterotopias

We studied a boy with macrocephaly, hypotonia, pigmentary retinopathy, unilateral whorled hypopigmented skin lesions, and seizures. Skin biopsy confirmed the clinical diagnosis of hypomelanosis of Ito. Postmortem examination at age 22 months revealed a severe neuronal migrational defect that altered the cerebral cortex architecture of white matter. There were many gray matter heterotopias characterized by altered neurons and giant cells. Electronmicroscopy revealed the astrocytic nature of the giant cells. Embryologic migration of both melanoblasts from neural crest and cortical neurons occurs in the second trimester, suggesting a common mechanism for the developmental pathology of skin and brain.

Generalized arterial fibromuscular dysplasia and myocardial infarction in familial supravalvular aortic stenosis syndrome

Postmortem examination of two infant sisters with findings of the supravalvular aortic stenosis syndrome revealed generalized fibromuscular dysplasia of the major systemic arteries and of the entire pulmonary trunk, without any supravalvular narrowing of the aorta. Many infarcts of the myocardium, both old and recent, were found in both patients. The vascular lesions were strikingly similar to those found in the rubella syndrome and in fibromuscular dysplasia of the renal arteries.

Pompe's disease

POMPE’S DISEASE (glycogenosis type 11) , a glycogen storage disease associated with deficiency of acid maltase (alpha 1-4 glucosidase),’ is characterized by accumulation of glycogen in various tissues, including skeletal muscle, heart, and cells of the central nervous system2-5 The disorder becomes apparent in early infancy, with death usually occumng in the first year of life. The most striking clinical features are large firm hypotonic muscles, cardiomegaly with congestive failure, and pathologic central nervous system signs. Recently, attention has been focused upon a less typical group of patients with Pompe’s disease in whom survival has been much longer, extending into the second decade of life, and in whom cardiac involvement has been less p r ~ m i n e n t . ~ . ~ The clinical, electromyographic, angiocardiographic, and pathological findings in an infant with the more classical type of Pompe’s disease will be presented. Few reports have been published showing results of electromyography in patients with this disorder.3+10 The electromyographic findings in our patient will be seen to correlate well with clinical manifestations and with histological findings in spinal cord, nerve roots, and muscle. Attention in the past has been directed to the heart and to cardiac failure as the leading cause of death (Pompe’s disease is often called glycogen storage disease of the heart) .11-17 The concomitant overwhelming accumulation of glycogen which may take place in the central nervous system has not been fully appreciated.

Thymoma, plasma cell myeloma, red cell aplasia and malabsorption syndrome

Abstract Described herein is a sixty-nine year old woman who had a thymoma associated with a multitude of immunologic deficiency diseases including pure red cell aplasia, multiple myeloma, malabsorption syndrome and the presence of antimuscle antibodies. This appears to be the first case in which a complete spectrum of immunologic deficiency diseases has occurred and thus has provided an opportunity to analyze the therapeutic response and to speculate on the possible mechanisms involved.

Clinical and extraneural histologic diagnosis of neuronal ceroid‐lipofuscinosis

Neuronal ceroid-lipofuscinosis is manifested by visual and intellectual deterioration and seizures. Autofluorescent lipopigments are found in neural and many nonneural tissues, with characteristic staining and ultrastructural properties. Presumptive diagnosis can usually be made on the basis of history, physical examination, and electrodiagnostic tests, but in the absence of a specific biochemical defect, histologic confirmation is essential. A 6-year-old boy with the clinical appearance of the juvenile form of the disease had sea-blue histiocytes in the bone marrow. And curvilinear profiles in ultrastructural inclusions in skin biopsy tissue, cultures skin fibroblasts, and bone marrow cells.

Hemorrhagic renal necrosis in infancy: Relationship to radiopaque compounds

Three infants with hemorrhagic renal necrosis are reported; each of them prior to death had received intravenous administration of radiopaque compounds varying in dosage from 1 ml. to 3 ml. per kilogram of body weight

The hypoplastic right heart complex: Clinical, hemodynamic, pathologic and surgical considerations

Abstract The term hypoplastic right heart complex is proposed to define a diversity of anomalies of the right ventricle and the tricuspid and pulmonary valves. Based on the angiocardio-graphic and pathologic findings in 10 patients, the cases were divided into four types: Type I, moderate-sized right ventricular cavity (functioning right ventricle), moderate tricuspid stenosis, well formed pulmonary valve but with orifice either stenotic or atretic (4 cases). Type II, small right ventricle (nonfunctioning), rudimentary tricuspid valve and atretic pulmonary valve (3 cases). Type III, same as type I but in association with ventricular septal defect (2 cases). Type IV, isolated hypoplasia of the right ventricle (1 case). The patients ranged in age from a few days to 10 months. Cyanosis, with or without congestive heart failure, was present in all. The electrocardiogram was not characteristic. Hemodynamic studies were available in 5 patients. The right ventricular pressure was higher than systemic pressure in type I, slightly elevated in type II and normal in type IV. A large diastolic gradient was measured across the tricuspid valve in types I and II. In type III no studies were available. The angiocardiogram was of prime value in differentiating among the four types. Successful surgical management depends on an accurate delineation of the various malformed structures.

Chromosomal puffs in Drosophila induced by hydrocortisone phosphate.

Summary Hydrocortisone phosphate has been shown to induce many puffs in the salivary gland chromosomes of Drosophila melanogaster. The left arm of chromosome 3 and the right arm of chromosome 2 were analyzed in detail. In these arm specific puffs were induced in late third instar larvae.

Hemangiopericytoma of the stomach

Abstract A case of gastric hemangiopericytoma has been reported in which diagnosis was established by emergency operation in the presence of massive upper gastrointestinal bleeding. The clinical and pathologic features of this unusual tumor have been briefly presented. Hemangiopericytoma is a tumor that should be kept in mind in the differential diagnosis of upper gastrointestinal bleeding in patients who on radiologic examination demonstrate the presence of smooth intraluminal filling defects in the body of the stomach. In the limited experience reported so far, partial gastric resection has been an effective form of treatment.