Gaucher's disease associated with Hodgkin's disease

A patient with chronic adult-onset Gaucher's disease is described. The diagnosis was based on the finding of typical Gaucher cells in the spleen, liver and bone marrow associated with deficiency of glucocerebrosidase. The patient also had Hodgkin's disease, nodular sclerosis type, stage III. The patient is alive and relatively well six years after presentation, having been treated with a combination of chemotherapeutic regimens.Previously reported cases of Gaucher's disease concurrent with Hodgkin's disease are reviewed.     

Pathogenesis of hypertension in Cushing's syndrome

Steroid production, plasma renin activity (PRA) and plasma renin substrate (PRS) were measured in eight patients with hypertension due to Cushing's syndrome of benign origin. Despite elevation of cortisol secretion in all patients, hypokalemia and suppressed PRA was noted in the one subject with a functioning adrenal adenoma. PRA was normal in six patients on an unrestricted sodium intake but was markedly increased in the two patients on low salt diets. PRS was significantly increased during active disease, but decreased substantially with treatment. The absence of uniform hypokalemia and of suppression of renin indicates that mineralocorticold production could not account for the increase in arterial pressure. It is suggested that glucocorticoid-induced hypertension may be initiated by alterations in vascular responsiveness to pressor agents and that elevated PRS levels may contribute to increased angiotensin formation.     

Cardiac failure in Addison's disease

In an average 30 years of follow-up study, seven of 22 patients with primary adrenal insufficiency have had cardiac failure. Comparison of these seven with the 15 who remain free of this complication revealed that the former group were somewhat older and had higher incidences of unrelated cardiac disease and of nonsteroid-dependent hypertension, but that their replacement regimens, with respect to sodium supplementation and sodium-retaining steroids, were identical with the latter. Coincident with the appearance of cardiac failure, all seven patients had a decrease in sodium requirements. Adequate control of the adrenal disease was subsequently possible with elimination of mineralocorticoid support in one of the six who had initially required this therapy and a reduction in dosage in the other five. In all seven, dietary sodium supplements were no longer required. In three patients with severe failure, sodium restriction was imposed and diuretics were added, although the latter therapy has required close monitoring to avoid sodium depletion.     

Waldenström's macroglobulinemia in a patient with a chronic biologic false-positive serologic test for syphilis

Acute and chronic biologic false-positive serologie reactions for syphilis (VDRL) have been associated with a variety of diseases. Several investigators emphasize that false-positive VDRL titers are usually very low. This report describes a 73 year old man with Waldenström's macroglobulinemia. The biologic false-positive serologic test for syphilis was recognized 33 years before the diagnosis of Waldenström's macroglobulinemia was made. VDRL titers were as high as 1:8192 and 1:32,000 during exacerbations of the macroglobulinemia. A biologic false-positive serologic test for syphilis is frequently associated with an elevated immunoglobulin M (IgM) level. It would be interesting to search for a relation between biologic false-positive serologic tests for syphilis and diseases characterized by monoclonal gammopathies.     

Methyldopa hepatitis: A report of six cases and review of the literature

Six cases of methyldopa hepatitis, including two in which the patients died are reported; and 77 cases from the literature are reviewed. Patients in whom severe hepatotoxic reactions to methyldopa develop usually complain of prodromal symptoms typical of hepatitis, often with fever, one to four weeks after therapy is initiated. Jaundice, when it occurs, is usually manifest within three months.

Asymptomatic, transient elevations of serum transaminase levels may occur in patients receiving methyldopa. However, since the clinical and histologic features of hepatic injury from methyldopa are indistinguishable from viral hepatitis, it is suggested that the incidence of this iatrogenic disease is higher than generally appreciated.

Serum transaminase levels should be determined at the initiation of therapy with methyldopa and four weeks later. Moreover, any patient who has unexplained fever or the prodromal symptoms of hepatitis should undergo liver chemistry studies immediately.     

Morbidity of staging laparotomy in Hodgkin's disease

The morbidity of exploratory laparotomy and splenectomy in Hodgkin's disease was determined at three institutions—a university hospital, a major university affiliated hospital and a large community hospital. Of the 90 patients who underwent exploratory laparotomy, 33 (37 per cent) sustained a major or minor complication within two weeks of surgery. Seventeen patients (19 per cent) sustained a minor complication and 16 patients (18 per cent) a major complication. There was no mortality. A higher complication rate occurred in patients more than 28 years of age (p = 0.01), and in patients with advanced clinical stage when age was controlled (p = 0.05). We suggest that prior to performing an exploratory laparotomy in a given patient, the necessity of the procedure be weighed against its potential hazards.     

Rotor's syndrome: A distinct inheritable pathophysiologic entity

Urinary total, isomer I and isomer III coproporphyrin excretion was determined in 11 patients with Rotor's syndrome, 23 phenotypically normal family members, 16 patients with the DubinJohnson syndrome and 20 normal control subjects. Control subjects excreted 24.8 ± 1.3 per cent (mean SEM) of urinary coproporphyrin as isomer I. Patients with the Dubin-Johnson syndrome excreted 88.9 ± 1.3 per cent as urinary coproporphyrin I, and patients with Rotor's syndrome excreted 64.8 ± 2.5 per cent as urinary coproporphyrin I, significantly different from the control subjects and the patients with the Dubin-Johnson syndrome (p < 0.001). Eight phenotypically normal parents and children of patients with Rotor's syndrome excreted 42.9 ± 5.4 per cent as urinary coproporphyrin I, intermediate between results in patients with Rotor's syndrome and control subjects (p < 0.001). Total urinary coproporphyrin excretion was markedly increased in patients with Rotor's syndrome (332 ± 86 μg/g creatinine) as compared to that in control subjects (p < 0.001) or obligate heterozygotes (p < 0.025).With respect to urinary coproporphyrin excretion, Rotor's syndrome and Dubin-Johnson syndrome are both inherited as autosomal recessive traits and are separate pathophysiologic entities. Study of rare but distinct inheritable disorders, such as these, provide insight into the functional dissociation of hepatic transport mechanisms.     

Hepatocellular carcinoma, transfusion-induced hemochromatosis and congenital hypoplastic anemia (Blackfan-Diamond syndrome)

A 25 year old patient with congenital hypoplastic anemia (Blackfan-Diamond syndrome) is described. This patient was hepatitisantigen negative, had not received androgens and had a hepatoma develop in a transfusional hemochromatotic liver. Since androgens have been associated with hepatocellular carcinoma, the use of androgenic steroids for other than life-threatening symptoms in this disease should be avoided.     

A nationwide outbreak of Reye's syndrome: Its epidemiologic relationship to influenza B

Between December 15 and June 30, 1974, 379 cases of confirmed Reye's syndrome were reported to the Center for Disease Control. Of these, 316 occurred during February and March 1974. A simultaneous surveillance system for influenza B indicated that this clustering of cases of Reye's syndrome correlated both temporally and geographically with influenza B outbreaks. The incidence of Reye's syndrome was higher in rural than in urban centers. Epidemiologically, two groups of cases of Reye's syndrome emerge: those which occur in older children (median age 11 years), cluster in time and geographic region, and are associated with antecedent influenza B infection; and those which occur sporadically throughout the year, are isolated in occurrence, occur in younger children (median age 6 years), and are associated with a wide variety of antecedent viral illnesses.     

The malignant potential of the dysgenetic germ cell in Klinefelter's syndrome

We report two cases of extragonadal germ cell tumors in patients with Klinefelter's syndrome and review the other cases of germ cell tumors reported in this syndrome. Especially in choriocarcinoma, the presence of Klinefelter's syndrome may be overlooked because of the similar clinical presentations and testicular histology. We recommend karyotypes be carried out in patients with germ cell tumors since the dysgenetic gonad of Klinefelter's syndrome may be important in the pathogenesis of these malignancies. Also patients with Klinefelter's syndrome should be followed closely because of their increased risk of development of germ cell tumors.     

Sporothrix schenckii meningitis in a farmer with Hodgkin's disease

A fatal case of chronic meningeal sporotrichosis occurring as an opportunistic infection in a patient with Hodgkin's disease is presented. A pulmonary source of infection was identified at autopsy. The diagnostic importance of the isolation of Sporothrix schenckii from cerebrospinal fluid, even if only from a single specimen, is stressed.     

Goodpasture's syndrome: Failure of nephrectomy to cure pulmonary hemorrhage

Two patients with Goodpasture's syndrome are described. The diagnosis was typical both on clinical and pathologic evidence. Both patients presented with pulmonary symptoms with hemoptysis and suffered from rapidly progressive and irreversible glomerulonephritis. Histologic study of the lungs in one patient demonstrated extensive intra-alveolar hemorrhage. Histologic examination of the kidneys in both patients disclosed changes of rapidly progressive glomerulonephritis with epithelial crescents. Immunofluorescent studies showed linear staining of the glomerular capillary basement membrane with (IgG) and (C′₃). Bilateral nephrectomy was carried out in both patients in an attempt to control the pulmonary manifestations. There was no improvement in the first patient and he died 2 days after the operation. The nephrectomy has not prevented recurrence of the pulmonary hemorrhage in the second patient in whom the lungs were less severely diseased; he is maintained on longterm hemodialysis, and the pulmonary disease is best controlled by corticosteroids. Bilateral nephrectomy is not always as successful as has been claimed in previous reports.     

Mycobacterium avium infections in man

A disseminated infection with Mycobacterium avium, serotype 1, is described in a 63 year old woman with reticulum cell sarcoma. The organism was demonstrated in vivo in lymph nodes, bone marrow, urine and sputum, and at autopsy within an intraocular abscess.Previous reports of human infections with Myco. avium describe cases of chronic, cavitary pulmonary disease, frequently occurring in patients with pneumoconiosis, cervical lymphadenopathy in children, and disseminated infection. Infected birds and mammals, and soil rich in bird droppings appear to constitute natural reservoirs of infection. However, extensive exposure to birds or the carcasses of slaughtered animals has been documented in only a minority of cases.Myco. avium can be reliably identified only by serotyping or by inoculation into chickens, rabbits and guinea pigs. Skin tests with avian purified protein derivative together with standard purified protein derivatives and antigens prepared from other mycobacteria may be helpful in diagnosis prior to isolation and identification of the organism. Although localized infections have apparently been cured by surgical excision, more extensive infections have been reported to be progressive or fatal and have responded poorly to chemotherapy.     

Cyclic cushing's syndrome

Cyclic Cushing's syndrome is a rare but increasingly recognized disorder of periodic fluctuations of adrenal steroid production. A case of cyclic Cushing's syndrome due to a pituitary adenoma is described. The patient demonstrated a prolonged cycle length of approximately six months, during which a spontaneous remission occurred both clinically and biochemically. Previously documented cases of cyclic Cushing's syndrome are reviewed, and the pitfalls in interpretation of results of dexamethasone suppression testing in the presence of spontaneous fluctuations in cortisol production are discussed.