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Granulocytic sarcoma (chloroma) of the cerebellum and meninges a case report.

A 7-year-old boy, having had headache and vomiting for one month, was operated for a tumour in the left side of the posterior fossa. The tumour, weighing 52 g, infiltrated the dura mater, leptomeninges, and also, superficially, the left cerebellar hemisphere. The patient died five weeks after operation. Light and electron microscopical examination revealed a granulocytic sarcoma (chloroma). Pre- and postoperative blood examinations, together with postoperative and autopsy bone marrow examinations, showed no sign of acute myelogenous leukaemia. This is the second reported case of primary intracranial chloroma with no preceding sign of acute myelogenous leukemia, and the first case with cerebellar infiltration.

Cerebellar Neoplasms

Bilateral simulataneous kidney tumors of dissimilar cell type: a case report with emphasis on operative approach.

The first reported case of bilateral, simultaneous renal tumors of dissimilar cell type treated in a living patient is presented. The operative approach is outlined to support single in situ operative procedures in young patients. A second look laparotomy at 1 year and a creatinine clearance of 60 ml. per minute at 2 years substantiate our enthusiasm for this approach to bilateral renal lesions.

Adenocarcinoma

Nephrolithiasis and nephrocalcinosis after renal transplantation: a case report and review of the literature.

Stone formation in renal allografts is rare. Although infection or renal tubular acidosis can predispose to calcium deposition in a renal allograft, hyperparathyroidism is usually an accompanying factor. Parathyroidectomy is recommended as the treatment of choice when stone deposition or nephrocalcinosis occurs after transplantation. The reported case demonstrates that aggressive therapy is also necessary to eliminate calculi from the urinary system to avoid mechanical obstruction, continued infection or renal paraenchymal damage.

Adult

Compound Heterozygous Hemoglobin Minneapolis-Laos and Codon 41/42 (-TTCT) in a Thai Female Adult: A Case Report and Literature Review.

Thalassemia is a prevalent genetic disorder in Southeast Asia. The Hemoglobin Minneapolis-Laos variant is very rarely reported with only two previously published reports that profile a total of three patients. Here, we present the first reported case of compound heterozygous β zero (β0)-thalassemia and Hemoglobin Minneapolis-Laos in a 46-year-old Thai female. She presented at Siriraj Hospital (Bangkok, Thailand) with chronic microcytic anemia, which is a more severe phenotype than would be expected from either trait alone. Initial hemoglobin electrophoresis via high-performance liquid chromatography and capillary electrophoresis revealed elevated hemoglobin A2 (5.5% and 6.3%, respectively), which is a finding consistent with a β-thalassemia trait, but this finding failed to explain the full extent of her anemia. Next-generation sequencing was then performed to investigate for a congenital red blood cell disorder. The results identified the following two mutations in the β-globin gene (HBB): heterozygous β0-thalassemia codon 41/42 (-TTCT), and HBB c.356T >A, the latter of which is consistent with hemoglobin Minneapolis-Laos. This case highlights the importance of advanced genetic testing to diagnose rare hemoglobin variants that cannot be identified by conventional investigation and further contributes to our understanding of this rare combination's clinical phenotype.

Humans

Labetalol-induced Peyronie's disease? A case report.

Peyronie's disease (induratio penis plastica) has been observed in a 58-year-old man 8 months after initiation of treatment with the new combined alpha- and beta-blocking agent, labetalol. During the last 2 months before onset of symptoms he had received 2400 mg labetalol daily. He showed no other signs of abnormal fibrous tissue production and the ANF test was negative. Cessation of the drug revealed no improvement. Peyronie's disease has also been observed in relation to treatment with propranolol, practolol and metoprolol and might be due to an impaired balance between alpha- and beta-receptors in connective tissue, but there may also be an immunological basis for the fibrosis. A possible coincidence is stressed, as the ages of the reported cases are within the range where this disease most often develops.

Ethanolamines

Double autosomal trisomy: case report (48, XX, +18, +21) and review of the literature.

A twelve-months-old female is reported with double trisomy of the autosomes 18 and 21 (48,XX,+18,+21), exhibiting the clinical features of mongolism. The findings of this patient and the data of fourteen previously reported cases with double autosomal trisomy, twelve of them mosaics, may be summarised as follows: The mean birth weight was lower than in the single trisomies D, E, and G. The distribution of the maternal ages at birth of the patients was striking: six mothers were younger than 21 years, seven mothers were older than 34 years. In those patients with prevalence of one of the two extra chromosomes in their karyotypes, the corresponding trisomy syndrome also predominated clinically. In those cases with an equal proportion of both additional chromosomes there were as many patients with clinical predominance of the one as of the other trisomy syndrome. Survival beyond the second half of the first year of life was seen only in those patients who showed the clinical picture of mongolism.

Birth Weight

Cowden's disease: a case report and review of the literature.

Cowden's disease is one of the rare genodermatoses. The most characteristic findings in this disease are cutaneous and oral lesions that are widespread papillomas and verrucous papules. On the palms the lesions are keratoses. Aside from these findings, this syndrome complex is sooner or later associated with various internal abnormalities involving the mammary, thyroid, gastrointestinal, reproductive and skeletal systems. In the 28 reported cases, 13 cancers have been found, most of the breasts. Because of the characteristic cutaneous and oral lesions, it is possible to recognize this disease early and then to follow afflicted patients closely for the possibility of development of cancers or other abnormalities of other organs.

Adult

Extrauterine mesodermal (müllerian) adenosarcoma. A case report.

Extrauterine mesodermal (müllerian) adenosarcomas have only recently been described, and this is the first reported case from Australia. These tumours fall within the category of common epithelial tumours' in the World Health Organisation (W.H.O.) classification of ovarian tumours and comprise benign looking epithelial structures (glands, papillae) in association with sarcomatous stroma. They are thus distinct from malignant mesodermal mixed tumours in which both epithelial and stromal elements are cytologically malignant.

Adult

Extrapyramidal disorder with pineal germinoma. Case report.

Space-occupying lesions of the basal ganglia are a rare cause of extrapyramidal dysfunction in children. Metastatic pineal germinoma in both basal ganglia produced dystonia in a 12-year-old boy. The literature is reviewed. Extrapyramidal manifestations in the child are compared with previously reported cases of basal ganglia neoplasms.

Basal Ganglia

Cerebral mycotic aneurysm of fungal origin. Case report.

A young man who had a long history of sinusitis developed subarachnoid hemorrhage and died. Autopsy showed a mycotic aneurysm of fungal origin at the junction of the right posterior cerebral and internal carotid arteries. Four of five reported cases of fungal aneurysm were due to Aspergillus infection.

Adolescent

Blau syndrome initially presenting with hypercalcemia: a case report and literature review.

Blau syndrome is a rare granulomatous autoinflammatory disease typically characterized by a triad of polyarthritis, uveitis, and dermatitis. It is caused by either an inherited autosomal dominant pathogenic variant or a de novo pathogenic variant in NOD2. In this report, we present an 11-month-old boy with Blau syndrome who initially presented with calcitriol-mediated hypercalcemia. Severe hypercalcemia was controlled with intravenous fluids, diuretics, calcitonin, and a short course of corticosteroids. Following resolution of the hypercalcemic episode, the patient gradually developed the full clinical spectrum of Blau syndrome, including the classic triad, along with hepatosplenomegaly, lymphadenopathy, and bone marrow involvement. Trio genome sequencing identified a de novo heterozygous pathogenic variant in NOD2. Following the genetic diagnosis, corticosteroids and methotrexate were initiated to control the disease. This is the first reported case of Blau syndrome presenting with hypercalcemia as an initial manifestation, preceding the development of the classic triad. This case underscores the importance of considering Blau syndrome in the differential diagnosis of early-onset hypercalcemia of unknown etiology. Molecular genetic testing should be pursued in such cases to facilitate an accurate and timely diagnosis and appropriate management.

Autoinflammatory disease

Administration of cyclophosphamide during late pregnancy and early lactation: a case report.

Burkitt lymphoma was diagnosed in a patient during the third trimester of pregnancy. Treatment with a low-dose, seven-day course of intravenous cyclophosphamide gave a good response which permitted the pregnancy to be carried to term, with delivery of a normal infant. When the mother received cyclophosphamide during lactation while the baby was breast-fed, the infant's leukocyte and platelet counts were rapidly depressed. Results in this patient and a survey of reported cases in which cyclophosphamide was administered during pregnancy and lactation lead to the conclusions that (1) low-dose intravenous cyclophosphamide therapy is not hazardous to the fetus during late pregnancy; (2) mammary concentration of the drug is too toxic to the infant's bone marrow; and (3) breast-feeding the baby should be suspended during the period the mother is receiving cyclophosphamide treatment.

Adolescent

[Menke's disease. A case report (author's transl)].

A seven month old male with Menkes' disease ("Kinky hair") is presented. Low ranges of copper and caeruloplasmin were found. The angiogram of all intracranial arteries revealed torturous form. Biopsy of an extracranial artery (branch of the temporal artery) was normal. Authors review previously reported cases and possible causes that can contribute to hypomyelination of central nervous system.

Biopsy

[Angioimmunoblastic lymphadenopathy with dysproteinemia. Clinical case report].

The clinico-histologico-biological picture of a recently identified haematological condition distinguished by marked superficial generalized adenomegaly, a typical lymph node biopsy report (lively immunoblastic and angioblastic proliferation, deposits of PAS-positive eosinophil homogenous material) and hypergammaglobulinaemia (polyclonal gammopathy) and defined as angio-immunoblastic lymphadenopathy with dysproteinaemia, is described. On the basis of numerous reported cases and the clinical case in question, the pathogenetic interpretation whereby the condition is considered as a reaction in similar fashion to what is already known for the so-called GvHr (transplant to host reaction), independently of the as yet unknown and perhaps many-sided aetiological factor, is upheld. The condition is substantially benign, although the possibility that it will become malignant cannot be excluded. It is highly sensitive to radiant, cytostatic and cortiocosteroid therapy although there are profound prognostic reservations about its great susceptibility to infections, particularly at respiratory level.

Female

Acalculous clonorchiasis obstructing the common 3ile duct: a case report and review of the literature.

Clonorchis sinensis has a minor incidence in Western countries and most commonly manifests as cholangiohepatitis with secondary bacterial infection. This parasite rarely obstructs the common bile duct without associated biliary stricture, stones or tumor. This paper documents the fourth reported case of acalculous C, sinensis biliary tract obstruction and reviews the world literature.

Adult

Successful surgical correction of an embolized prosthetic valve poppet: case report.

Embolization of a prosthetic valve poppet, a rare complication following valve replacement, has been, until recently, generally fatal. Immediate recognition followed by replacement of the poppet or valve and extraction of the embolized poppet is the only feasible approach. Recently, a patient was seen was seen shortly after the onset of acute pulmonary edema with wide-open mitral regurgitation. A diagnosis of extrusion of the poppet from a previously placed prosthetic valve was confirmed and a successful mitral valve replacement accomplished. The nonradiopaque poppet, subsequently localized by an ultrasound B-sac, was removed from the lower abdominal aorta at a later operation. We believe this to be the second reported case of survival following successful reoperation for embolization of a prosthetic poppet.

Aorta, Abdominal