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Atypical Clinical Presentation (atypical + clinical_presentation)
Selected AbstractsA case of paroxysmal nocturnal hemoglobinuria presenting with intra-abdominal bleeding due to splenic rupture, developing renal infarctINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 3 2008S. UZUN Summary Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder characterized by intravascular hemolysis, hemoglobinuria, and thrombosis. Thrombotic attacks are life threatening and are responsible for nearly 50% of PNH-related deaths. Compared with thrombotic events, bleeding related to thrombocytopenia in PNH is quite rare. This report describes an atypical clinical presentation with problems in the diagnosis and management of a woman who presented with a splenic infarct followed by massive intra-abdominal bleeding due to splenic rupture. She also developed a renal infarct during hospitalization after diagnosis. [source] False negative biliary scintigraphy in gangrenous cholecystitisJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 1 2002Robyn L Grant SUMMARY Gangrenous cholecystitis is a serious complication of acute cholecystitis and is associated with increased morbidity and mortality rates. We report a case in which the diagnosis was suggested by ultrasound, but cholecystectomy delayed due to atypical clinical presentation and a false negative radionuclide biliary scan. [source] Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood diseaseANNALS OF NEUROLOGY, Issue 2 2001Otto P. Van Diggelen PhD The fluorogenic enzyme assay for palmitoyl-protein thioesterase (PPT) has greatly facilitated the diagnosis of infantile neuronal ceroid lipofuscinosis (Santavuori-Haltia disease) and the search for possible new variants with atypical clinical presentation. Here, we present the first cases of adult neuronal ceroid lipofuscinosis with onset in the fourth decade of life due to a profound deficiency of PPT. The causative mutations in the CLN1 gene were the known, deleterious mutation R151X and the novel missense mutation G108R. Patients presented at onset (31 and 38 years), with psychiatric symptoms only. At present (ages 56 and 54 years), visual, verbal, and cognitive losses have progressed and both patients have cerebellar ataxia and cannot walk without support. [source] Anticardiolipin antibodies are not a useful screening tool in a nonselected large group of patients with multiple sclerosisANNALS OF NEUROLOGY, Issue 3 2001Jaume Sastre-Garriga MD Recent works claiming that primary antiphospholipid syndrome (PAPS) cannot be clinically distinguished from multiple sclerosis (MS) recommend that MS patients be screened for anticardiolipin antibodies (ACA). In this study 296 randomly selected patients with MS and clinically isolated syndromes and 51 healthy controls were analyzed; ACA, anti-,2 -glycoprotein I, or antiprothrombin was found in 6 patients. No predominance of any kind of clinical manifestations and no cardinal manifestations of PAPS were found in these patients. ACA tests should be performed only when a suspicion of PAPS is raised and atypical clinical presentation for MS is found. Ann Neurol 2001;49:408,411 [source] Corticobasal degeneration as cause of progressive non-fluent aphasia: Clinical, radiological and pathological study of an autopsy caseNEUROPATHOLOGY, Issue 6 2006Masaki Takao A Japanese male developed gradual loss of spontaneous speech at age 60. Three years later meaningful speech had deteriorated to the point that it had become restricted to monotonous utterances. Neuropsychological examination at age 62 showed that he had severe non-fluent aphasia. A brain MRI demonstrated mild cortical atrophy with ischemic lesions in the cerebral white matter. He was diagnosed as having primary progressive aphasia. At age 63, he was admitted to the hospital to reevaluate the neurological condition. Neurologic examination showed severe non-fluent aphasia, hyperreflexia, snout and sucking reflexes. No alien hand was observed. He was able to walk, dress, wash himself and use chopsticks as well as name real objects. At age 65, 99mTc-hexamethylpropyleneamine oxime single photon emission computed tomography (HMPAO-SPECT) revealed diffuse cerebral hypoperfusion that was particularly prominent in the left frontal lobe. An MRI showed progressive cortical atrophy with the definite atrophy of the left paracentral gyrus. The hippocampal formation and putamen were also atrophic. He died of pneumonia at age 67. The brain weighed 810 g with atrophy of the frontal lobe, globus pallidus, enlargement of the lateral ventricles and depigmentation of the substantia nigra. Microscopic examination showed severe neuronal loss and gliosis in the cerebral cortex, globus pallidus interna and substantia nigra. Ballooned neurons were observed in the cerebral cortex. Gallyas-Braak method revealed numerous astrocytic plaques and argentophilic threads in the cerebrum. Clinical diagnosis of corticobasal degeneration sometimes is difficult in individuals with atypical clinical presentations. More exact clinical and radiological criteria may warrant a diagnosis of corticobasal degeneration. [source] | ||||||||||