1/13. pleural effusion caused by prostaglandin E1 preparation. We encountered a case of bilateral pleural effusion associated with prostaglandin E(1) (PGE(1)) preparation. A 75-year-old man underwent replacement surgery for an amputated hand. PGE(1) was administered at 120 micro g/d to maintain circulation after vascularization. From day 7 of administration, respiratory distress developed. On day 12, pleural effusion was observed bilaterally. By discontinuing PGE(1) and improving hypoalbuminemia, pleural effusion resolved rapidly. This is the first case report of PGE(1)-induced pleural effusion; like other drug-induced pleural effusions, discontinuing the drug resulted in rapid improvement. Although a rare complication, pleural effusion has to be suspected when a patient receiving PGE(1) experiences difficulty with breathing. ( info) |
2/13. Preclinical Cushing's syndrome presenting with isolated adrenocorticotropin (ACTH) deficiency-like manifestations and severe hypoalbuminemia without overt adrenal masses in a patient with chilaiditi syndrome and mental retardation. A 52-year-old man with chilaiditi syndrome and mental retardation was admitted to Kanagawa rehabilitation Hospital for severe hypoglycemic coma with malnutrition. This patient was first diagnosed as partial isolated adrenocorticotropin deficiency according to his symptoms and clinical course, but he was finally diagnosed as preclinical Cushing's syndrome. Manifestations of this case seemed unusual in spite of autonomic cortisol secretion and the detailed mechanisms of symptoms were unclear. The present case indicates that preclinical Cushing's syndrome may present with various manifestations, and careful diagnosis is necessary. ( info) |
3/13. Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation. A 14-year-old girl, homozygous for an insertion mutation of aprataxin (APTX), 689 ins T, is described. She presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. The dystonia of this patient suggests involvement of the basal ganglia or thalamus, along with clinical diversity in this disorder. ( info) |
| We report a patient with severe hypertriglyceridemia associated with anemia and hypoalbuminemia, in which the former may have caused the latter two conditions. This is the first reported case of abrupt onset of severe hypertriglyceridemia resulting in suppression of bone marrow and liver function. ( info) |
| valproic acid and its derivatives are commonly administered antiepileptic drugs for children and adults. Five residents at a children's long-term care facility manifested hypoalbuminemia while being administered divalproex, although serum liver function test results and urinalysis results were normal. When the patients were free from valproic acid, the serum albumin levels increased into the normal range (17-30% higher than the serum albumin levels while patients were receiving valproic acid) despite the absence of any dietary changes. Comparing the serum albumin levels for eight residents who received divalproex (3.1 gm/dL /- 0.4 gm/dL) with the serum albumin levels for 13 residents who were not receiving valproic acid or its derivatives (3.8 gm/dL /- 0.2 gm/dL), the difference was significant (P < 0.001). This difference could not be accounted for by nutritional, environmental, laboratory, or urinary causes. In this study, divalproex administration was a contributing factor in the development of reversible hypoalbuminemia in this population of severely disabled, neurologically injured children and young adults. Further studies are required to determine the exact etiology and clinical significance of valproate-mediated hypoalbuminemia. ( info) |
| The protozoan blastocystis hominis has been considered nonpathogenic, but this classification has come under scrutiny in light of reports in the medical literature indicating it could be the cause of intestinal disorders and, in one case, hypoalbuminemia. Reported here is a severe case of infection with B. hominis that caused acute gastroenteritis with prolonged diarrhea, hypoalbuminemia and anasarca. The diagnosis was based on the parasitological finding, since no other pathological evidence was found. The patient responded favorably to treatment with metronidazole for 10 days. This case supports the idea that B. hominis should be considered as a cause of opportunistic infection in debilitated patients despite the controversy surrounding its pathogenicity. ( info) |
7/13. Ataxia with oculomotor apraxia type 1 in Southern italy: late onset and variable phenotype. Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. The causative gene (APTX) has been recently identified in Portuguese and Japanese kindreds. Three patients with AOA1 were identified in an APTX mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy. A novel homozygous missense mutation (H201Q) was found in one patient and a Japanese missense mutation (P206L) in two. AOA1 clinical heterogeneity and onset later than previously described are shown. ( info) |
| OBJECTIVE: anorexia nervosa (AN) is associated with marked decreases in caloric intake and a corresponding reduction in body weight due to abnormal self body image. Although counterintuitive, hypoalbuminemia and vitamin deficiencies are not expected consequences of this disorder. Etiologic considerations for hypoalbuminemia are discussed. METHOD: The case report of a patient with AN and marked hypoalbuminemia is presented and a focused literature review is reported. RESULTS: hypoalbuminemia was initially attributed to starvation. However, occult infection was ultimately responsible. serum albumin concentration normalized with antibiotic therapy despite minimal restoration of body weight. DISCUSSION: hypoalbuminemia should not be considered a characteristic feature of AN even in the setting of progressive weight loss. The presence of other potentially life-threatening conditions should be sought, as reduced serum albumin concentration is a marker of inflammation in AN. ( info) |
9/13. Veno-occlusive disease of the liver associated with chronic myelomonocytic leukemia treated with vincristine and standard doses of cytarabine. A unique case of a 72-year-old man with chronic myelomonocytic leukemia (CMML) who developed hepatic veno-occlusive disease (VOD) after treatment with a single dose of vincristine and standard doses of cytarabine is described. Unexpected peroneal nerve palsy suggestive of vincristine neurotoxicity occurred concurrently and pointed to vincristine as the most likely cause of the VOD. To the best of our knowledge, association between vincristine and hepatic VOD has not been previously described in chemotherapy-naive patients with CMML. ( info) |
10/13. An unusual adverse drug reaction? INTRODUCTION: adult Still Disease (ASD) is a rare (incidence 1-1,6/1,000,000 in europe) seronegative polyarthropathy diagnosed with clinical criteria, excluding other etiologies. minocycline, a semisynthetic derivative of tetracycline, has been associated with many adverse effects. We present the case of a 18-years-old man with a high suspicion of an adverse drug reaction (ADR), that was finally diagnosed of ASD. MATERIAL AND methods: In order to exclude other diseases, laboratory test, radiology and allergological studies were performed. The results of the allergological studies excluded the possibility of an ADR. The rest of the results determined the diagnosis of ASD. CONCLUSION: It's necessary to emphasize the importance of an accurate differential diagnosis in cases like this, because many diseases may mimic an ADR, and may be underdiagnosed (or misdiagnosed). ( info) |