[Show abstract][Hide abstract] ABSTRACT: This is a case report of a 32-year-old woman with chronic severe anemia who developed headaches and seizures 5 days after receiving a blood transfusion of eight units (1600 ml) of packed red blood cells. Magnetic resonance imaging indicated vasogenic edematous lesions bilaterally over the occipital lobes that were consistent with reversible posterior leukoencephalopathy syndrome (RPLS). Her blood pressure was normal, and no other contributing factors for RPLS were found. It is likely that the initiator was the large volume of transfused blood, which disrupted cerebral autoregulation and damaged the vasculoendothelial system. Similar cases of RPLS following transfusion have been reported, and all reports involved middle-aged females with chronic severe anemia who received large volumes of transfused blood within a short period of time. Although blood transfusion is a common procedure with rare neurological complications, great caution should be taken with chronic severely anemic patients because a rapid elevation in hemoglobin may precipitate RPLS.
[Show abstract][Hide abstract] ABSTRACT: Circulating antibodies of the acetylcholine receptor (AchRAb) are detectable in most patients with generalized myasthenia gravis (MG). A newly discovered antibody against muscle-specific kinase (MuSKAb) has been detected in 40-70% of AchRAb-negative MG patients. We report a series of Taiwanese MuSKAb-positive patients, and compare their clinical features with MuSKAb-negative patients and also with MuSKAb-positive Caucasians. Five out of 44 seronegative generalized MG patients (11.4%) were positive for MuSKAb. Patients with MuSKAb tended to have severe disability and bulbar involvement, and more often experienced crisis or impending crisis. Although all of these patients showed an initial response to immunosuppressant therapy, they had greater disability at follow-up. The clinical features of Taiwanese MuSKAb-positive patients were not different from those of Caucasians, except for a lower prevalence.
Journal of the Formosan Medical Association 07/2008; 107(7):572-5. DOI:10.1016/S0929-6646(08)60171-0 · 1.97 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Paralysis periodica paramyotonica is an overlapping disease that shares the features of paramyotonia characteristic of paramyotonia congenita (PC) and periodic paralysis characteristic of hyperkalemic periodic paralysis. We report the case of a 23-year-old man with paralysis periodica paramyotonica. His father and a younger brother also exhibited a similar phenotype. A SCN4A Arg1448Cys mutation was detected in this family. The affected family members exhibited marked shifts in compound muscle action potential amplitudes on exercise test, and muscle weakness could be induced by potassium loading and cold exposure. This case demonstrates that SCN4A Arg1448Cys can produce paralysis periodica paramyotonica. Other genetic or environmental factors may modulate the manifestation of SCN4A Arg1448Cys mutation.
Journal of the Formosan Medical Association 07/2006; 105(6):503-7. DOI:10.1016/S0929-6646(09)60191-1 · 1.97 Impact Factor