Journal of the neurological sciences
-
m.3243A>G mutation in mitochondrial DNA is the most common pathogenic point mutation, causing a variety of phenotypes. To further elucidate its clinical characteristics, we recruited 47 Chinese families carrying m.3243A>G mutation and analyzed their symptoms, disease history, inheritance, and mitochondria-related complications. ⋯ In the probands, the mutation ratio in blood was threefold higher and the ratio in urine was twofold higher than those of their mothers. m.3243A>G mutation ratio in mothers' urine and in their probands' blood were weakly correlated. In conclusion, (a) stroke-like episode induced by m.3243A>G mutation may be the symptom predominantly found in older patients; (b) m.3243A>G mutation ratio correlates with the severity of the disease; (c) m.3243A>G mutation ratio in mothers' urine may correlate to the ratio in blood in their offspring.
-
Case Reports
Progressive encephalomyelitis with rigidity and myoclonus preceding otherwise asymptomatic Hodgkin's lymphoma.
Stiff-person syndrome (SPS), a rare neuroimmunological disorder, is characterized by symmetrical rigidity and muscle stiffness, particularly of axial and proximal limb muscles. Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a variant of SPS which includes additional clinical features (e.g. sensory symptoms, brain stem signs and pathological CSF findings). ⋯ Here, we present a case of PERM associated with HL, with PERM preceding occurrence of lymphoma by more than seven months. Our observation has obvious implications for the management and, in particular, diagnostic evaluation of patients with PERM.
-
A 60-year-old woman presented with a 1-week progressive limb weakness and an areflexic tetraparesis. Both neurophysiological and cerebrospinal fluid examinations were consistent with diagnosis of Guillain-Barré syndrome (GBS) and a treatment by intravenous immunoglobulin over a 5-day period was started. At the end of the treatment, the patient suffered from an acute coronary syndrome (ACS) without stenosis at coronary arteriography. ⋯ This observation supports clinical evidence that electrocardiographic changes in GBS can be linked to Takotsubo syndrome, by means of the stressful trigger of GBS occurrence. This reversible cardiomyopathy needs adequate management and specific therapeutic strategies. Therefore, trans-thoracic echocardiography should be systematically performed when repolarisation abnormalities are present in this disease to rule out a Takotsubo syndrome, even in asymptomatic patients.