Correlation Between Skeletal Muscle Mass Deficit and Poor Functional Outcome in Patients with Acute Ischemic Stroke.

BACKGROUND AND AIMS: To date, the correlation between sarcopenia, which exists before a stroke, and acute stroke outcome remains partially understood. This study aims to evaluate the skeletal muscle mass deficit using the bioelectrical impedance analysis in patients with acute ischemic stroke. METHODS: We enrolled 164 geriatric patients with acute ischemic stroke (108 males and 56 females) who underwent the bioelectrical impedance analysis. We evaluated clinical outcomes and their impact on patients with the skeletal muscle mass deficit determined using the skeletal muscle mass index. RESULTS: The skeletal muscle mass deficit was obtained using the bioelectrical impedance analysis in 101 patients. Patients with the skeletal muscle mass deficit determined by the skeletal muscle mass index exhibited severe neurological impairment and functional status on admission; moreover, they tended to display poor functional outcome and prolonged hospital stay. Logistic regression analysis revealed that the skeletal muscle mass deficit remained an independent poor outcome predictor. CONCLUSIONS: This study establishes the presence of the skeletal muscle mass deficit in over half patients with acute ischemic stroke. Furthermore, the skeletal muscle mass deficit correlates with neurological impairment owing to stroke with poorer functional prognosis.

Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus.

We present an autopsied case with A8344G-mutated myoclonus epilepsy with ragged red fibers (MERRF)/mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus. A 16-year-old Japanese woman suddenly experienced repetitive consciousness disturbances with increased serum lactate and creatine kinase levels. Magnetic resonance imaging showed abnormal intensity of bilateral precentral gyrus. She was clinically diagnosed as having a mitochondrial disorder and the A8344G mutation was detected in mitochondrial DNA. At 17 years of age, she died from congestive heart failure secondary to a third episode of lactic acidosis. Neuropatho-logically, multifocal laminar necrosis, which is responsible for stroke-like episodes in MELAS, was seen in the frontal cortex including the precentral gyrus, but there was no neuronal loss and gliosis in the basal ganglia, cerebellum, and brainstem, which were compatible with MERRF. Hypertrophy of the vascular smooth muscle and choroidal epithelium were seen, and were strongly visualized by an anti-mitochondrial antibody. Skeletal muscles showed uneven muscular diameters, increased central nuclei, and ragged red fibers (RRFs). Decreased cytochrome c oxidase (COX) activity and strongly succinate dehydrogenase (SDH)-reactive blood vessels were also noted. Stroke-like episodes in MERRF/MELAS overlap syndrome are thought to be rare in the frontal cortex including the precentral gyrus. Only two cases of MERRF/MELAS overlap syndrome with A8344G mutation, including this case, have shown stroke-like episodes in the frontal lobes. Other than the A8344G mutation and frontal lobe involvement, they had a high degree of similarity in terms of presence of RRFs, gastrointestinal dysfunction, and lack of typical MERRF neuropathology. In conclusion, this is an important case describing the clinical spectrum associated with A8344G-mutated MERRF/MELAS overlap syndrome.

Aceruloplasminemia with Abnormal Compound Heterozygous Mutations Developed Neurological Dysfunction during Phlebotomy Therapy.

Aceruloplasminemia is an autosomal recessive inherited disorder caused by ceruloplasmin gene mutations. The loss of ferroxidase activity of ceruloplasmin due to gene mutations causes a disturbance in cellular iron transport. We herein describe a patient with aceruloplasminemia, who presented with diabetes mellitus that was treated by insulin injections, liver hemosiderosis treated by phlebotomy therapy, and neurological impairment. A genetic analysis of the ceruloplasmin gene revealed novel compound heterozygous mutations of c.1286_1290insTATAC in exon 7 and c.2185delC in exon 12. This abnormal compound heterozygote had typical clinical features similar to those observed in aceruloplasminemia patients with other gene mutations.