Assuntos
Acidose Láctica , Injúria Renal Aguda , Síndrome MELAS , Rabdomiólise , DNA Mitocondrial , Genótipo , Humanos , Rabdomiólise/genéticaRESUMO
We herein present a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), who developed serious acute renal failure with lactic acidosis, followed by rhabdomyolysis. Despite receiving intensive care, he suffered multiple cardiopulmonary arrests and died 10 days after presentation due to a sudden deterioration of his symptoms. Renal pathology revealed diffuse tubular necrosis with interstitial edema and tubular dilatation on light microscopy, and a severe degeneration of intracellular organelles on electron microscopy. These pathological findings could have resulted from multiple cardiopulmonary arrests; however, we must be aware of the extremely rare but sudden occurrence of these fatal conditions in MELAS patients.
Assuntos
Acidose Láctica/mortalidade , Injúria Renal Aguda/mortalidade , Síndrome MELAS/complicações , Síndrome MELAS/mortalidade , Síndrome MELAS/fisiopatologia , Rabdomiólise/mortalidade , Acidose Láctica/diagnóstico , Acidose Láctica/fisiopatologia , Injúria Renal Aguda/fisiopatologia , Adulto , Autopsia , Evolução Fatal , Humanos , Síndrome MELAS/diagnóstico , Masculino , Rabdomiólise/diagnóstico , Rabdomiólise/etiologia , Rabdomiólise/fisiopatologiaRESUMO
Respiratory insufficiency is a critical problem in amyotrophic lateral sclerosis (ALS) patients. We herein present the case of an autopsied patient with sporadic ALS who underwent diaphragm pacing (DP). The pathology showed several localized adhesions with a markedly atrophied diaphragm. A marked loss of motor neurons with Bunina bodies and phosphorylated TDP-43 positive inclusions was found in the spinal cord and primary motor cortex. Mild hyalinization and a few multinucleated giant cells were present around the electrode tracks in the diaphragm. However, no infiltration of inflammatory cells was detected. Our findings suggest that full-time DP might not cause severe damage to adjacent diaphragm tissue.