Neurologia.com es una comunidad de conocimiento alrededor de la neurología en habla hispana, compuesta por millones de profesionales, desde estudiantes a instituciones médicas o académicas. Esta comunidad se dota de diferentes herramientas de interrelación y difusión del conocimiento en neurociencia
Acute peritonitis and small bowel diverticula in a patient with mitochondrial neurogastrointestinal encephalomyopathy
INTRODUCTION. Jejunal and ileal diverticula are acquired lesions that are often associated with intestinal motility disturbances like those occurring in myopathies and neuropathies with visceral affection. Mitochondrial neurogastrointestinal encephalomyopathy is characterized by gastrointestinal dysmotility, cachexia, ptosis with external ophthalmoparesis, neuropathy, leukoencephalopathy and laboratory evidence of mitochondrial alteration. CLINICAL CASE. A female patient that since 9 months age presented digestive symptoms: diarrhea, nauseous, vomits, slow digestions and abdominal pain. She had myopia. At the age of 20, in a seven months period, she precised urgent abdominal surgical intervention in three occasions for acute diffuse peritonitis related to jejunal and ileal diverticula. She presented cachexia, mild palpebral ptosis, external ophthalmoparesis, hypertrophic major auricular nerves, scoliosis, pes cavus, distal weakness and hypoesthesia in extremities, bilateral neurosensorial hypoacusia and lactic acidosis. The electroneurographic study was compatible with severe chronic demyelinating sensitive-motor polyneuropathy. In the cerebral MR leukoencephalopathy was detected. In muscular tissue it was seen alteration in all fibers type I with numerous lipid vacuoles and an increase of mitochondrial number in the form of thick grains and subsarcolemmal mitochondrial bags. There was no ragged-red fibers nor ultrastructural mitochondrial alterations. There was chain respiratory complex III deficiency.