Réplica. Plexitis braquial como manifestación de la arteritis de células gigantes / Reply. Brachial plexitis as a manifestation of giant cell arteritis

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[Acute peritonitis and small bowel diverticula in a patient with mitochondrial neurogastrointestinal encephalomyopathy]. / Peritonitis agudas y divertículos del intestino delgado en una paciente con encefalomiopatía neurogastrointestinal mitocondrial.

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. CONCLUSIONS: In patients with intestinal dysmotility manifestations and jejunal and ileal diverticula neuropathies and myopathies with visceral affection must be suspected, among them MNGIE syndrome.

Peritonitis agudas y divertículos del intestino delgado en unapaciente con encefalomiopatía neurogastrointestinal mitocondrial / Acute peritonitis and small bowel diverticula in a patient with mitochondrial neurogastrointestinal encephalomyopathy

Introducción. Los divertículos del yeyuno y del íleon son lesiones adquiridas que se suelen asociar a trastornos de la motilidad intestinal, como las que ocurren en las miopatías y neuropatías con afectación visceral. La encefalomiopatía neurogastrointestinal mitocondrial (síndrome MNGIE) se caracteriza por dismotilidad gastrointestinal, caquexia, ptosis con oftalmoparesia externa, neuropatía, leucoencefalopatía y evidencia de laboratorio de alteración mitocondrial. Caso clínico. Mujer que desde los 9 meses de edad padecía síntomas digestivos: diarrea, náuseas, vómitos, digestiones lentas y dolor abdominal. Tenía miopía. A los 20 años de edad, en un periodo de siete meses, precisó cirugía abdominal urgente en tres ocasiones por peritonitis aguda difusa relacionada con divertículos en el yeyuno y el íleon. Tenía caquexia, ptosis parpebral ligera, oftalmoparesia externa, nervios auriculares mayores hipertróficos, escoliosis, pies cavos, debilidad e hipoestesia distales en extremidades, hipoacusia neurosensorial bilateral y acidosis láctica. El estudio electroneurográfico era compatible con una polineuropatía sensitivomotora desmielinizante crónica severa. En la RM cerebral se vio leucoencefalopatía. En el tejido muscular se apreció alteración de todas las fibras tipo I con abundantes vacuolas de lípidos y aumento del número de mitocondrias en forma de granos gruesos y de las bolsas mitocondriales subsarcolemales. No se observaron fibras rojo-rotas ni alteraciones ultraestructurales de las mitocondrias. Se detectó un déficit del complejo III de la cadena respiratoria. Conclusión. En pacientes con manifestaciones de dismotilidad intestinal y divertículos de yeyuno e íleon se debe sospechar de neuropatías y miopatías con afectación visceral, entre ellas el síndrome MNGIE (AU)

CT and MRI in iatrogenic and sporadic Creutzfeldt-Jakob disease: as far as imaging perceives.

Creutzfeldt-Jakob Disease (CJD), an invariably fatal dementing illness, affects patients in middle and old age (sporadic form). However, the association of CJD with certain treatments (iatrogenic form) has been described in younger patients. The clinical onset of the two forms seems to differ; in the iatrogenic form a high frequency of the ataxic CJD variant has been reported. Nowadays, a definitive diagnosis of CJD is exclusively histological. We present five cases of CJD, one sporadic and the others iatrogenic, following dura mater grafts and analyse their CT and MRI features. CT typically demonstrates brain atrophy, generally progressive, but in sporadic CJD midfield MRI also showed abnormal signal, with predominant deep grey matter involvement. The use of narrow windows with proton-density sequences may reveal subtle cortical signal abnormalities not clearly visible with conventional windows. The early demonstration of these changes, in the appropriate clinical context, may suggest CJD and this supports the use of mid- or high magnetic fields in the diagnosis of CJD and other forms of dementia. In our cases of iatrogenic CJD, low-field MRI did not reveal more than the progressive atrophy displayed by CT, and raises the question on the one hand of possible differences, based on imaging, from the sporadic form, and on the other of the lack of sensitivity of low-field magnets to signal changes in CJD.