Diabetes mellitus en contexto de enfermedad mitocondrial fenotipo Kearns-Sayre Palabras clave ▻ Diabetes mellitus ▻ Enfermedad mitocondrial ▻ Síndrome de Kearns-Sayre Keywords ▻ Diabetes mellitus ▻ Mitochondrial disease ▻ Kearns-Sayre syndrome
ResumenPaciente de 36 años con antecedente de diabetes mellitus, sordera neurosensorial y retinosis pigmentaria que tras consulta por ptosis palpebral de larga evolución y debilidad muscular progresiva es diagnosticada de miopatía mitocondrial fenotipo Kearns-Sayre. En dicho síndrome, es muy frecuente la aparición de endocrinopatías basadas en el déficit de energía para la secreción hormonal. La paciente fallece tras múltiples episodios de insuficiencia cardíaca por afectación miocárdica, siendo más frecuente en este síndrome la afectación de las fibras de conducción.Abstract 36 years old female patient with history of diabetes mellitus, sensorineural hearing loss and pigmentary retinosis. She was diagnosed of mitochondrial myopathy, phenotype Kearns-Sayre syndrome after consulting for long-term palpebral ptosis and progresive muscle weakness. Endocrinopathies are frecuent in this syndrome, based on energy deficit for hormonal secretion. She passed away after multiples heart failure episodes because of miocardial afection, though typical afection in Kearns-Sayre syndrome is on branch conduction pathaways.
LEARNING POINT FOR CLINICIANS
Hypertrophic pachymeningitis (HP) is characterized by a thickening of the dura mater that in some cases has been related to systemic diseases. Some hearing loss may be the first clinical manifestation of PH as a form of ANCA-positive vasculitis limited to the brain. Treatment with rituximab appears to be a good therapeutic option for these cases.
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