BACKGROUND: Cardiorespiratory deterioration is common in very low birth weight (<1500g) infants. This period of critical brain growth and development may be impacted by insults such as sepsis and hypoxia. The physiological response to illness manifests through autonomic signaling and is detected as changes in heart rate (HR) and oxygenation (SpO 2 ). We hypothesized that limited autonomic activity and reactivity may indicate poor cardiovascular autoregulation, increasing the risk of cerebral hypoxic-ischemia, the fundamental basis for
Introduction: Myotonic dystrophy type 1 (DM1) is an autosomal dominant condition which phenotype can be extremely variable considering its multisystem involvement, including the central nervous system. Neuromuscular findings are facial and distal extremities muscle weakness, muscle atrophy and myotonia. Standard diagnosis is obtained with molecular testing to detect CTG expansions in the myotonic dystrophy protein of the kinase gene. Brain magnetic resonance imaging typically shows characteristic subcortical white matter (WM) abnormalities located within anterior temporal lobes.Case Report: We present a 39-year-old male patient with a progressive external ophthalmoplegia, facial and limb muscle weakness, percussion myotonia and atypical brain magnetic resonance imaging findings, showing confluent brainstem WM lesions, affecting the pons, a rare radiologic feature in this disorder. Genetic testing confirmed the diagnosis for DM1.
Conclusion:This presentation with external ophthalmoplegia and brainstem WM loss in DM1 can show an important correlation with clinical findings and have an important diagnostic and prognostic value.
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