Abstract

August 2015 e143 scores: 10 all the time. Weight, size, and cranial perimeter were normal. For the third month there was a major psychomotor retardation with convulsive encephalopathy. He had amblyopia with major alteration of visual and auditory evoked potentials. At 5 years old, a MRI displayed diffuse cortico-subcortical atrophy, major lesions of putamen and thalamus. MR spectrometry: increase in lactate in putamen, and fluctuations in N-acetyl aspartate decreased in putamen and increased in parietal–occipital cortex. De novo genetic abnormality could be characterized: microduplication (1.2–3 Mb) in chromosome 1q21.1. Epilepsy was treated with valproic acid 520 mg/d, Gabapentin 1000 / day, Levetiracetam 900 mg/d (usual doses for the weight). The child had few surgical interventions for gastrostomy and dental extractions. Last anesthesia was made by sufentanyl and propofol; 1 hour after lack of spontaneous breathing despite the injection of naloxone. He suffered of episodes of hypoventilation with hypercapnia but can be slowly weaned respirators; and returned home at postoperative D6; the days after appeared anarchic respiration and he was again admitted to pediatric intensive care. The neurological exploration confirms the failure of the respiratory drive. His status gradually worsens and the child died 6 weeks later. Postoperative apnea was considered not related to epileptic equivalents and neither linked to opiate or sedative overdose. Conclusion: several weeks before the final brainstem failure drug induced apnea revealed the final phase of this encephalopathy whose etiology remains unknown.

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