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Neuroimaging Evolution in a Patient With Type 1 Glutaric Aciduria in Treatment Since 7 Months of Age



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SAGE Publishing


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Introduction: Glutaric aciduria type 1 is a leukodystrophy. The MRI features can be characteristic and help to establish an early diagnosis. Objectives: A clinical and IRM correlation is performed chronologically after the initiation of the treatment. A direct relationship between imaging and clinical findings has not been described. The IRM evolution and clinical correlation of a patient in current treatment is described since 7 months of age, after presenting his first metabolic crisis. Clinical Course: Macrocephaly at birth, first metabolic crisis at 4 months, dystonia, and previously acquired motor abilities regression. At 7 months, cerebral IRM frontal and opercular hypoplasia with temporal arachnoid cysts, bilateral periventricular leukoencephalopathy, hyperintensity in striated nucleus (t2) were present, hence biochemical confirmation of the diagnosis. Treatment with GAC Med A (formula with free lysine amino acids, low tryptophan), at second year GAC Med B, l carnitine, riboflavin, metabolic rescue treatment with d Ribose 16 months resulted in cerebral parenchyma volume loss, leukoencephalopaty progression, and unchanged basal nucleus. At 3 years, epileptic crisis during a febrile episode was observed. No neuroimaging deterioration was observed. Progressive acquisition of motor development, independent walking, and generalized moderated dystonia. Cognitive and language function are normal as well as nutritional status weight and height. Monitoring has been performed with amino acid and acylcarnitines measurements by mass spectrometry in tandem. Conclusion: After first metabolic crisis, leukodystrophy, and changes in the striated nucleus signal were observed. In the following 2 years, leukodystrophy showed slow progression but the basal nucleus lesions remain equal. Clinically, there is a progressive improvement in the neurodevelopmental motor parameters at 3 years of age, without cognitive deficit or dystonia deterioration
Palabras clave
Neuroimaging , Type 1 Glutaric , Treatmen