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CASE REPORT: CERVICAL DYSTONIA ASSOCIATED WITH L2-GLUTARIC ACIDURIA (L2HGA)

RESUMO

Case Presentation: A 38-year-old female patient, daughter of consanguineous parents, seeks neurological care with complaints of worsening gait and seizures. During childhood, she presented learning disabilities and regression in developmental milestones, besides frequent falls and fainting. From 32 years of age on, he reported repeated episodes of seizures and gradual worsening of gait, requiring a wheelchair. Recently, he complains of episodes of behavioral arrest. On physical examination, he presents cervical dystonia in laterocollis, atetotic movements in the left upper limb, and stereotyped open-closed movements in both hands. Magnetic resonance imaging of the skull showed leukodystrophy and ventricular dilatation. He has a previous diagnosis of Dandy-Walker syndrome. Finally, genomic analysis was performed, with identification of homozygosity in L2HGDH gene and diagnosis of L-2-Hydroxyglutaric aciduria. Development: L2HGA is an autosomal recessive neurometabolic disorder caused by a deficiency of L-2-hydroxyglutarate dehydrogenase due to homozygous or heterozygous mutations in the L2HGDH gene. The symptoms are developmental and cognitive retardation, seizures, gait problems, as there are cerebellar findings in symptomatic patients such as ataxia, dyskinesia presented by the patient. However, acute metabolic decompensation and rapid neurological deterioration is usually not common. In patients with L2HGA, worsening gait/balance, altered consciousness and seizures, incipient headache may be indicative of brain tumors.Movement disorders are unusual, atetosis is related to loss of neurons and proliferation of astrocytes in the caudate and putamen, as well as markedly reduced gamma-aminobutyric acid and glutamate decarboxylase activity. Dystonia and dyskinesia, on the other hand, occur due to inhibition of neuronal glutamate decarboxylase by glutaric acid with decreased biosynthesis of gamma-amino-butyric acid. Among the neuroradiological findings, cerebral and cerebellar atrophy as the disease progresses. As for treatment, riboflavin to increase FAD levels and carnitine as regulator of DNA damage. Final comments: The authors describe a rare case of toxic accumulation of L-2-hydroxyglutarate causing movement disorder: cervical dystonia in laterocollis and atetosis in the upper limbs, with impaired quality of life.

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