Home » 2026 » Volume 57 - Number 1 » Acute cerebellar ataxia in a patient with maple syrup urine disease: a case report
Carolina Castro 1, Patrícia Lipari Pinto 2, Inês Carneiro 3, Patrícia Janeiro 2, Joana Coelho 4, Fátima Furtado 5, Sofia Quintas 6, Ana Gaspar 2
1 Serviço de Pediatria Médica, Departamento de Pediatria, Hospital de Santa Maria – Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal; 2 Unidade de Doenças Metabólicas, Departamento de Pediatria, Hospital de Santa Maria – Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal; 3 Serviço de Neuroradiologia, Departamento de Imagiologia, Hospital de Santa Maria – Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal; 4 Unidade de Neurologia Pediátrica, Serviço de Pediatria Médica, Unidade Local de Saúde de Santa Maria, Lisbon, Portugal; 5 Serviço de Pediatria, Unidade Local de Saúde do Baixo Alentejo, Beja, Portugal; 6 Unidade de Neuropediatria, Departamento de Pediatria, Hospital de Santa Maria – Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal
Carolina Castro, Patrícia Lipari Pinto, Inês Carneiro, Patrícia Janeiro, Joana Coelho, Fátima Furtado, Sofia Quintas, Ana Gaspar
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*Correspondence: Ana Gaspar, Email not available
Introduction: Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism, potentially resulting in metabolic intoxication crises accompanied by neurological manifestations. Case report: This article reports a case involving a six-year-old boy with MSUD who developed a post-infectious neurological disorder following COVID-19. Initially presenting with fever, cough, and ataxia, he was diagnosed with a metabolic crisis due to COVID-19. Despite an initial recovery, the patient experienced a relapse characterized by ataxia, tremor, and dysarthria, necessitating readmission. A subsequent investigation ruled out an MSUD crisis. A lumbar puncture and MRI failed to rule out a demyelinating acute disorder. Methylprednisolone treatment yielded no improvement, prompting the initiation of intravenous immunoglobulin, which led to improvement after 14 days. Discussion: The case posed challenges due to the overlapping symptoms between MSUD crises and post-infectious neurological conditions. This highlights the complexity of managing these patients, particularly due to the potential for more vigorous manifestations and slower recovery.