Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura

Neonatal-onset propionic acidemia neurologic deficit, poor feeding and vomiting - a case report and literature review

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Adriana Montealegre
Erlin Robledo
José Yecid Moreno
Natalia Restrepo
Grégory Alfonso García

Resumen

Paciente pretérmino que reingresa a la unidad de recién nacidos de la Clínica Universitaria Colombia, Bo­gotá DC, por problemas en la alimentación y pobre ganancia ponderal, a quien se le diagnosticó acidemia propiónica mediante cromatografía de ácidos orgánicos en orina. Los errores innatos del metabolismo son entidades que a pesar de tener una baja incidencia, se deben considerar en todo neonato con encefa­ lopatía, problemas en la alimentación o pobre ganancia ponderal, entre otras manifestaciones, ya que el diagnóstico temprano y tratamiento oportuno previenen la aparición de secuelas neurológicas con retardo del desarrollo psicomotor y muerte temprana.

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Referencias

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