Deficiência de ornitina transcarbamilase: diagnóstico neonatal

Abstract

Objective

To draw pediatricians' attention to an enzyme deficiency in the urea cycle, as the prognosis of this disease is directly related to early diagnosis and treatment. Methods: We describe the case of a newborn who presented with lethargy, vomit and seizures 48 hours after birth. After examination, we diagnosed ornithine transcarbamylase deficiency. Treatment was started immediately. Results: We followed up the patient until he was 1 year old, when he underwent liver transplantation. Outcome was good. Conclusion: Ornithine transcarbamylase deficiency is a rare and very serious disease. Any newborn whose evolution is similar to that of a septic patient but has no infection must be investigated for this disease. Prognosis is directly related to early diagnosis and treatment.

Methods

We describe the case of a newborn who presented with lethargy, vomit and seizures 48 hours after birth. After examination, we diagnosed ornithine transcarbamylase deficiency. Treatment was started immediately. Results: We followed up the patient until he was 1 year old, when he underwent liver transplantation. Outcome was good. Conclusion: Ornithine transcarbamylase deficiency is a rare and very serious disease. Any newborn whose evolution is similar to that of a septic patient but has no infection must be investigated for this disease. Prognosis is directly related to early diagnosis and treatment.

Results

We followed up the patient until he was 1 year old, when he underwent liver transplantation. Outcome was good. Conclusion: Ornithine transcarbamylase deficiency is a rare and very serious disease. Any newborn whose evolution is similar to that of a septic patient but has no infection must be investigated for this disease. Prognosis is directly related to early diagnosis and treatment.

Conclusion

Ornithine transcarbamylase deficiency is a rare and very serious disease. Any newborn whose evolution is similar to that of a septic patient but has no infection must be investigated for this disease. Prognosis is directly related to early diagnosis and treatment.

Resumen

Objetivo

Alertar os pediatras para a deficiência de enzimas do ciclo da uréia. Essa patologia deve ser lembrada, pois o prognóstico do recém-nascido está diretamente relacionado com a precocidade do diagnóstico e a instituição de uma terapêutica adequada.

Método

Apresentamos um paciente que, após 48 horas de vida, iniciou com quadro de sonolência, letargia, vômitos e convulsão, tendo-se pensado, inicialmente, em sepsis neonatal. Após excluído esse diagnóstico, foi diagnosticada deficiência de ornitina transcarbamilase (OTC).

Resultado

O paciente foi tratado e acompanhado até a idade de um ano, quando foi submetido ao transplante hepático com boa evolução e controle da doença.

Conclusão

A deficiência de ornitina transcarbamilase (OTC), é rara, porém muito grave. O recém-nascido que apresentar um quadro clínico semelhante ao de um recém-nascido séptico, porém sem contexto infeccioso, deve ser investigado para essa patologia, pois o prognóstico está diretamente relacionado com a rapidez do diagnóstico e do tratamento.