Type 1 Tyrosinemia in an infant

Authors

  • Pablo Antonio Hernández Dinza Hospital Infantil Sur “Dr. Antonio María Béguez César”, Universidad de Ciencias Médicas. Santiago de Cuba http://orcid.org/0000-0003-4417-7652
  • Carlos Ascanio Rodríguez Hospital Infantil Sur “Dr. Antonio María Béguez César”, Universidad de Ciencias Médicas. Santiago de Cuba
  • Odelinda Acosta Camacho Hospital Infantil Sur “Dr. Antonio María Béguez César”, Universidad de Ciencias Médicas. Santiago de Cuba

Keywords:

nursing infant, innate change of metabolism, tyrosinemia, Intensive Therapy Service.

Abstract

The case report of a 2 months of age patient is described who was born at term and normal in weight; she fed with exclusive breast feeding and she had a history of 2 previous admissions (severe anemia and common cold). She was hospitalized in the Intensive Therapy Service of "Dr. Antonio María Béguez Caesar" Southern Pediatric   Hospital  due to widespread edemas and ascites, with a fast clinical course to an acute liver failure. The metabolic tests of urine and blood allowed to confirm the diagnosis of type 1 tyrosinemia. In spite of offering her the required care, the patient had an unfavourable clinical course. 

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Author Biographies

Pablo Antonio Hernández Dinza, Hospital Infantil Sur “Dr. Antonio María Béguez César”, Universidad de Ciencias Médicas. Santiago de Cuba

  1. Máster en Enfermedades Infecciosas. Especialista de Primer Grado en Pediatría. Asistente. Diplomado en Cuidados Intensivos Pediátricos. Hospital Pediátrico Docente Sur Antonio María Beguez Cesar. Santiago de Cuba. Cuba.

Carlos Ascanio Rodríguez, Hospital Infantil Sur “Dr. Antonio María Béguez César”, Universidad de Ciencias Médicas. Santiago de Cuba

Máster En Urgencias Médicas. Especialista de Primer Grado en Pediatría.Especialista de Primer Grado en Terapia Intensiva Pediátrica .Instructor. Hospital Pediátrico Docente Sur Antonio María Beguez Cesar. Santiago de Cuba. Cuba.

Odelinda Acosta Camacho, Hospital Infantil Sur “Dr. Antonio María Béguez César”, Universidad de Ciencias Médicas. Santiago de Cuba

Máster en Atención Integral al Niño. Especialista de Primer Grado Genética Médica. Asistente. Hospital Pediátrico Docente Sur Antonio María Beguez Cesar Santiago de Cuba. Cuba.

References

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Published

2018-12-11

How to Cite

1.
Hernández Dinza PA, Ascanio Rodríguez C, Acosta Camacho O. Type 1 Tyrosinemia in an infant. MEDISAN [Internet]. 2018 Dec. 11 [cited 2025 Jun. 3];22(9). Available from: https://medisan.sld.cu/index.php/san/article/view/2099

Issue

Section

Case Reports