Clinical features and diagnostic approach in type I tyrosinaemia in an infant with cytomegaly virus infection and bacterial sepsis

Abstract

A severely ill 2-month-old female infant was admitted with meningitis and septicaemia caused by Streptococcus pneumoniae. The patient, who also had an acute cytomegalovirus (CMV) infection, revealed the typical clinical and biochemical characteristics of type I tyrosinaemia (TIT). Clinical evidence of severe hepatocellular damage was shown, but urinary succinylacetone was not detected. The diagnosis of TIT was finally confirmed by decreased activity of fumarylacetoacetase (FAA) in skin fibroblasts from the patient and both parents. Following dietary treatment and after overcoming the bacterial and viral infection, the patient's liver function improved.

‘Sick’, irritable infant with fever, vomiting, bloody stool and abdominal distention (Discussion and Diagnosis)

“…Positive blood cultures for bacteria and fungi were reported in 15% of the emergency room visits of infants with methylmalonic acidaemia, propionic acidaemia and branched‐chain aminoacidaemia (3). Few reports previously described sepsis, meningitis and cytomegalovirus infection as the presentation of hereditary tyrosinaemia type I (HT‐1) (4).…”

Persistent coagulopathy during Streptococcus pneumoniae sepsis and left foot abscess in a previously healthy infant revealed tyrosinemia

“… 1 These are several reports of invasive pneumococcal disease (IPD) with HT1. Wabitsch et al 2 reported a severely ill 2‐month‐old female infant with meningitis and septicaemia caused by SP and HT1. Gill and Lipscomb 3 reported a 3‐month‐old, previously healthy girl diagnosed with primary pneumococcal peritonitis associated with HT1.…”

Letter: Tyrosinemia Type 1 with Cytomegalovirus Infection in Infancy

“…3 Few other case reports have highlighted this rare entity. 4 5 Detection of tyrosinemia is common in the West due to newborn screening programs for metabolic diseases. Our patient had tyrosinemia and CMV infection with very high viral load.…”