Przypadek argininobursztynurii u pięciodniowego noworodka z ciąży bliźniaczej

Agnieszka Lecka, Joanna Wójcicka

Streszczenie
Argininosuccinicaciduria is an inherited disorder of amino acid metabolism due to argininosuccinate lyase deficiency. Case presentation: A 3010g full-term female neonate was born to a gravida 1, para 1 as the first of the twins. The Apgar score was 10 at 1 minute. The other of the twins was a healthy baby boy. At the age of 5 days the newborn was admitted to the hospital in a severe distress with an initial diagnosis of food aspiration. On admission the baby was unconscious, hypotonic without neonatal reflexes. Deep and abdominal reflexes were absent. Pupils were narrow with no response to light. The newborn presented slight dehydration and anuria. In laboratory tests no elevation of inflammatory markers was find. Lumbar puncture, chest X-ray, abdominal and head ultrasound examination were normal. Gasometry revealed alcalosis. Administered treatment included i.v. hydratation, claforan and zovirax, suspecting both severe sepsis and Herpes simplex meningitis. The baby condition did not improve with the treatment. Convulsions and temperature deregulation appeared. Head ultrasound examination revealed intracerebral haemorrhages. Biochemical tests were performed to exclude metabolic disorder. Ammonia level was 574 mg/1 (range up to 40), urea level was diminished – 7.7 mg/dl (range 18-40). Despite a high concentrated glucose solution administration no improvement was observed. Circulatory arrest and death ensued in the 3^rd twenty-four hours of the hospitalisation. In post mortem histopathological examination of a muscle specimen no features of metabolic disease were detected. However, the results of urinalysis were characteristic for argininosuccinicaciduria.
Conclusions
1. The course of metabolic disease may imitate severe sepsis, resulting in misdiagnosis and delay of an efficient treatment.
2. The presence of the healthy second twin does not exclude metabolic disease.

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