Category: Acute liver dysfunction

Recurrent acute liver dysfunction in a 19-month-old boy. DIAGNOSIS: UREA CYCLE DEFECT (part 2)

Patients with UCD typically have severe enzyme deficiency and present in the neonatal period with irritability, poor feeding, vomiting and lethargy secondary to severe hyperammonemia. Some patients only have partial enzyme deficiency and present later in childhood, or even adulthood, during times of catabolic stress, such as prolonged fasting or illness. Catabolic stress causes increased […]

Read more
Recurrent acute liver dysfunction in a 19-month-old boy

Recurrent acute liver dysfunction in a 19-month-old boy (part 2)

At 19 months of age, the infant presented for a third time to the emergency room with vomiting, poor oral intake and lethargy. The patient exhibited tachycardia (heart rate 191 beats/min), tachypnea (respiratory rate 30 breaths/min, oxygen saturation 100%) and dehydration with cold extremities and prolonged capillary refill. He was afebrile. Capillary blood gas analysis […]

Read more

Recurrent acute liver dysfunction in a 19-month-old boy (part 1)

A male infant with an unremarkable family history and medical history presented initially at 12 months of age with vomiting and recurrent otitis media, which was treated successfully with antibiotics. At 16 months of age, he presented again to the emergency room with severe vomiting with hematemesis, in the context of a recurrent otitis under […]

Read more