Archive for the ‘Acute liver dysfunction’ Category

Recurrent acute liver dysfunction in a 19-month-old boy. DIAGNOSIS: UREA CYCLE DEFECT (part 3)

DIAGNOSIS: UREA CYCLE DEFECT (part 3)

The present case, which is most likely OTCD, illustrates this very rare presentation and shows that lethargy and hyperammonemia may not be predominant. The laboratory chronology of the patient indicates that the elevated levels of ammonia appear early in the course of liver dysfunction and may not be detected later when liver dysfunction is still observed. Paediatricians should recognize this presentation of a UCD and promptly measure plasma ammonia, plasma amino acid and urinary orotic acid levels to screen for this potentially life-threatening disease.

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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 protein breakdown that leads to increased ammonia production, which can exceed their residual enzymatic capacity. In OTCD (Table  1 ), this late-onset presentation is observed in up to 30% of male patients. Variable symptoms have been reported in these patients, including protein avoidance, psychosis, behavioural changes, recurrent vomiting, episodic ataxia, seizures and hyper-ammonemic coma. Acute liver dysfunction has been very rarely described as the sole presentation of UCD, but this presentation may have been under-recognized. Dreaming of a reliable pharmacy that could give you an opportunity to buy any amounts of cialis — professional canadian pharmacy with no prescription required and spend less money?
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Recurrent acute liver dysfunction in a 19-month-old boy. DIAGNOSIS: UREA CYCLE DEFECT (part 1)

Urea cycle defects (UCDs) are rare inborn errors of metabolism that are characterized by impaired conversion of ammonia to urea, causing hyperammonemia. Ammonia accumulation causes hyperventilation and respiratory alkalosis, as well as a secondary increase in glutamine, which can cause cerebral edema.

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

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 showed pH 7.43, partial pressure of carbon dioxide 29 mmHg and a calculated bicarbonate level of 18.7 mM. His lactate levels and anion gap were normal, and his hepatic workup demonstrated a mildly elevated INR of 1.52 and normal transaminase levels. Because of the patient’s lethargy, his plasma ammonia level was tested and was found to be elevated (179 pM). Additional laboratory tests confirmed the diagnosis. Read the rest of this entry »

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

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 antibiotic treatment. A gastric lavage was performed and his clinical status improved rapidly following treatment with intravenous fluid rehydration and ranitidine. His coagulation profile revealed a mildly increased international normalized ratio (INR) of 1.63 (normal 0.8 to 1.3). On day 6 after the emergency room visit, the coagulopathy was found to have worsened, with his INR increasing to 2.66. Read the rest of this entry »

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