Attending physician, division of critical care Nemours Childrens Hospital, United States
Introduction: Peliosis hepatis (PH) is a rare disorder where blood-filled cavities develop within the liver parenchyma. The pathophysiology of PH is thought to be related to disruption of sinusoidal endothelium with hemorrhage into sinusoids. There is no consensus treatment for this condition which can be fatal if not identified early with aggressive treatment. PH has been identified in 15 pediatric cases associated to X-linked myotubular myopathy (MTM). In this report we describe a case of a child with MTM and PH.
Description: The patient was a 10-year-old male with MTM admitted after cardiac arrest due to acute respiratory failure secondary to COVID pneumonia. ROSC was achieved prior to admission. He was admitted to the PICU for post-resuscitation care and acute Covid-19 treatment including dexamethasone, Remdesivir, Tocilizumab, and therapeutic enoxaparin. On day 7 the patient developed hemorrhagic shock and acute liver failure. Abdominal CT showed randomly distributed cavitations involving all hepatic lobes, consistent with PH. He received blood product resuscitation and reversal of anticoagulation with stabilized hemodynamics. Multidisciplinary team, including liver transplant evaluation, determined that liver involvement was too extensive to intervene and continued conservative management. The patient progressed to multi-organ failure and family elected for withdrawal of support three days later.
Discussion: PH is a rare cause of pediatric acute liver failure. Diagnosis can be suggested by imaging studies and confirmed by biopsy. Survival of this lethal condition relies on early diagnosis and aggressive intervention. Prior cases report successful treatment with early identification and either transcatheter arterial embolization (TAE) or liver transplantation. Even with these interventions, morbidity and mortality remains high. The relationship between PH and MTM is unclear but hypothesized that abnormal myotubularin function predisposes to PH. In this patient, he was not a transplant candidate due to recent anoxic brain injury and multiorgan failure. TAE was not performed due to extensive liver involvement. In conclusion, peliosis hepatis should be considered in patients with MTM who develop acute liver failure and hemorrhagic shock with prompt, aggressive treatment.
