Peliosis Hepatis in a Child with X-Linked Myotubular Myopathy Treated with Living-Donor Liver Transplant: A Case Report.

BACKGROUND: Myotubular myopathy is a rare disease sometimes accompanied by peliosis hepatis, a leading cause of fatal liver hemorrhage. CASE REPORT: We present a case of a 2-year-old boy with myotubular myopathy who developed liver hemorrhage because of peliosis hepatis and was successfully treated with living-donor liver transplant. The patient initially presented with fever, anemia, and liver dysfunction. A computed tomographic scan revealed hemorrhages in the liver, and the patient underwent hepatic artery embolization twice. After the second embolization, multiple peliosis hepatis cavities appeared in the left lobe of the liver that had increased in size. Therefore, the patient underwent ABO-incompatible living-donor liver transplant using a lateral segment graft from his father. The patient developed severe septic shock with an unknown focus on postoperative day 18, which resolved with antibiotic therapy. On postoperative day 62, he was discharged. Fourteen months after undergoing living-donor liver transplant, the patient showed no recurrence of peliosis hepatis. CONCLUSIONS: Although the long-term prognosis of peliosis hepatis due to myotubular myopathy after living-donor liver transplant remains unclear, liver transplant may be a curative treatment for patients with myotubular myopathy who have uncontrollable peliosis hepatis.

Living-donor liver transplantation for liver hemorrhaging due to peliosis hepatis in X-linked myotubular myopathy: Two cases and a literature review.

X-linked myotubular myopathy (MTM) (OMIM 310400) is a severe neuromuscular disorder caused by mutations in the myotubularin (MTM1) gene. Liver hemorrhaging due to peliosis hepatis (PH) is a fatal complication. We herein report 2 successful cases of living-donor liver transplantation (LDLT) for MTM patients due to liver hemorrhaging caused by PH and review previous reports. A boy who was 9 years and 4 months old initially underwent left lateral segmentectomy due to massive hepatic and intraperitoneal hemorrhaging. As bleeding from the remnant liver continued after hepatectomy, this patient emergently underwent LDLT using a left lateral segment graft from his father. Another boy who was 1 year and 7 months old underwent transcatheter arterial embolization due to hepatic hemorrhaging and was referred to our hospital for LDLT using a left lateral segment graft from his father. The pathological findings in both cases showed sinusoidal dilatation with degenerative changes in reticular fiber and hematoma in the explanted liver, which were consistent with PH associated with MTM. LT should be considered as a treatment option for patients with episodes of hepatic hemorrhaging due to MTM in order to protect against fatal bleeding.

[Anesthetic management of a child with myotubular myopathy who underwent two operations using only total intravenous anesthesia (TIVA)].

We present a case of anesthetic management in a child with myotubular myopathy. A 3-month-old, 3.0 kg, male patient, who had been suspected of a congenital myopathy, was scheduled for the muscle biopsy. He was intubated at birth in NICU. Anesthesia was induced with propofol and remifentanil, and maintained with propofol and remifentanil. The results of biopsy and gene analysis led to the diagnosis of myotubular myopathy. Five months later, this 8-month-old, 4.0 kg, patient was scheduled for the tracheostomy. Anesthesia was induced with propofol, fentanyl and rocuronium bromide, and maintained with propofol and fentanyl. The child underwent two operations under total intravenous anesthesia (TIVA) with propofol and fentanyl or remifentanil. These anesthetic courses were uneventful without symptoms of malignant hyperthermia nor propofol infusion syndrome. We did not use sugammadex, because there is still no evidence to the safe use of sugammadex in infants (aged 28 days-23 months). Congenital myopathy is related to malignant hyperthermia, and total intravenous anesthesia (TIVA) is a preferable and safe method for children with this disease.

[Anesthetic management of a patient with congenital myopathy complicated with severely impaired pulmonary function].

A 17-year-old man, who had received a diagnosis of congenital myopathy, was scheduled for superficial temporal artery to middle cerebral artery anastomosis procedure. Preoperative respiratory examinations showed the breathing capacity of 450 ml because of a scoilosis, deformity of a thorax and severe muscular atrophy. Anesthesia was maintained with propofol, fentanyl, remifentanil and vecuronium to avoid malignant hyperthermia (MH). Endotracheal intubation was performed with a gum elastic bougie for difficult airway management (DAM). After intubation, we checked the positioning of the tracheal tube by a chest X ray and bronchofiber findings. During perioperative period, no symptom of MH and respiratory dysfunction was noticed. In the anesthesia for patients with congenital myopathy, deterioration of respiratoy function, prevention for MH, and possibility of DAM should be considered.

Segmental transposition of ileal muscle layers: a rare cause of myopathic pseudoobstruction in a newborn.

Gastrointestinal motility disorders are induced by various causes in neonates, some of which are not classified. Generally, these disorders can be classified as a neuropathy or myopathy, each of which can be subdivided into a primary or secondary type. We describe a neonate with a rare form of myopathy related to segmental transposition of the smooth muscle of the ileum and a brief review of the relevant literature.

General anesthesia in an infant with X-linked myotubular myopathy.

We present a 20-week-old infant with the X-linked form of myotubular myopathy who required anesthesia for a Nissen fundoplication procedure where the response to nondepolarizing neuromuscular blockade was evaluated.