Preoperative successful thrombectomy and thrombolysis of acute extensive splanchnic venous system and TIPSS thrombosis in a child with Budd-Chiari syndrome-Creating a window to enable living donor liver transplantation.

Preoperative extensive PV thrombosis can pose a technical challenge during liver transplantation surgery. Several strategies adopted to mitigate this problem include creation of a superior mesenteric vein-PV jump graft, use of a polytetrafluoroethylene graft, renoportal anastomosis, or cavoportal hemitransposition. Extensive and diffuse thrombosis of the splanchnic venous system may even necessitate multivisceral transplantation. We describe the case of a pediatric patient with Budd-Chiari syndrome and decompensated cirrhosis, who developed extensive thrombosis of the porto-spleno-mesenteric venous system prior to liver transplantation. We used a combination technique of thrombus aspiration by a novel trans-TIPPS approach followed by thrombolysis. Complete preoperative resolution of the extensive thrombosis was achieved. This allowed the creation of a brief window to enable planned LDLT. In prudently selected patients, performing an early mechanical and chemical thrombolysis of an extensive acute splanchnic venous thrombosis can thus help expedite a planned LDLT.

Therapeutic coil embolization of dominant shunt in hepatopulmonary syndrome enhances post-liver transplant respiratory recovery.

Coil embolization of the atypical enlarged pulmonary artery/arteriole with visible shunting may improve hypoxemia in patients with hepatopulmonary syndrome (HPS). When used selectively in cases with large shunts, either pre- or post-liver transplantation (LT), it can aid an early recovery and reduce morbidity. We present a case where a large intrapulmonary shunt was embolized preoperatively to improve hypoxemia associated with HPS and enhance post-operative recovery.

Mutation in the Neuroblastoma Amplified Sequence Gene as a Cause of Recurrent Acute Liver Failure, Acute Kidney Injury, and Status Epilepticus.

Cause of acute liver failure (ALF) in children remains elusive in almost 50% cases. It is caused by viral hepatitis, hemophagocytic lymphohistiocytosis, autoimmune diseases, drugs, and metabolic diseases. Recurrent ALF with intermittent recovery is caused by metabolic disorders such as fatty acid oxidation defects, respiratory chain disorders, or unknown repeat insult from diet, toxins, or viruses. Biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene have recently been associated with infantile liver failure syndrome type 2. It is associated with ALF during intercurrent febrile illness and complete recovery with conservative management. A 12-year-old boy presented with history of recurrent ALF since infancy with complete recovery and no etiological clue. He was detected to have homozygous pathogenic variation in NBAS gene which has been recently described in the literature to be associated with recurrent ALF. This is the first such case report from India. During the episode of ALF, when he presented to us, he had acute kidney injury and status epilepticus. The association of other organs with NBAS protein deficiency-associated ALF needs to be established.

Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation.

Citrullinemia Type 1 (also known as classic citrullinemia) is a rare autosomal recessive urea cycle disorder due to reduced activity of argininosuccinate synthetase 1; characterized by hyperammonemia leading to neurological damage. The authors report a case of an 8-y boy who was diagnosed with Citrullinemia Type 1 at birth which was anticipated prenatally due to family history. His diagnosis was confirmed as a homozygous mutation (Exon 15: c.1168G > A (p.G390R)) of ASS gene. Inspite of being on a protein-free diet and ammonia scavenging treatment; the patient developed recurrent episodes of encephalopathy and seizures; complicated with behavioral issues. The patient underwent living related liver-transplantation from his mother (heterozygous carrier of the same mutation). Peri-transplant management of ammonia and plasma amino acid levels is challenging and has been highlighted. It is important to consider liver transplantation as it corrects the genetic deficiency of ASS resulting in the reversal of neuro-behavioral changes, as was seen in index patient.