A Challenging Case of Pediatric Tyrosinemia in a 3 Y.O. Baby Girl Treated with Living Donor Liver Transplantation (LDLT)
PACE Hospitals
PACE Hospitals’ Liver Transplant team successfully performed Living Donor Liver Transplantation (LDLT) on a 3-year-old female child diagnosed with Tyrosinemia Type 1 due to fumarylacetoacetate hydrolase (FAH) deficiency, with chronic liver dysfunction, proximal renal tubular acidosis, developmental delay, and multiple space-occupying lesions in the liver. The procedure was performed to replace the diseased liver, restore liver function, and manage the progressive complications associated with the underlying metabolic disorder.
Chief complaints
A 3-year-old female child presented to the Liver Transplant Department at
PACE Hospitals, Hitech City, Hyderabad, with developmental delay and growth retardation, with concerns regarding delayed achievement of age-appropriate developmental milestones since around 8 months of age.
Past Medical history
The child was a known case of Tyrosinemia Type 1 with associated proximal renal tubular acidosis (RTA) and chronic liver dysfunction. She also had a history of pathological fracture of the right humerus. She had previously been managed with tyrosine restriction and regular liver function monitoring. No previous surgical procedures or drug/food allergies were documented in the available case details.
On Examination
On examination, the child was evaluated for her general physical condition, growth, nutritional status, and developmental status. A detailed systemic examination was performed, including assessment of the abdomen and other relevant clinical parameters, as part of the preoperative evaluation.
Diagnosis
Upon admission to PACE Hospitals, Hyderabad, the child underwent a comprehensive clinical evaluation in view of the developmental delay and growth retardation. She was a known case of Tyrosinemia Type 1, an inherited metabolic disorder caused by fumarylacetoacetate hydrolase (FAH) deficiency, with associated proximal renal tubular acidosis and chronic liver dysfunction.
A detailed medical history, physical examination, and relevant investigations were performed to assess the extent of hepatic and renal involvement. Liver function tests indicated hepatic failure, while a CECT scan of the abdomen revealed multiple space-occupying lesions (SOLs) in the liver, suggestive of advanced hepatic involvement.
Based on the clinical findings and investigation results, the child was diagnosed with Tyrosinemia Type 1 with proximal renal tubular acidosis, chronic liver dysfunction, and multiple hepatic SOLs. Considering the progressive liver dysfunction and advanced hepatic involvement, she was evaluated for Living Donor Liver Transplantation (LDLT). Pre-transplant evaluation included liver and renal function assessment, imaging studies, and other required investigations to determine transplant suitability.
Based on the confirmed diagnosis and progressive liver dysfunction, the child was advised to undergo
Tyrosinemia Type 1 Treatment, along with proximal renal tubular acidosis, chronic liver dysfunction, and multiple hepatic SOLs, under the Supervision of the Liver Transplant Department.
Medical Decision Making
After a detailed consultation with the Dr. CH. Madhusudhan, (Senior Consultant Surgical Gastroenterologist and Liver Transplant Surgeon), along with Dr. Govind Verma, (Interventional Gastroenterologist and Hepatologist), a comprehensive evaluation was performed to determine the most appropriate treatment approach.
Considering the child’s history of Tyrosinemia Type 1 due to fumarylacetoacetate hydrolase (FAH) deficiency, chronic liver dysfunction, proximal renal tubular acidosis, developmental delay, and pathological fracture, further evaluation was undertaken to assess the severity of hepatic involvement. Liver function tests indicated hepatic failure, while CECT imaging demonstrated multiple space-occupying lesions (SOLs) in the liver, suggesting advanced liver involvement.
Based on the clinical assessment and investigation findings, Living Donor Liver Transplantation (LDLT) was considered the most appropriate treatment option to replace the diseased liver and address the progressive hepatic dysfunction associated with Tyrosinemia Type 1.
The child’s parents were evaluated for their suitability as living donors, and the necessary pre-transplant investigations and pre-anaesthesia assessment were completed. The child and her family were counselled regarding the diagnosis, planned liver transplantation, donor evaluation, expected benefits, potential perioperative risks, postoperative care, immunosuppressive therapy, and the importance of regular long-term follow-up.
Surgical Procedure
Following the decision, the patient was scheduled for Living Donor Liver Transplantation (LDLT) in Hyderabad at PACE Hospitals, under the supervision of the Liver Transplant team.
The following steps were carried out during the procedure:
- Preoperative Preparation and Anaesthesia: After completing the required investigations and donor evaluation, the child was prepared for liver transplantation. A detailed pre-anaesthesia assessment was completed, and the procedure was performed under general anaesthesia with continuous monitoring.
- Donor Graft Preparation: One of the parents was evaluated and found suitable as a living liver donor. A suitable portion of the donor's liver was carefully prepared for transplantation based on the child's requirements.
- Removal of the Diseased Liver: The child's damaged liver was surgically removed after careful control of the major blood vessels and biliary structures. The recipient site was prepared to receive the donor liver graft.
- Implantation and Reconstruction of the Liver Graft: The donor liver segment was implanted into the child's abdomen. The graft's blood vessels were connected to the recipient vessels, and biliary reconstruction was performed to establish adequate blood flow and bile drainage.
- Graft Assessment and Completion of Surgery: Following implantation and vascular and biliary reconstruction, the transplanted liver was assessed for adequate blood flow and early graft function. The surgery was completed successfully, and the child was shifted to the ICU for close postoperative monitoring.
Postoperative Care
Following Living Donor Liver Transplantation (LDLT), the child was closely monitored for graft function, liver blood flow, respiratory status, fluid and electrolyte balance, and overall recovery. Supportive care was provided to prevent graft rejection, infections, gastric complications, nutritional deficiencies, nausea, pain, and fever.
On postoperative day 3, the child developed a sudden hypoxic event followed by
cardiac arrest. Immediate cardiopulmonary resuscitation was performed, and circulation was restored. She required intubation and intensive care support before subsequent stabilisation. Postoperative ileus and minimal bilious drain output were managed conservatively with close monitoring and supportive measures.
Discharge Medications
At discharge, the child was advised to continue immunosuppressive treatment to prevent rejection of the transplanted liver, along with infection-prevention therapy, gastric protection, nutritional supplementation, and medicines for nausea, pain, or fever as required. Continued monitoring of liver and renal function, electrolytes, and immunosuppressive drug levels was advised during follow-up.
Advice on Discharge
The parents were advised to give all prescribed medicines regularly, maintain proper hygiene, follow the recommended nutritional plan, and monitor the child’s drain output.
Emergency Care
The patient’s parents were advised to contact the emergency ward at PACE Hospitals immediately in case of fever, worsening abdominal pain or swelling, persistent vomiting, difficulty breathing, reduced urine output, worsening jaundice, unusual drowsiness, significant changes in drain output, or any sudden deterioration in the child’s condition.
Review and Follow-up Notes
The patient was advised to return for a follow-up visit with the Surgical Gastroenterologist after one week to assess postoperative recovery, graft function, wound healing, nutritional status, and overall response following Living Donor Liver Transplantation (LDLT).
Conclusion
This case highlights the successful management of Tyrosinemia Type 1 with chronic liver dysfunction, proximal renal tubular acidosis, and advanced hepatic involvement through Living Donor Liver Transplantation (LDLT). Following transplantation, the patient received close multidisciplinary care and was discharged in a hemodynamically stable condition with appropriate follow-up advice.
Medical Disclaimer: This page provides general health information and does not replace individual consultation with a qualified paediatric hepatology or liver-transplant team. The need for liver transplantation, possible risks, and recovery vary according to the child’s diagnosis, liver and kidney function, disease severity, donor suitability, and other clinical factors.
Living Donor Liver Transplantation for Tyrosinemia Type 1
Tyrosinemia Type 1 is a rare inherited metabolic disorder caused by fumarylacetoacetate hydrolase (FAH) deficiency, which can result in progressive liver and renal involvement. In this case, advanced liver dysfunction with multiple hepatic lesions led to evaluation for Living Donor Liver Transplantation (LDLT). The child required careful perioperative and postoperative monitoring because of the underlying metabolic disorder and associated proximal renal tubular acidosis.
Following transplantation, graft function, liver blood flow, renal function, electrolytes, and immunosuppressive therapy were closely monitored. Although a significant postoperative hypoxic event with cardiac arrest required resuscitation and intensive care support, the child was subsequently stabilized and continued to recover. This case highlights the importance of timely transplant evaluation, multidisciplinary management, and close long-term follow-up, with continued care from a
liver transplant doctor/specialist for children with complex metabolic liver disease.
Frequently asked questions(FAQs)
Why was a liver transplant recommended for this child with Tyrosinemia Type 1?
In Tyrosinemia Type 1, the liver cannot properly break down tyrosine because of a deficiency of the FAH enzyme. This results in the buildup of harmful substances that can cause serious liver damage. In a child with advanced liver dysfunction, transplantation may be recommended to replace the affected liver.
Can liver transplantation cure Tyrosinemia Type 1?
Liver transplantation replaces the liver affected by the FAH enzyme deficiency and corrects the main metabolic problem arising from the liver. However, the child still needs regular medical follow-up because Tyrosinemia Type 1 may have affected other organs, including the kidneys and bones.
Why was Living Donor Liver Transplantation (LDLT) chosen for this child?
In Living Donor Liver Transplantation, a suitable family member donates a portion of their liver to the child. The donated portion can grow after transplantation and provide the required liver function. Before donation, the parent undergoes detailed medical and surgical tests to make sure donation is safe and appropriate.
Is liver transplantation safe in a young child?
Liver transplantation is performed in children with severe liver disease and certain inherited metabolic conditions. Like any major surgery, it has possible risks, including bleeding, infection, rejection, and problems involving the blood vessels or bile ducts. Careful monitoring before and after transplantation helps the medical team manage these risks.
How is the transplanted liver monitored after surgery?
The transplant team regularly checks whether the new liver is receiving adequate blood supply and functioning properly. Liver function tests, Doppler examinations and other clinical investigations may be performed during recovery. These checks help doctors identify any problem with the transplanted liver at an early stage.
Why does the child need immunosuppressive medicines after transplantation?
The body's immune system may recognise the transplanted liver as a foreign organ and try to attack it. Immunosuppressive medicines help prevent this response and reduce the risk of rejection. The medicines and their doses are reviewed regularly based on the child's condition and blood test results.
What does cardiac arrest after liver transplantation mean for the child's recovery?
Cardiac arrest is a serious complication that requires immediate treatment and intensive care. In this case, the child received CPR and was successfully stabilised. Following such an event, the medical team closely monitors the child's heart function, oxygen levels, metabolic status and other vital parameters during recovery.
Why can ileus occur after liver transplantation?
Ileus means that normal movement of the intestines temporarily slows down or stops. It can occur after major abdominal surgery and may also be influenced by anaesthesia, pain medicines, electrolyte disturbances and the body's response to surgery. It is usually managed with close observation and supportive treatment until bowel function returns.
What follow-up tests are needed after discharge?
Regular follow-up is important after a liver transplant. Depending on the child's condition, testing may include liver and kidney function, electrolytes, calcium, magnesium and phosphorus levels, as well as blood levels of immunosuppressive medicines. Additional tests or imaging may be advised when required.
Can a child lead a normal life after a successful liver transplant?
Many children recover well after liver transplantation and can gradually return to normal daily activities. The pace of recovery depends on the child's overall health and any complications or organ problems present before transplantation. Regular medicines, nutritional care, blood tests and lifelong follow-up with the transplant team remain important.
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