Successful Anesthetic Management of an Adult Patient With Glycogen Storage Disease Type 1 During Liver Transplant: A Case Report.

Glycogen storage disease type 1 is a congenital abnormality of metabolism caused by the deficiency of the glucose-6-phosphatase enzyme, essential in glucose homeostasis. Patients with this disease are at high risk of developing hypoglycemia, hyperlipidemia, lactic acidemia, growth retardation, neutropenia, inflammatory bowel disease, and many other severe complications, such as hepatic adenomas converting into hepatocellular carcinomas. To prevent these complications, a liver transplant is the ultimate method of treatment. We present the successful anesthesia management for a 21-year-old man who had gross hepatomegaly, severe hypoglycemia, and hyperlactatemia and who received a liver transplant from his mother, which is a substantial challenge for anesthesiologists. Anesthesiologists should know the underlying pathophysiological condition and perform a comprehensive preoperative evaluation to determine the correct anesthesia plan in patients with glycogen storage disease type 1 who will undergo an orthotopic liver transplant due to multiple system disorders. Successful perioperative management of patients with glycogen storage disease type 1 relies on effective communication and collaboration between specialists through a multidisciplinary team approach.

Perioperative management in pediatric domino liver transplantation for metabolic disorders: A narrative review.

Domino liver transplantation and domino-auxiliary partial orthotopic liver transplantation are emerging techniques that can expand the liver donor pool and provide hope for children with liver disease. The innovative technique of domino liver transplantation has emerged as a pioneering strategy, capitalizing on structurally preserved livers from donors exhibiting single enzymatic defects within a morphologically normal context, effectively broadening the donor pool. Concurrently, the increasingly prevalent domino-auxiliary partial orthotopic liver transplantation method assumes a critical role in bolstering available donor resources. These advanced transplantation methods present a unique opportunity for pediatric patients who, despite having structurally and functionally intact livers and lacking early signs of portal hypertension or extrahepatic involvement, do not attain priority on conventional transplant lists. Utilizing optimal clinical conditions enhances posttransplant outcomes, benefiting patients who would otherwise endure extended waiting periods for traditional transplantation. The perioperative management of children undergoing these procedures is complex and requires careful consideration of some factors, including clinical and metabolic conditions of the specific metabolic disorder, and the need for tailored perioperative management planning. Furthermore, the prudent consideration of de novo disease development in the recipient assumes paramount significance when selecting suitable donors for domino liver transplantation, as it profoundly influences prognosis, mortality, and morbidity. This narrative review of domino liver transplantation will discuss the pathophysiology, clinical evaluation, perioperative management, and prognostic expectations, focusing on perioperative anesthetic considerations for children undergoing domino liver transplantation.

Bronchiectasis After Solid-Organ Transplant: A Retrospective Single Center Study.

OBJECTIVES: Bronchiectasis is characterized by abnormal, persistent, and irreversible enlargement of the bronchi. Many etiological factors have been described, but there are limited data on the development of bronchiectasis after organ transplantation. Our study is the first to study evaluate the frequency of bronchiectasis in heart and liver transplants as well as kidney transplants. Our aim is to analyze the frequency of bronchiectasis development after solid-organ transplant and the characteristics of the cases and to evaluate potential relationships. MATERIALS AND METHODS: We retrospectively analyzed data of patients who underwent solid-organ transplant at the Baskent University Faculty of Medicine Hospital through the hospital electronic information system. Demographic, clinical, and laboratory data and thoracic computed tomography scans were evaluated. RESULTS: The study included 468 patients (151 females/317 males). Kidney transplant was performed in 61.5% (n = 207), heart transplant in 20.3% (n = 95), and liver transplant in 18.2% (n = 85) of patients. Development of bronchiectasis was detected in only 13 patients (2.7%). We determined a 13.64-fold risk of developing bronchiectasis in patients with chronic obstructive pulmonary disease and 10.08-fold risk in patients with pneumonia by multivariate regression analyzes, in which all possible risk factors for the development of bronchiectasis after transplant were evaluated. CONCLUSIONS: The pathophysiology of transplantassociated bronchiectasis has not yet been clarified. Underlying diseases, recurrent pulmonary infections, and potential effects from immunosuppressive drugs may contribute to the pathogenesis of bronchiectasis. Further prospective studies are needed to include long-term health outcomes in transplant patients with and without bronchiectasis.

Challenges and Possible Solutions to Donation After Circulatory Death in Turkey and the Middle East: Panel Discussion Summary Report.

The 20th century has witnessed the development of tissue and organ transplantation as the best therapeutic option for end-stage organ failure; however, organ shortages remain a prominent worldwide issue. Donation after circulatory death is an accepted practice in several countries around the world but also poses many challenges. Presently, controlled donations after circulatory death are not really in practice in Turkey and the Middle East, and the implementation of this practice seems complicated. To gather information about the possible reasons underlying the lack of organs from donors after circulatory death, as well as solutions, a discussion session took place during the International Symposium on "Brain Death and Circulatory Death" on November 29-30, 2023, in Ankara, Turkey. A description on different topics that were discussed is presented.

Donation after Brain Death and Circulatory Death in Turkey: Current Status.

Tissue and organ transplantation is the best treatment option for end-stage organ failure. However, organ shortage still remains to be the greatest challenge facing the field of organ transplantation. Millions of people die and are buried with healthy organs, which could save the lives of many patients who continue to wait on transplant lists. Countries must aim to work towards a system of matching organs as much as possible with the deceased donation to meet the growing demand for organs. This action will not only result in the reduction of organ trafficking activities but shall also make an enormous difference to those patients awaiting transplants where living organ donors are not an option. Donation after circulator death (DCD) has gained much attention over the last decade as one of the accepted practices in order to expand the donor pool. DCD donation takes place after declaration of death using cardio-respiratory criteria in contrast to donation after brain death (DBD) where neurological criteria are used. Although DCD remains a focus of interest and contributes to donor numbers in many countries, it also poses many challenges medically, ethically and legally.

Comprehensive Overview of Innovative Strategies in Preventing Renal Ischemia-reperfusion Injury: Insights from Bibliometric and In Silico Analyses.

BACKGROUND: Ischemia-Reperfusion Injury (IRI) is a complex pathophysiological process with severe consequences, including irreversible loss of renal function. Various intraoperative prevention methods have been proposed to mitigate the harmful effects of warm ischemia and kidney reperfusion. AIM: This comprehensive analysis provides an overview of pharmacological agents and intraoperative methods for preventing and treating renal IRI. METHODS: Our analysis revealed that eplerenone exhibited the highest binding affinity to crucial targets, including Aldehyde Dehydrogenase (AD), Estrogen Receptor (ER), Klotho protein, Mineralocorticoid Receptor (MR), and Toll-Like Receptor 4 (TLR4). This finding indicates eplerenone's potential as a potent preventive agent against IRI, surpassing other available therapeutics like Benzodioxole, Hydrocortisone, Indoles, Nicotinamide adenine dinucleotide, and Niacinamide. In preventing kidney IRI, our comprehensive analysis emphasizes the significance of eplerenone due to its strong binding affinity to key targets involved in the pathogenesis of IRI. RESULTS: This finding positions eplerenone as a promising candidate for further clinical investigation and consideration for future clinical practice. CONCLUSION: The insights provided in this analysis will assist clinicians and researchers in selecting effective preventive approaches for renal IRI in surgical settings, potentially improving patient outcomes.

Mortality Factors in Crush Syndrome.

BACKGROUND: Crush Syndrome is a major cause of morbidity and mortality following large-scale catastrophic earthquakes. Since there are no randomized controlled studies on Crush Syndrome, knowledge on this subject is limited to expert experience. The primary objective is to analyze the epidemiological and demographic characteristics, clinical outcomes, and mortality factors of earthquake victims after the Pazarcik and Elbistan earthquakes on February 6, 2023. METHODS: This cross-sectional and observational retrospective study evaluated 610 earthquake victims who presented to our center between February 6 and April 30, 2023. Among these patients, 128 with Crush Syndrome were included in the study. Patient information was gathered from hospital records during their stay and from national registries upon referral. The primary outcome was to identify risk factors for mortality. Demographic and laboratory data were analyzed by acute kidney injury (AKI) stages; mortality-affecting factors were identified through regression analysis. RESULTS: Of the 128 Crush Syndrome patients (100 adults, 28 children), 64 were female. The AKI rate was 32.8%. Among patients with AKI, the frequency of hemodialysis requirement was 69%, and the mortality rate was 14.2%. The overall mortality rate for patients with Crush Syndrome was 4.6%, compared to 3.9% (19/482) in earthquake victims without Crush Syndrome (p=0.705). Notably, low systolic blood pressure at admission was the only factor significantly affecting mortality in Crush Syndrome patients (Hazard Ratio [HR]: 1.088, p=0.021, 95% Confidence Interval [CI]). CONCLUSION: Our study highlights low systolic blood pressure upon admission as a significant risk factor for increased mortality in Crush Syndrome patients. This finding may contribute to the literature by emphasizing the importance of monitoring blood pressure under rubble and administering more aggressive fluid therapy to patients with low systolic blood pressure.

Successful Anesthesia Management of Pediatric Living Donor Liver Transplant With Mild Bilateral Pulmonary Artery Stenosis Due to Alagille Syndrome: A Case Report.

Alagille syndrome is an autosomal-dominantinherited disease characterized by intrahepatic bile duct involvement, congenital heart disease, eye anomalies, skeletal and central nervous system involvement, kidney anomalies, and facial appearance. Liver transplant is the only treatment option for patients with end-stage liver disease and Alagille syndrome. Bilateral peripheral pulmonary artery stenosis is a contraindication for liver transplant due to high mortality, and the decision for liver transplant in patients with bilateral peripheral pulmonary artery stenosis is extremely challenging for anesthesiologists andtransplant surgeons.Wepresent a 2-year-oldfemale patient with successful anesthetic management of a pediatric living donor liver transplant with mild bilateral pulmonary artery stenosis, mild aortic stenosis, and mitral regurgitation due to Alagille syndrome. Anesthesiologists should know the underlying pathophysiological condition and perform a comprehensive preoperative evaluation to determine the correct anesthesia plan in patients with Alagille syndrome who will undergo liver transplants to treat multiple system disorders. Successful perioperative management of Alagille syndrome requires effective communication and collaboration between specialists through a multidisciplinary team approach.

Expected Life Expectancy on Liver Transplantation and Aging Donor.

In this study, our aim was to show the life expectancy according to donor age groups at 1, 3, 5, 10, 15, and 20 years after liver transplant in liver transplant recipients. In this retrospective study, we analyzed the survival rate of 236 patients who had liver transplant procedures between 1988 and 2021. The 5-year life expectancy of recipients with donors over age 50 years in the literature has been shown to vary between 50% and 80%. Little information could be found on life expectancy after 10, 15, and 20 years in other studies. In the studies from Haberal and colleagues, life expectancy at 10, 15, and 20 years was 49%, 42%, and 42%, respectively. This study presents an evidence-based example of the use of elderly donors to enlarge the donor pool.

Interventional Management of Portal Vein Stenosis after Liver Transplant: Single Center Experience.

OBJECTIVES: Portal vein stenosis is a relatively rare complication after liver transplant but has severe consequences. We evaluated the efficacy and longterm results of the endovascular treatment methods for portal vein stenosis. MATERIALS AND METHODS: From October 2011 to October 2022, we treated 22 patients (5 female, 17 male) with portal vein stenosis using endovascular methods. Doppler ultrasonography was used for initial diagnosis, with consideration of flow rate increase over stenosis, absence of flow, or reduced anastomotic segment size (>50%). Angiography served as the gold standard, with a pressure gradient above 5 mm Hg indicating the need for treatment. Technical success criteria were defined as <50% stenosis remaining and/or a pressure gradient <5mm Hg. The transhepatic approach was used for all patients. Balloon angioplasty was initially performed, and stents were reserved for patients in the early postoperative period or those unresponsive to balloon angioplasty. RESULTS: The technical success rate was 100%. Mean age was 27.1 years (SD 22.4; range, 4 months to 63 years). Mean time from transplant to intervention was 317 days (range, 0-3135 days). Angioplasty was successful for 7 patients (13.8%). Of 15 patients who underwent stent placement, 9 (40.9%) were in the early postoperative period; in the other 6 patients (27%), results of angioplasty were not satisfactory, and stents were placed. Within 3 months of transplant, 3 patients died because of other complications. Among patients with stents, 2 required reintervention, resulting in reestablishment of good portal venous flow. During the mean follow-up of 24 months (range, 15 days to 9 years), 19 patients (86%) had portal flows within reference limits. CONCLUSIONS: The endovascular approach is a safe and effective treatment option for management of portal vein stenosis in both adult and pediatric liver transplant recipients in the early or late period.

Evaluation of Imaging Findings in Patients with Pretransplant and Posttransplant Tertiary Hyperparathyroidism.

OBJECTIVES: Tertiary hyperparathyroidism, characterized by autonomous overproduction of parathyroid hormone, can be seen in patients with long-standing secondary hyperparathyroidism (pretransplant) or after renal transplant (posttransplant). Parathyroid scintigraphy and ultrasonography are the most commonly used imaging procedures for the preoperative localization of abnormal parathyroid glands. We aimed to evaluate imaging findings in pretransplant and posttransplant tertiary hyperparathyroidism. MATERIALS AND METHODS: This study included 32 patients with pretransplant tertiary hyperparathyroidism and 20 patients with posttransplant tertiary hyperparathyroidism. On parathyroid scintigraphy with technetium-99m sestamibi, early-phase and latephase images were acquired. Images were evaluated for the presence and the number of active foci and the degree of uptake on the late-phase image. The existence of an autonomous gland was based on latephase retention and was scored from 0 to 2 (retention score). On ultrasonography, the criteria threshold for autonomy was the maximum length of the largest gland ≥10 mm (ultrasonography score). RESULTS: On parathyroid scintigraphy, the most commonly observed pattern in the pretransplant group was positivity in ≥3 glands, and in the posttransplant group the most commonly observed pattern was positivity in 1 to 2 glands. In pretransplant and posttransplant groups, the criteria threshold for the presence of an autonomous parathyroid gland on parathyroid scintigraphy (grade 2 retention) was met in 26 (81%) and 9 (45%) patients and on ultrasonography in 25 (78%) and 10 (50%) patients, respectively. In the whole group of patients (n = 52), correlation existed between ultrasonography score and retention score. Glandular weight was correlated with both retention score and ultrasonography score. CONCLUSIONS: Higher numbers of detectable glands and the presence of parathyroid autonomy were more common in the pretransplant group. This might be explained by parathyroid gland involution after transplant. The results may also suggest that factors other than autonomy are responsible for posttransplant tertiary hyperparathyroidism.

An Emerging Issue: Carbapenem-Resistant Enterobacteriaceae in Solid-Organ Transplantation.

OBJECTIVES: Bloodstream infections caused by carbapenem-resistant bacteria have increased globally. Solid-organ transplant recipients are more prone to these infections. This study aimed to compare the clinical courses of carbapenem-susceptible and carbapenem-resistant Enterobacteriaceae bloodstream infections and to identify risk factors for carbapenem resistance in solid-organ transplant recipients. MATERIALS AND METHODS: For this retrospective descriptive study, data for solid-organ transplant recipients (age ≥18) treated from 2015 to 2022 were obtained from medical records. Enterobacteriaceaepositive blood culture was screened from laboratory data. RESULTS: Among 72 patients, there were 100 bacteremia episodes. Patients included 40 kidney (55.6%), 21 liver (29.2%), 7 heart (9.7%), and 4 combined liver and kidney (5.6%) transplant recipients. Fifty-seven bacteremia episodes were recorded between 2015 and 2020, and 43 bacteremia episodes were recorded between 2020 and 2022. Carbapenem resistance was reported in 15.8% of patients before 2020, whereas this rate increased to 39.5% after 2020 (P = .007). Pitt bacteremia score ≥4 (P < .001), Charlson comorbidity index ≥4 (P = .021), chronic liver disease (P = .015), septic shock at admission (P = .001), hypotension at admission (P = .006), bacteremia episodes 48 hours after hospitalization (P = .004), hospitalization in the past 3 months (P = .004), and prior invasive procedure (P = .043) were significant factors for carbapenem resistance. Logistic regression analysis showed that bacteremia 48 hours after hospitalization (P = .002) and hospitalization in the past 3 months (P = .006) were independent risk factors. CONCLUSIONS: Carbapenem resistance increased significantly over the years. Bacteremia 48 hours after hospitalization and hospitalization within the past 3 months were determined to be risk factors for carbapenem resistance. Carbapenem-resistant infections are still nosocomial infections. Patients should be hospitalized for as a short time as possible, and both patients and their physicians should follow infection control and prevention methods.

Evaluation of Candidemia in Solid-Organ Transplant Recipients.

OBJECTIVES: Solid-organ transplant recipients have high rates of invasive fungal infections. Candida species are the most commonly isolated fungi. Our aim was to identify risk factors, clinical presentations, and outcomes of candidemia in solid-organ transplant recipients. MATERIALS AND METHODS: We evaluated adult (≥18 years old) transplant recipients seen from May 2011 to December 2022 at Baskent University Ankara Hospital. From medical records, we retrospectively reviewed age, sex, transplant type, candidemia agent, risk factors, concomitant infections, and mortality of patients with Candida detected in blood culture. We used SPSS statistics software (version 25) to analyze data. RESULTS: There were 1080 organ transplants performed during the study period (717 kidney, 279 liver, 84 heart). There were 855 who were ≥18 years (655 kidney, 127 liver, 73 heart), of whom candidemia was detected in 26 (16 male; 11 kidney, 11 liver, 4 heart) with a median age of 47.5 years. The most common agents were Candida albicans and Candida glabrata. The most common chronic diseases were hypertension, cirrhosis, and cardiomyopathy. Eighteen patients had a concomitant focus of infection. Ten patients had pneumonia accompanying candidemia. The 30-day mortality rate was as high as 53.8%. The mean duration of candidemia after transplant was 23 months. Catheter-related candidemia was observed in 65% of patients. The 30-day mortality was found to be significantly higher in patients followed in the intensive care unit (P = .014), receiving total parenteral nutrition (P = .001), using broad-spectrum antibiotics (P = .001), and having pneumonia (P = .042) accompanying candidemia. CONCLUSIONS: For adult solid-organ transplant recipients with candidemia, careful monitoring is essential for successful management of total parenteral nutrition, central catheter, use of broadspectrum antibiotics, and invasive interventions.

Ocular Symptoms in Kidney, Liver, and Heart Transplant Patients.

OBJECTIVES: The purpose of this study was to report the ocular manifestations in kidney, liver, and heart transplant recipients. MATERIALS AND METHODS: We reviewed the medical records of kidney, liver, and heart transplant recipients who were examined at the ophthalmology clinic of a tertiary hospital between October 2021 and October 2022. We evaluated the ocular complaints of the patients, ophthalmological examination findings, the etiology of the underlying disease, comorbidities, posttransplant duration, and the medications used. Ocular pathologies were classified as corneal, conjunctival, lens, vitreoretinal, and optic disc pathologies for the analysis. RESULTS: Our study included 233 patients (191 kidney, 40 liver, 2 heart transplant patients). Mean age of patients was 42.94 ± 17.45 years. Among the patient group, 80.3% had at least 1 pathological ocular finding. In subgroup analysis, 12.4% of the patients had corneal pathologies, 19.3% had conjunctival pathologies, 33.0% had lens pathologies, 33.5% had vitreoretinal pathologies, and 18.9% had optic disc-related pathologies. The most common finding was dry eye, followed by cataract and vitreoretinal pathologies. The most common vitreoretinal pathology was diabetic retinopathy, followed by hypertensive retinopathy. The ocular pathology incidence in kidney and liver transplant patients was similar (P = .05). The 2 heart transplant patients did not have any ocular pathologies except refractive errors. In addition, no significant correlation was observed between posttransplant duration and ocular pathologies (P = .28). CONCLUSIONS: Ocular findings were seen in most of the kidney and liver transplant recipients. Therefore, it is required that these patients undergo routine ocular screenings in order to facilitate early diagnosis and prompt treatment when needed.

Relationship Between the Decision-Making Balance Regarding Organ Donation and Level of Empathy.

OBJECTIVES: In Turkey, the rate of organ donations has not reached the desired level. Although the vital importance of organ transplantation is known, the low participation in organ donation is an issue that needs to be examined meticulously. Organ donation decisions can be affected by demographic factors, such as family, personality traits, and religion and by psychological factors, such as attitude, intention, and sacrifice. For this reason, it is important to find the reasons that prevent people from being a donor and to develop intervention methods for them. In this context, we aimed to evaluate the relationship between the balance of decision-making regarding organ donation and the level of empathy. MATERIALS AND METHODS: A total of 638 adults (mean age of 25.32 ± 9.95 years; n = 468 female participants and n = 170 male participants) voluntarily participated in the study. We used the Organ Donation Decisional Balance Survey to measure basic information on participants' personal valuations on the importance of positive and negative aspects of donor decisions. We used the Empathy Quotient scale to determine the empathy level of participants. We determined the relationship between variables using Pearson correlation analysis. RESULTS: Organ donation balance had positive correlations with measures of cognitive empathy subscale (r = 0.115; P < .01), emotional reactivity subscale (r = 0.117; P < .01), and social skills subscale (r = 0.084; P < .05). CONCLUSIONS: We found a positive relationship between empathy and the individual decision-making balance on donation; therefore, empathy development and altruism may affect organ donation decisions.

Immunity Rates of Live Viral Vaccines in Pediatric Renal Transplant Candidates: A Single-Center Experience.

OBJECTIVES: Solid-organ transplant recipients are at an increased risk of severe infections due to their immunosuppressed state. Despite the recommendation of routine screening and vaccination before transplant to mitigate this danger, vaccination rates in these patients are still below desirable levels. We aimed to investigate the prevalence of positive antibody rates for measles, mumps, rubella, and varicella among children who are candidates for renal transplant. MATERIALS AND METHODS: This retrospective study was conducted at a single center and included 144 pediatric kidney transplant patients for the past 7 years. We reviewed the medical records of all participants to evaluate their serologic status for measles, mumps, rubella, and varicella viruses before kidney transplant. RESULTS: In this study, 144 pediatric kidney transplant candidates (mean age 11.5 years, 56.9% male) were enrolled, and the most frequent causes of the chronic renal disease were congenital anomalies of the kidney and urinary tract and glomerular diseases (32.6%). Seropositivity rates for measles, mumps, rubella, and varicella were 59.0%, 31.9%, 46.5%, and 43.6%, respectively, and all patients who tested negative for antibodies were vaccinated before transplant. Younger age at transplant (OR = 0.909, 95% CI = 0.840-0.923; P = .017) and congenital anomalies of the kidney and urinary tract (OR = 3.46, 95% CI = 1.1548-7.735; P = .002) were significantly associated with increased measles seropositivity, although no significant associations were observed for the other viruses. CONCLUSIONS: We observed lower seropositivity rates for measles, mumps, rubella, and varicella in pediatric kidney transplant patients versus healthy children and other previous studies. It is essential to address these suboptimal rates to protect the health of these vulnerable patients. Future research should focus on targeted interventions to improve vaccination rates and outcomes in this population.

Evaluation of Vitamin D Levels in Children With Liver Transplant.

OBJECTIVES: Vitamin D deficiency is common in pediatric chronic liver disease despite oral replacement. We evaluated vitamin D deficiency before and after liver transplant and the relationship between posttransplant and pretransplant vitamin D deficiency and graft rejection. MATERIALS AND METHODS: Pediatric recipients with chronic liver disease (N =138) were divided into 4 groups: cholestatic liver diseases, cirrhosis, metabolic disorders, and acute liver failure. Pretransplant and posttransplant vitamin D levels, liver function tests, Pediatric End-Stage Liver Disease scores, rejection activity index scores by graft liver biopsy, and posttransplant patient survival were recorded. RESULTS: There were 62 (45%) female and 76 (55%) male participants (mean transplant age, 6.1 ± 5.6 years). Pretransplant mean available vitamin D of 90 patients was 25.2 ± 20.9 ng/mL, with 36 (40%) within reference range. Posttransplant level for 109 patients was 27.3 ± 18 ng/mL, with 64 (58.7%) within reference range. Pretransplant and posttransplant levels were available for 61 patients, and mean pretransplant levels were lower than posttransplant levels (23.7 ± 19.3 vs 28.3 ± 16.9 ng/mL; P = .01). Patients with cholestatic liver disease had lower pretransplant vitamin D levels (P = .04), which disappeared after transplant. Pretransplant vitamin D levels were positively correlated with serum albumin levels (r = 0.20) in all patients and negatively correlated with total/direct bilirubin (r = 0.29 and r = -0.30) in those with liver diseases and cirrhosis. No correlations were found between pretransplant vitamin D levels and Pediatric End-Stage Liver Disease scores, rejection activity index scores, and posttransplant mortality. CONCLUSIONS: Vitamin D deficiency is prevalent in pediatric chronic liver disease before and after transplant, especially for cholestatic liver diseases. However, no association between vitamin D levels and liver graft rejection or patient survival was noted. We recommend close monitoring and individualized vitamin D supplementation before and after liver transplant.

SCYL1 deficiency: A rare entity with challenging neurological manifestations after liver transplantation.

BACKGROUND: Pediatric acute liver failure (PALF) with undetermined etiology is associated with higher liver transplantation and lower spontaneous recovery (transplant-free) rates. The diagnostic odyssey in PALF cases hinders appropriate management and follow-up after liver transplantation. Advances in whole exome sequencing analysis have already been successful at identifying new genetic causes of PALF. CASE PRESENTATION: We report a 17-year-old girl who underwent liver transplantation at the age of 7 months due to acute liver failure and presented later with abnormal neurological manifestations, that is, gait disturbances, dysarthria, and mental retardation that led us to the diagnosis of SCYL1 deficiency. CONCLUSION: PALF cases should be screened for possible underlying genetic disorders. Genetic studies and reanalysis of whole-genome sequencing data may help identify new cases and clarify the genotype-phenotype correlation. SCYL1 deficiency should be suspected in PALF patients who develop neurological involvement after LT. Early diagnosis is vital for proper management of ALF crises in SCYL1 deficiency patients. Despite the reported favorable outcomes of ALF crises in SCYL1 deficiency, liver transplantation decision should be discussed on a case-by-case basis.