Successful bilateral lung transplantation in pulmonary alveolar microlithiasis: A case report and review of literature.

BACKGROUND: Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive genetic disorder with approximately 1000 known cases worldwide, in which calcium phosphate microliths deposit in the alveolar air spaces. As of writing this report, no definitive conventional therapy exists, and many PAM cases may progress to severe respiratory failure and potential death. Bilateral lung transplantation (BLx) seems to be the most optimal solution; however, this procedure is challenging along with limited reports regarding the outcome in PAM. We report a case of PAM successfully treated with BLx for the first time in Iran. METHOD: We present the case of a 42-year-old female with a longstanding history of cough, not responding to conventional antitussive medication, who was diagnosed as a case of PAM following a hospitalization due to coughing, dyspnea on exertion, and hemoptysis. Despite treatment with corticosteroid and medical treatment, no improvement was achieved and she subsequently developed respiratory and right ventricular failure, with oxygen ventilation dependence. Eventually, she was scheduled for BLx. The operation was successful and during her 2-year follow-up, no recurrence or significant postoperative complications has been reported. CONCLUSION: This case presentation and literature review confirm the effectiveness of BLx as a promising treatment for PAM-diagnosed patients, improving both life expectancy and quality of life.

Liver Transplantation in a Woman with Mahvash Disease.

Mahvash disease is an exceedingly rare genetic disorder of glucagon signaling characterized by hyperglucagonemia, hyperaminoacidemia, and pancreatic α-cell hyperplasia. Although there is no known definitive treatment, octreotide has been used to decrease systemic glucagon levels. We describe a woman who presented to our medical center after three episodes of small-volume hematemesis. She was found to have hyperglucagonemia and pancreatic hypertrophy with genetically confirmed Mahvash disease and also had evidence of portal hypertension (recurrent portosystemic encephalopathy and variceal hemorrhage) in the absence of cirrhosis. These findings established a diagnosis of portosinusoidal vascular disease, a presinusoidal type of portal hypertension previously known as noncirrhotic portal hypertension. Liver transplantation was followed by normalization of serum glucagon and ammonia levels, reversal of pancreatic hypertrophy, and resolution of recurrent encephalopathy and bleeding varices.

Living donor liver transplantation for congenital hepatic fibrosis in children.

Congenital hepatic fibrosis (CHF) often accompanies autosomal recessive polycystic kidney disease (ARPKD), which stems from a PKHD1 gene mutation. The aim of this study was to clarify the prognosis of children with CHF who received living donor liver transplantation (LDLT) from donors who might be heterozygous carriers of a hepatorenal fibrocystic disease. Fourteen children with CHF who underwent LDLT at our center were enrolled. Eight and two patients had ARPKD and nephronophthisis, respectively. Eight of the donors were the recipients' fathers, and six donors were their mothers. We examined the histological and radiological findings of the donor livers and complications in the recipients following the liver transplantation. Seven of the donor livers presented morphological abnormalities of the bile ducts. Abdominal computed tomography revealed liver cysts in eight donors. One recipient underwent re-LT for graft failure due to rejection. Three patients presented with rejection, and one presented with sepsis. The overall survival rate was 100% and the original graft survival rate was 93%. In conclusion, the prognosis of recipients who received a LDLT from their parents for CHF was excellent. However, the morphology of half the donor livers was abnormal. Careful follow-up is needed to ensure long-term graft survival.

Abortion for fetal indications: Timing of prenatal diagnosis and abortion for structural and genetic abnormalities.

OBJECTIVE: To compare diagnoses in patients undergoing abortion for fetal indications at 15-0/7 to 21-6/7 vs. ≥22-0/7 weeks' gestation. STUDY DESIGN: This retrospective cohort study included women undergoing abortion at ≥15-0/7 weeks' gestation for fetal indications from 2012 to 2018 at our institution. We compared indications (genetic vs. structural only) between groups by gestational age (15-0/7 to 21-6/7 vs. ≥22-0/7 weeks). We performed statistical analysis using Fisher's exact and Mann-Whitney U tests. RESULTS: The 158 women identified included 97 (61.4%) at 15-0/7 to 21-6/7 and 61 (38.6%) at ≥22-0/7 weeks' gestation. Women at an earlier gestational age more commonly had an initial diagnosis of a genetic disorder (41 [42.3%)] vs.10 [16.4%], respectively, p < .001). In 69 cases with initial or subsequent diagnosis of a genetic disorder, there were differences in the types of genetic abnormalities, with common chromosomal abnormalities (including Trisomies 13, 18, and 21) the most frequent diagnosis in those who underwent abortion at 15-0/7 to 21-6/7 weeks and microarray abnormalities more common at ≥22-0/7 weeks (22 [44.9%] vs. 4 [18.2%]) and 7 [14.9%] vs. 11 [50.0%], respectively, p = .01). Routine ultrasonography for fetal anomaly surveillance occurred one week earlier in women undergoing abortion for structural anomalies at 15-0/7 to 21-6/7weeks (median 19-2/7 weeks [interquartile range (IQR) 19 0/7 to 19-5/7 weeks]) compared to ≥22-0/7 weeks (median 20-2/7 weeks [IQR 19 6/7 to 20 4/7 weeks]), p < .001. CONCLUSION: Abortions for genetic indications are performed earlier in gestation compared to those performed for structural abnormalities. Timing of fetal anatomy ultrasound examination correlated with gestational age at abortion for structural abnormalities. IMPLICATIONS: Many states impose gestational-age based abortion bans, with 20-weeks post-fertilization the most common. However, we may not identify fetal abnormalities until close to 22 weeks gestation (20-weeks post-fertilization). Optimizing timing of prenatal diagnosis might mitigate the impact of gestational-age based abortion bans.

Use of pediatric donor en bloc kidneys along with bladder segment in pediatric liver-kidney and multivisceral-kidney transplantation.

The combination of pediatric multivisceral and kidney transplantation leads to additional recipient risks due to the number of anastomoses and to the small sizes of donor structures. The inclusion of donor kidneys, ureters, and a bladder patch en bloc with multivisceral organs decreases the number and complexity of anastomoses and has not yet been reported. Four patients were transplanted in this fashion; three underwent multivisceral-kidney and one underwent liver-kidney transplantation. The first patient was a 3-year-old male with polycystic kidney disease and congenital hepatic fibrosis. The second was a 7-year-old female with complications from necrotizing enterocolitis. The third was a 12-month-old male with megacystis microcolon intestinal hypoperistalsis syndrome and secondary hydronephrosis, and the fourth was a 3-year-old male with multiple intestinal resections secondary to incarcerated hernia. The third patient developed a right ureteral stenosis with an intact bladder patch. The fourth child expired from maintained abdominal sepsis. The first 3 patients maintained normal graft function. There were no cases of thrombosis, arterial stenosis, or urinary leakages. These reported cases demonstrate that small pediatric en bloc transplantation of the multivisceral organs and dual kidneys with a bladder patch anastomosis is a feasible and less complex alternative to the standard procedure.

Pulmonary Hypertension and Polycythemia Secondary to Pulmonary Alveolar Microlithiasis Treated with Sequential Bilateral Lung Transplant: A Case Study and Literature Review.

BACKGROUND Pulmonary alveolar microlithiasis is an autosomal recessive disease in which a mutation in the SLC34A2 gene that codes for a sodium phosphate type IIb transporter protein (expressed in human epithelial tissues and functions in the clearance of phosphate ions) leads to the formation of extensive pulmonary intra-alveolar microliths. The subsequent characteristic clinical features of dyspnea and hypoxia are a manifestation of these microliths. There have been fewer than 1000 cases of pulmonary alveolar microlithiasis reported worldwide, and there have been 19 reported lung-transplanted patients. CASE REPORT A 49-year-old Saudi male patient presented with longstanding history of easy fatigability and tiredness on exertion since he was 16 years old. Throughout his follow-up in different hospitals (1986-1989), tuberculosis and pulmonary fibrosis were suspected. The patient was lost to follow-up between 1989 and 2001. In 2002, he presented to the emergency room with coughing, shortness of breath on exertion, abdominal swelling, and pedal edema. An investigation with chest x-rays, CT scan, electrocardiogram, and an echocardiogram was conducted. After referral to a tertiary care center, the patient was diagnosed with pulmonary alveolar microlithiasis. He subsequently developed pulmonary hypertension and polycythemia and therefore received a bilateral lung transplant in 2016. Following the lung transplant, he developed a mild reperfusion injury and tonic-clonic seizures, requiring ICU admission. After a successful extubatation with stable vitals and good recovery, he was discharged home in stable condition with planned follow-up. CONCLUSIONS We report a case of pulmonary alveolar microlithiasis successfully treated with a bilateral lung transplant. Although pulmonary alveolar microlithiasis is a rare entity, healthcare providers should consider it in the differential diagnoses of parenchymal lung diseases and differentiate it from tuberculosis and pulmonary fibrosis.

The Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Inherited Diseases Is Influenced by HLA Match, Year of Transplantation, and Immunized Female Donor.

BACKGROUND: For many inborn errors of metabolism (IEM), allogeneic hematopoietic stem cell transplantation (HSCT) is the only cure. METHODS: We report the outcome in 160 patients with inherited diseases, who were treated with HSCT in 3 decades. Median age was 3 years (range 0.1-63). Grafts were from matched related donors (MRDs, 56), matched unrelated donors (MUDs, 66), or HLA-mismatched donors (38). RESULTS: Graft failure (GF) occurred in 26 patients (16%), severe acute graft-versus-host disease (GVHD) in 9 (6%), and chronic GVHD in 23 (12%). Ten-year survival was 64% before the year 2000 and 86% after that (P = 0.01). Ten-year survival for MRD grafts was 90%, as opposed to 79% for MUD grafts and 56% for HLA-mismatched grafts (P = 0.03). In multivariate analysis, GF was associated with having an HLA-mismatched donor (P < 0.05) or MUD (P = 0.015) and with reduced-intensity conditioning (P < 0.01). Death was associated with year of transplant (P = 0.015), having an HLA-mismatched donor (P < 0.001), and being a male recipient from an immune female donor (P = 0.05). CONCLUSIONS: The outcome after HSCT for IEM depends on HLA match, year and immune female donor.

Successful lung transplantation in an HIV seropositive patient with desquamative interstitial pneumonia: a case report.

BACKGROUND: Until recently, lung transplantation was not considered in patients with human immunodeficiency virus (HIV). HIV seropositive patients with suppressed viral loads can now expect long-term survival with the advent of highly active antiretroviral therapies (HAART); however, HIV remains a relative contraindication to lung transplantation. We describe, to our knowledge, the first HIV seropositive lung transplant recipient in Canada. We also review the literature of previously reported cases of solid-organ transplantation in patients with HIV with a focus on immunosuppression considerations. CASE PRESENTATION: A 48-year old man received a bilateral lung transplant for a diagnosis of desquamative interstitial pneumonia (DIP) attributed to cigarette and cannabis smoking. His control of HIV infection pre-transplant was excellent on HAART, and he had no other contraindications to lung transplantation. The patient underwent bilateral lung transplantation using basiliximab, methylprednisolone, and mycophenolate mofetil (MMF) as induction immunosuppression. He was maintained on MMF, prednisone, and tacrolimus thereafter, and restarted his HAART regimen immediately post-operatively. His post-transplant course was complicated by Grade A1 minimal acute cellular rejection, as well as an enterovirus/rhinovirus graft infection. Despite these complications, his functional status and control of HIV infection remain excellent 24 months post-transplant. CONCLUSIONS: Our patient is one of only several HIV seropositive lung transplant recipients reported globally. With growing acceptance of transplantation in this population, there is a need for clarification of prognosis post-transplantation, as well as optimal immunosuppression regimens for these patients. This case report adds to the recent literature that suggests HIV seropositivity should not be considered a contraindication to lung transplantation, and that post-transplant patients with HIV can be managed safely with basiliximab, tacrolimus, MMF and prednisone.

Corrección quirúrgica en una adolescente con hiperplasia gingival hereditaria / Surgical correction in an adolescent with hereditary gingival hyperplasia

Se describe el caso clínico de una adolescente que fue atendida en la consulta de Periodoncia del Hospital General Docente Dr Juan Bruno Zayas Alfonso de Santiago de Cuba, por presentar agrandamiento de las encías desde hacía más de un año, lo que le dificultaba la masticación de los alimentos y, por tanto, le producía trastornos digestivos transitorios, además de afectar su estética. Luego de realizados los exámenes físico y complementarios, se estableció el diagnóstico presuntivo de hiperplasia gingival hereditaria o familiar y se indicó el tratamiento, que incluyó 3 fases: la inicial, la correctiva quirúrgica y la de soporte periodontal. En la fase quirúrgica se tomó una muestra hística cuyo análisis anatomopatológico confirmó el diagnóstico presuntivo inicial

The case report of an adolescent that was assisted in the Periodontics Service of Dr Juan Bruno Zayas Alfonso Teaching General Hospital in Santiago de Cuba is described. He presented enlargement of the gums for more than a year, which made mastication of foods difficult and therefore, transitory digestive dysfunctions took place, besides affecting her aesthetics. After the physical and complementary tests, the presumptive diagnosis of hereditary or family gingival hyperplasia was established and the treatment was indicated into 3 phases: initial phase, surgical corrective phase and that of periodontal support. In the surgical phase a tissue sample was taken which pathologic analysis confirmed the initial presumptive diagnosis

[Reduced-intensity conditioning haematopoietic stem cell transplantation in genetic diseases: Experience of the Spanish Working Group for Bone Marrow Transplantation in Children]. / Trasplante de progenitores hematopoyéticos con intensidad reducida en enfermedades genéticas. Experiencia del grupo GETMON (Grupo Español de Trasplante de Médula Ósea en Niños).

INTRODUCTION: Haematopoietic stem cell transplantation (HSCT) involves implanting cellular elements capable of generating a new and healthy haematopoietic system. Reduced intensity conditioning (RIC) consists of an immunosuppressive treatment to facilitate a progressive implant with lower morbidity. This type of conditioning can also lead to myelosuppression, which is potentially reversible over time. Reduced intensity conditioning enables HSCT to be performed on patients with genetic diseases for whom added comorbidity is undesirable due to the high doses of chemotherapy that accompanies conventional myeloablative regimens. PATIENTS AND METHODS: An analysis was performed on the outcomes of 68 paediatric patients with genetic diseases who underwent HSCT with RIC between 2005 and 2013 in the of Paediatric Haematopoietic Stem Cell Transplantation Units that are part of the Spanish Working Group for Bone Marrow Transplantation in Children. A multicentre study was conducted including 68 patients, of whom 43 had Primary Immunodeficiency, 21 with congenital haematological diseases, and 4 with metabolic diseases. RESULTS: Fifty (73.5%) of the 68 patients were still alive. The Overall Survival (OS) at nine years was 0.74. Twenty-three (33.8%) had some event during the course of the HSCT, with an event-free survival rate of 0.66. The OS in patients with haematological diseases was 0.81, being 0.7 in primary immunodeficiencies, and 0.4 in metabolic diseases. No significant difference was observed between the 3 groups of diseases. As regards the source of haematopoietic progenitors, there was an OS rate of 0.74 in patients transplanted with peripheral blood, 0.70 with bone marrow, and 0.70 and with cord blood, with no statistically significant differences. CONCLUSIONS: Favourable results have been obtained in HSCT with reduced intensity conditioning in genetic diseases. It should be noted that the risks and benefits of the RIC in patients with metabolic diseases need to be assessed on an individual basis.

Resource Use and Morbidities in Pediatric Cardiac Surgery Patients with Genetic Conditions.

OBJECTIVE: To evaluate and describe resource use and perioperative morbidities among those patients with genetic conditions undergoing cardiac surgery. STUDY DESIGN: Using the Pediatric Health Information System database, we identified patients ≤18 years old with cardiac surgery classified by Risk Adjustment for Congenital Heart Surgery (RACHS) during 2003-2014. A total of 95 253 patients met study criteria and included no genetic conditions (84.6%), trisomy 21 (9.9%), trisomy 13 or 18 (0.2%), 22q11 deletion (0.8%), Turner syndrome (0.4%), and "other" genetic conditions (4.2%). We compared perioperative complications and procedures in each genetic condition with patients without genetic conditions using regression analysis. RESULTS: All groups with genetic conditions, excluding trisomy 21 RACHS 3-5, experienced increased length of stay and cost among survivors. Complications varied by genetic condition, with patients with trisomy 21 having increased odds of pulmonary hypertension and nosocomial infections. Patients with 22q11 only had increased odds of infection. Patients with Turner syndrome had increased odds of acute renal failure (OR 2.35). Patients with trisomy 13 or 18 had increased odds of pulmonary hypertension (OR 3.13), acute renal failure (OR 2.93), cardiac arrest (OR 2.84), and nosocomial infections (OR 3.53), and those with "other" genetic conditions had increased odds of all complications. CONCLUSIONS: Children with congenital heart disease and genetic conditions, except trisomy 21 RACHS 3-5, had increased costs and length of stay. Perioperative morbidities were more common and differed across genetic condition subgroups. Patient-specific risk factors are important for risk stratification, benchmarking, and counseling with families.

Hereditary hemorrhagic telangiectasia-laser treatment of epistaxis.

Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant disorder characterized by recurrent epistaxis, telangiectasias, and multiorgan vascular dysplasia. Various modalities exist for the treatment of HHT-related chronic epistaxis, although no method is preferred over another. The aim of this study was to review the effectiveness of diode laser photocoagulation in the treatment of epistaxis in patients with HHT. The study included 17 patients (7 men, 10 women) treated with diode laser photocoagulation from year 2008 to 2012. All patients met the Curaçao criteria for a diagnosis of HHT. Patients were followed for 1 year. Treatment success was assessed using a custom questionnaire and total blood counts. After laser photocoagulation, the frequency and intensity of bleeds were reduced significantly and average hemoglobin concentrations improved at the 4-month assessment. After laser treatment, no patient required septodermoplasty; therefore, we suggest that every patient with HHT should be treated with laser photocoagulation. Diode laser treatment is a simple and effective procedure that should be considered when treating HHT.

Abortion for fetal defects: two current arguments.

A common utilitarian argument in favor of abortion for fetal defects rests on some controversial assumptions about what counts as a life worth living. Yet critics of abortion for fetal defects are also in need of an argument free from controversial assumptions about the future child's quality of life. Christopher Kaczor (in: Kaczor (ed), The ethics of abortion: women's rights, human life, and the question of justice, Routledge, New York, 2011) has devised an analogy that apparently satisfies this condition. On close scrutiny, however, Kaczor's analogy is too weak to debunk the common-morality intuition that at least some abortions for fetal defects are morally permissible. The upshot of this discussion is that, on the moral permissibility of abortions for fetal defects, a case-by-case approach is to be preferred.

Laparoscopic-Assisted Percutaneous Endoscopic Cecostomy (LAPEC) in Children and Young Adults.

OBJECTIVE: We evaluated the safety and efficacy of the laparoscopic-assisted percutaneous endoscopic cecostomy (LAPEC) procedure both in children and young adults, along with review of their pre-operative motility profiles, antegrade continence enema (ACE) regimen, and postoperative complications. METHODS: This retrospective review investigated 38 patients (32 children and 6 young adults) that underwent the LAPEC procedure. Primary outcomes evaluated were success versus failure of the procedure and post-operative complications. Success was defined as daily stool evacuation with minimal to no fecal incontinence per week. RESULTS: Mean follow up time was 25.8 ± 22.4 months. Indications for LAPEC included slow transit constipation or colonic neuropathy (n = 22), other types of constipation (n = 5), and a variety of congenital disorders (n = 11). The overall success rate was 95% (36/38 patients) with the two failures in children, both attributed to inability to use the tube due to underlying behavioral disorders or severe anxiety. Five patients above age 18 had leakage compared to 6 in the under age 18 group (83% vs. 19, P = 0.003). There were no other significant complications. CONCLUSION: LAPEC is a safe and effective means of addressing refractory constipation and fecal incontinence in children and young adults who have failed medical management with minimal post-operative complications.

Pediatric living donor liver transplantation for congenital hepatic fibrosis using a mother's graft with von Meyenburg complex: A case report.

This is the first report of living donor liver transplantation (LDLT) for congenital hepatic fibrosis (CHF) using a mother's graft with von Meyenburg complex. A 6-year-old girl with CHF, who suffered from recurrent gastrointestinal bleeding, was referred to our hospital for liver transplantation. Her 38-year-old mother was investigated as a living donor and multiple biliary hamartoma were seen on her computed tomography and magnetic resonance imaging scan. The mother's liver function tests were normal and she did not have any organ abnormality, including polycystic kidney disease. LDLT using the left lateral segment (LLS) graft from the donor was performed. The donor LLS graft weighed 250 g; the graft recipient weight ratio was 1.19%. The operation and post-operative course of the donor were uneventful and she was discharged on post-operative day (POD) 8. The graft liver function was good, and the recipient was discharged on POD 31. LDLT using a graft with von Meyenburg complex is safe and useful. Long-term follow-up is needed with respect to graft liver function and screening malignant tumors.

Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome.

Anaplastic sarcoma of kidney (ASK) is a rare neoplasm recently associated with DICER1 mutations. We report a child with germline DICER1 mutation who developed ASK in preexisting septated renal cysts, which were likely cystic nephroma. From age 2.5 to 6 years, sonographic imaging illustrated changes in the size and number of renal cysts, followed at age 8.8 years by a mass, pathologically an ASK. Lung cysts resected in infancy were diagnosed retrospectively as pleuropulmonary blastoma. Both tumors had acquired somatic DICER1 mutations. Ultrasonographic evolution of renal cysts to ASK has not previously been documented. Children with both pulmonary and renal cysts are candidates for DICER1 mutation testing.

A rare indication for lung transplantation - pulmonary alveolar microlithiasis: institutional experience of five consecutive cases.

BACKGROUND: Pulmonary alveolar microlithiasis (PAM) is a rare lung disease caused by calcifications within the alveolar space. The only known effective treatment for an end-stage PAM is lung transplantation (LuTX). METHODS: We performed a retrospective chart review of all individuals that underwent lung transplantation at our center between 1989 and 2013. Five consecutive patients with PAM were identified. RESULTS: Four females and one male with a mean age of 46.3 yr were identified. Extracorporeal membrane oxygenation (ECMO) support was required intraoperatively in four cases and post-operatively in one case. Mean post-operative intubation time was 3.3 (range, 2-5) d and mean intensive care unit (ICU) stay was 8.3 (range, 4-12) d. No intraoperative complications were observed. One early patient (operated in 1995) underwent acute re-transplantation on the second post-operative day (POD) and died from sepsis on the 11 POD. In one patient reperfusion edema was observed requiring a prolonged weaning process. No other severe perioperative complications were observed. Four of five patients are currently still alive with normal follow-up parameters. No recurrence of PAM was observed. CONCLUSIONS: Lung transplantation is a feasible therapy option in patients with end-stage PAM showing good post-operative results comparable to other indications for LuTX.

Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide.

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterised by the widespread intra-alveolar accumulation of minute calculi called microliths. It is caused by mutation of the SLC34A2 gene encoding the type IIb sodium phosphate cotransporter in alveolar type II cells. The present study explores the epidemiological, familial, genetic, clinical, diagnostic, radiological and therapeutic aspects with the aim of contributing to a better understanding of this uncommon disease.We searched articles on PAM published up to December 2014 and 544 papers were found, accounting for 1022 cases.PAM is present in all continents and in many nations, in particular in Turkey, China, Japan, India, Italy and the USA. Familiality is frequent. The clinical course is not uniform and the causes of this clinical variability seem to be largely nongenetic. The optimal diagnostic procedure is the association of chest high-resolution computed tomography (HRCT) with bronchoalveolar lavage, but a chest radiograph may suffice in families in which a case has already been diagnosed. Moreover, chest radiography and HRCT allow the classification of the evolutionary phase of the disease and its severity. At present lung transplantation is the only effective therapy. However, better knowledge of the gene responsible offers hope for new therapies.

Surgical Management of Caroli's Disease: Single Center Experience and Review of the Literature.

BACKGROUND: Caroli's disease is a rare congenital condition characterized by non-obstructive dilatation of intrahepatic ducts. In Caroli's syndrome, there is additionally an associated congenital hepatic fibrosis. METHODS: With institutional review board approval, we identified all patients with Caroli's disease and syndrome. RESULTS: Nine patients were identified, seven males and two females, with a median age of 40 years. Final pathological diagnoses included Caroli's disease (n = 6) and Caroli's syndrome (n = 3). Patients presented with deranged liver function, cholangitis, cholangiocarcinoma, abdominal pain, cirrhosis, or were diagnosed incidentally. Four patients underwent resection and two underwent liver transplantation. Of the resection group, two patients subsequently underwent transplantation for recurrent cholangitis due to anastomotic stricture in one patient and for end-stage liver disease in the other. All patients with Caroli's syndrome underwent liver transplantation. Three patients died during follow-up at 26.2, 7.8, and 3 months post-diagnosis with recurrence of cholangiocarcinoma, liver failure, and metastatic cholangiocarcinoma, respectively. Six patients are alive with a median follow-up of 60 months since presentation (range = 10-134 months). CONCLUSIONS: Caroli's disease and syndrome have a varied presentation. Most individuals with Caroli's disease may be adequately treated by resection, but transplantation is required for Caroli's syndrome patients due to the associated hepatic fibrosis.