Congenital lung malformations: a nationwide survey on management aspects by the Italian Society of Pediatric Surgery.

INTRODUCTION: Over the years, congenital lung malformations (CLM) management remains a controversial topic in pediatric thoracic surgery. The Italian Society of Pediatric Surgery performed a national survey to study the current management variability among centers, trying to define national guidelines and a standardized approach of children with congenital lung malformations. METHODS: Following a National Society approval, an electronic survey including 35 items on post-natal management was designed, focusing on surgical, anesthesiology, radiology and pneumology aspects. The survey was conducted contacting all pediatric surgical units performing thoracic surgery. RESULTS: 39 pediatric surgery units (97.5%) participated in the study. 13 centers (33.3%) were classified as high-volume (Group A), while 26 centers (66.7%) were low volume (Group B). Variances in diagnostic imaging protocols were observed, with Group A performing fewer CT scans compared to Group B (p = 0.012). Surgical indications favored operative approaches for asymptomatic CLM and pulmonary sequestrations in both groups, while a wait-and-see approach was common for congenital lobar emphysema. Surgical timing for asymptomatic CLM differed significantly, with most high-volume centers operating on patients younger than 12 months (p = 0.02). Thoracoscopy was the preferred approach for asymptomatic CLM in most of centers, while postoperative long-term follow-up was not performed in most of the centers. CONCLUSION: Thoracoscopic approach seems uniform in asymptomatic CLM patients and variable in symptomatic children. Lack of uniformity in surgical timing and preoperative imaging assessment has been identified as key areas to establish a common national pattern of care for CLM.

Ovarian torsion in the pediatric population: predictive factors for ovarian-sparing surgery-an international retrospective multicenter study and a systematic review.

STUDY OBJECTIVE: Ovarian torsion (OT) in pediatric age is a challenging condition to diagnose and treat. To date, there is still no clear consensus about its management. Our aim was to assess some possible associated factors that can help surgeons in decision-making. DESIGN: We conducted a retrospective multicentric study of pediatric OT surgically treated between 2010 and 2020 in six Italian and German institutions, comparing our findings with a literature review of the last 10 years (2010-2020). PARTICIPANTS: Patients aged 0-18 years with a diagnosis of OT intraoperatively confirmed and surgically treated at the involved institutions. RESULTS: Ninety-seven patients with a mean age at diagnosis of 8.37 years were enrolled in the study. Severe abdominal pain was present in 82 patients (84.5%). Eighty children (82.5%) presented an enlarged ovary with an US diameter > 5 cm and only 32 (40%) of them underwent conservative surgery. A laparoscopic approach was performed in 60 cases (61.9%) although in 15 (15.5%) conversion to open surgery was deemed necessary. A functional cyst was present in 49 patients (50.5%) while 11 children (11.3%) suffered from OT on a normal ovary. CONCLUSIONS: Our results showed that a post-menarchal age (p = .001), a pre-operative US ovarian size < 5 cm, (p = .001), the presence of severe abdominal pain (p = .002), a laparoscopic approach (p < .001), and the presence of a functional cyst (p = .002) were significantly associated with conservative surgery.

Factors associated with postoperative hypocalcemia following thyroidectomy in childhood.

BACKGROUND: Postoperative hypocalcemia is a frequent complication after thyroidectomy. Hypoparathyroidism may develop as transient (TtHP), with normalization within six months from surgery, or permanent (PtHP) if the patient requires replacement therapy. We analyzed factors associated with the development of postoperative hypoparathyroidism and in detail PtHP following thyroid surgery in a pediatric population. PROCEDURE: A retrospective multicenter study analyzing 326 patients was carried out. We recorded gender, age, tumor size, thyroiditis, extrathyroidal extension, lymph node dissection (central/lateral compartment, unilateral/bilateral), parathyroid autotransplantation, and histology. Additionally, calcium levels were acquired postoperatively. RESULTS: We analyzed pediatric patients ≤18 years who underwent thyroidectomy clustered into age groups (≤15 or > 15). Patients' mean follow-up was 5.8 years (1-11 years). Postoperative hypoparathyroidism occurred in 36 (11.0%): 20 cases (6.13%) developed PtHP. Postoperative hypoparathyroidism was more frequent in younger patients (P = 0.014), in larger tumors (P < 0.001), in case of extrathyroidal extension (P = 0.037), and in central compartment (P = 0.020) and bilateral lymph node dissection (P = 0.030). PtHP was more frequent in older patients (P = 0.014), in case of thyroiditis (P < 0.001), and extrathyroidal extension (P < 0.001). Concerning the first postoperative calcium level measurement, in the postoperative hypoparathyroidism group, we registered a 8.17 mg/dL value with 14% pre/postoperative decrease (ΔCa ), whereas in PtHP patient group calcium level was 7.91 mg/dL with 16.7% ΔCa . CONCLUSIONS: The risk of postoperative hypoparathyroidism is related to younger age, tumor size, central compartment and bilateral lymph node dissection, extrathyroidal extension, and decrease in postoperative calcium levels. The risk of PtHP is related to older age, thyroiditis, extrathyroidal extension, and decrease in postoperative calcium levels.

Laparo-Endoscopic Rendez-Vous in the Treatment of Cholecysto-Choledocolithiasis in the Pediatric Population.

OBJECTIVES: The incidence of choledocolithiasis is reported to be increasing in children. As for the adult population, several different therapeutic strategies have been described, however it is unclear which of those should be considered the gold standard. There is evidence-based literature in adults that supports a combined "rendez-vous" endoscopic retrograde cholangiopancreatography-laparoscopic cholecystectomy technique. This allows management of the choledocholithiasis during the same anesthetic episode as the cholecystectomy. By contrast, there are just two case reports in children reporting this approach. The aim of this study is to report our experience with this technique in a series of children with choledocholithiasis. METHODS: All patients who underwent the "rendez-vous technique" at our institution between 2009 and 2020 were reviewed and evaluated for outcomes and complications. RESULTS: Eleven children with cholecysto-choledocholithiasis were evaluated: the procedure was successful in 10 whereas in one patient it was aborted due to technical difficulties. All patients resolved their clinical condition without major complications. CONCLUSION: To our knowledge, this is the first consistent series of "rendez-vous technique" in the pediatric population, proving its feasibility and safety.

Intrahepatic Administration of Liposomal Amphotericin B (Ambisome) for the Management of a Liver Abscess from Candida albicans in a Preterm Infant.

Hepatic fungal abscesses are rare in the neonatal period and often constitute a severe complication of the catheterization of the umbilical vessels. Such life-threatening lesions are observed more frequently in preterm than in other newborn infants and the optimal treatment remains uncertain. We present the case of a preterm neonate, who developed an intrahepatic lesion due to parenteral extravasation, successively contaminated by Candida albicans Despite the maximal pharmacological therapies, the treatment that led to the definitive resolution of the abscess was the placement of surgical drainage followed by the direct intralesional administration of liposomal amphotericin B (Ambisome), never described in neonates in the literature, which turned out to be a safe and effective approach.

Laparoscopic ovarian tissue collection for fertility preservation in children with malignancies: a multicentric experience.

Introduction: Long survivors after childhood cancer are increasing thanks to oncological improvements. Their quality of life and fertility-sparing should be considered in the early phases of each oncological pathway. Cryopreservation of ovarian tissue removed before starting gonadotoxic therapies is the only fertility sparing procedure available for prepubertal children affected by cancer and it does not affect the timing of the start of the treatment. Materials and methods: The present study shows the surgical and clinical outcomes following laparoscopic ovarian tissue collection (LOTC) for a total of 311 patients aged between 0 and 17 years old from four different European Centers. Results: Only two major complications were reported according to the Clavien Dindo classification (0.6%). Discussion: LOTC can be considered a safe procedure.

Handheld metal detector versus conventional chest and abdominal plain radiography in children with suspected metallic foreign body ingestion: can we safely abandon X-rays?

BACKGROUND: Ingestion of metallic foreign bodies (MFBs) is a frequent occurrence in children and is commonly diagnosed via X-rays. In recent years, the handheld metal detector (HMD) has been increasingly adopted by several pediatric hospitals as it is considered an effective and accurate diagnostic tool that avoids exposure to ionizing radiations. Sensitivity of HMD has been reported high (99.4%) in case of coin ingestion, but significantly lower (46%) when considering the ingestion of other types of MFBs. METHODS: We tested the effectiveness of the HMD in diagnosing ingested MFBs in children less than 14 years of age, in our Pediatric Emergency Department (PED). We prospectively evaluated all cases of MFBs ingestion that presented at the PED of our hospital from March 2015 to July 2017. RESULTS: Ninety-eight patients were included. The overall sensitivity was 63.2% (79.5% for coins, 25.5% for batteries and 56% for other objects) while the specificity was 95%. The HMD could have replaced the X-ray examination only if a MFB was detected below the xyphoid process. CONCLUSIONS: Based on our findings, a negative result of HMD is not sufficient to exclude an ingestion of MFBs. Therefore, in case of an evocative history and depending on type and size of the foreign body, a radiological investigation is still necessary.

Comparison of outcomes following radiological reduction of intussusception with or without sedation.

BACKGROUND: Non-operative radiological reduction (NORR) is usually the first line treatment in pediatric ileo-colic intussusception. The aim of our study was to compare outcomes of NORR with or without sedation. METHODS: All patients undergoing to contrast enema NORR for intussusception between 01.01.2015 to 31.12.2020 in two hospitals were included: in one centre patients were sedated (A) while in the other patients were awake (B). Primary outcome was the rate of radiological reduction. Secondary outcomes were length-of-stay, complications and recurrence rate. RESULTS: Seventy-seven and 49 patients were included in group A and B respectively. Successful reduction rate was 72.7% in group A and 61.2% in group B (P>0.05). There were no complications related to the procedure among the 2 groups. Adverse events to sedation were observed in 3 patients. CONCLUSIONS: NORR has similar success rate when performed under sedation or awake, despite the former being graved by additional anesthesiologic risks and thus warrant careful indications.

A case of vanishing gastroschisis with short bowel syndrome treated by total parenteral nutrition and intestinal lengthening procedures.

The diagnosis of vanishing gastroschisis is made when in the presence of a full-thickness intrauterine abdominal wall defect the eviscerated loops are incarcerated in the fascial interruption. Four types of vanishing gastroschisis are described (A-D). We report on the case of a newborn with a vanishing gastroschisis-D. Gastroschisis was diagnosed at the 19th week of gestation, confirmed at the 30th, when the herniated loops previously visible to the right of the funiculus were no longer visualized. At the 32nd week, delivery was induced. The neonate weighed 1600 g, and the abdomen was distended, free from skin defects. On surgical exploration, the jejunum was 13 cm in length, with a blind ending. The post-atretic intestine measured 22 cm. A jejunostomy and a colostomy were built. The child received total parenteral nutrition for 13 months due to short bowel syndrome and was then subjected to intestinal lengthening procedure when she was 18 months old. Vanishing gastroschisis is a rare entity with a worse prognosis of the "classic" gastroschisis.

Role of coagulation tests in the management of acute appendicitis in children.

BACKGROUND: Acute appendicitis (AA) is one of the most common acute surgical conditions in children. Coagulation tests (CoTs) are usually utilized in preoperative assessment to rule out hemorrhagic risks. Our study aimed to evaluate the role of CoTs as predictors for the severity of AA. METHODS: In a retrospective study, we compared the blood tests of two cohorts of pediatric patients with AA (group A and B) evaluated in the Emergency Department of a Pediatric Tertiary care hospital between January 2017 and January 2020. Children in Group A underwent appendectomies while those in Group B were treated with conservative management per hospital protocol. Group A was then subdivided into non-complicated (NCA) and complicated appendicitis (CA), and the CoTs were compared between the two subgroups. RESULTS: Group A consisted of 198 patients and Group B of 150 patients. Blood tests, including CoTs and inflammatory markers, were compared between the 2 groups. We found a statistically significant difference in PT ratio mean value between Group A and B, suggesting that those who underwent appendicectomies had higher PT ratio values. From a pathophysiological point of view, we speculated that the variation of PT ratio in AA might be secondary to a vitamin K absorption deficit due to enteric inflammation. CONCLUSIONS: Our study underlined that a longer PT ratio could be helpful to distinguish CA from NCA. Further investigations may lead to the role of the PT ratio in the choice between conservative and surgical management.

Long-term outcomes and health-related quality of life 20 years after pediatric liver transplantation.

Pediatric liver transplantation is a challenging surgical procedure requiring complex post-transplant patient management. Liver transplantation in children should ensure long-term survival and good health-related quality of life (HR-QOL), but data in the literature are conflicting. With the aim of investigating survival and psychosocial outcomes of patients transplanted during childhood, we identified 40 patients with ≥ 20-year follow-up after liver transplantation regularly followed up at our Institution. Clinical charts were reviewed to retrieve patients' data. Psychosocial aspects and HR-QOL were investigated by an in-person or telephonic interview and by administering the WHOQOL-BREF questionnaire through an online form. Ten- and 20-year patient survival was 97.5% (95% CI 92.8-100%), whereas 10- and 20-year graft survival was 77.5% (65.6-91.6%) and 74.8% (62.5-89.6%), respectively. At last follow-up visit, 31 patients (77.5%) were receiving a tacrolimus-based immunosuppression. Twelve (32.4%) patients obtained a university diploma or higher, whereas 19 (51.4%) successfully completed high school. 81.1% of patients were active workers or in education, 17.5% had children, and 35% regularly practiced sport. 25 patients answered to the WHOQOL-BREF questionnaire. More than 60% of respondents did not report any disability and the perceived physical status was invariably good or very good. Median scores for physical health, psychological health, social relationships, and environment were 16.6, 14.7, 16, and 15, respectively. Pediatric liver transplantation is associated with excellent long-term survival and good HR-QOL. Psychological health and environment represent areas in which support would be needed to further improve HR-QOL.

Endobronchial Inflammatory Myofibroblastic Tumor in a 3-Year-Old Child.

Inflammatory myofibroblastic tumor (IMT) is a mesenchymal tumor that can occur at any age. However, it is primarily seen in children, with the most common site being in the lung parenchyma, usually present with rare endobronchial lesions. This case reports the incidence in a 3-year-old girl diagnosed with pericardiac pneumonia treated with antibiotics with no clinical improvement. A chest computed tomography (CT) scan identified a 1.5-cm lesion in the left main bronchus. Bronchoscopy revealed complete obstruction of the left main stem bronchus. A left posterolateral thoracotomy was performed. Additionally, a left sleeve upper bronchial resection was conducted under fibroendoscopic control. Definitive histology confirmed IMT. After 2 years of endoscopic follow-up, there is no evidence of recurrence.

DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review.

DICER1 syndrome is a rare genetic disorder that predisposes patients to the development of malignant and non-malignant diseases. Presently, DICER1 syndrome diagnosis still occurs late, usually following surgical operations, affecting patients' outcomes, especially for further neoplasms, which are entailed in this syndrome. For this reason, herein we present a multicenter report of DICER1 syndrome, with the prospective aim of enhancing post-surgical surveillance. A cohort of seven patients was collected among the surgical registries of Pediatric Surgery at the University of Pisa with the General and Oncologic Surgery of Federico II, University of Naples, and the Pediatric Surgery, Regina Margherita Hospital, University of Turin. In each case, the following data were analyzed: sex, age at diagnosis, age at first surgery, clinical features, familial, genetic investigations, and follow-up. A comprehensive literature review of DICER1 cases, including case reports and multicenter studies published from 1996 to June 2022, was performed. Eventually, the retrieved data from the literature were compared with the data emerging from our cohort of patients.

Colistin Therapy, Survival and Renal Replacement Therapy in Burn Patients: A 10-Year Single-Center Cohort Study.

Purpose: Colistin is still a therapeutic cornerstone against multidrug-resistant gram-negative bacteria (MDRGN), mostly when other antibiotics do not gain adequate activity on these strains. In the present study, we evaluated in a cohort of burn patients the relationship between colistin therapy, survival and requirement of renal replacement therapy (CRRT). Patients and Methods: Retrospective study of 133 burn patients treated with iv colistimethate sodium (loading dose 9.0 × 106 IU, maintenance dose 4.5 × 106 IU BID) and 35 treated with other antibiotics for MDRGN infection including Acinetobacter baumannii, Pseudomonas aeruginosa, and Klebsiella pneumoniae between January 2008 and December 2017. Multivariate analysis with logistic regression was used to determine the effect of the predictors such as age, total body surface area (TBSA), third-degree burn areas, Revised Baux score, Charlson comorbidity score, length of stay, colistin dose and duration of treatment, mechanical ventilation, and need of CRRT on in-hospital mortality. To investigate the relationship between colistin and renal function, we focused on survivor patients as the completion of the therapeutic course of colistin represented the basic requirement to analyze its impact on the kidney. Results: Out of 133 colistin- and 35 other antibiotics-treated patients, 83 (62.4%) and 31 (88.6%) survived, and 53 (39.8%) and 3 (9.7%) required CRRT, respectively. The severity of burns, as well as CRRT requirement and mortality, was significantly higher in colistin-treated patients than in other antibiotics-treated patients. Age and TBSA% were the significant predictors of mortality. Out of 83 colistin-treated survivors, 19 (22.9%) required CRRT (9 before and 10 after the start of colistin), and 64 (77.1%) had a normal renal function. No difference about the colistin dose and baseline characteristics, but the revised Baux score was found between the 9 patients requiring CRRT before the colistin course and the 10 patients after. Similarly, among the 64 patients not undergoing CRRT, no difference was found between the patients treated with the cumulative dose of colistin <99.0 × 106 IU (n = 33, median daily dose of 4.0 × 106 IU) and >99.0 × 106 IU (n = 31, median daily dose of 9.0 × 106 IU) about the baseline characteristics and the daily median plasma creatinine over 24 days of therapy. Conclusion: Colistin therapy was associated with more severe burns, mortality, and CRRT requirement. A short course therapy, at appropriate cumulative dosage, can lead to clinical success without a significant association with severe renal impairment.

Endoscopic Treatment of a Severe Vaginal Stenosis Following Battery Insertion in an 11-Year-Old Girl.

Acquired vaginal strictures are rare entities in children. As a result, they are generally difficult to manage and tend to recur despite appropriate initial therapy. This case study reports the staged management of vaginal stenosis following the insertion of a button battery. In this case, an 11-year-old girl experienced at 4 years old a battery insertion in the vaginal canal by her neighbor's son, who was 6-year-old at the time. Two weeks from insertion, the parents noted the foreign body discharge spontaneously. The girl had not complained of any symptoms at the time and had been asymptomatic for many years. In November 2020, she came to the emergency department reporting cramping abdominal pain accompanied by mucopurulent discharge. An abdominal ultrasound showed the presence of hematometrocolpos, and a vaginal stenosis dilation under general anesthesia was performed the following day. After 3 weeks, the stenosis was still present, preventing the passage of Hegar number 4. The girl was subjected to a vaginoscopic stenosis resection utilizing a monopolar hook passed through an operative channel. A Bakri catheter filled with 120 mL of water was left in place. After 10 days, the girl was discharged home with the Bakri inserted. Two weeks after discharge, she was reevaluated in the outpatient setting, where the Bakri was removed with no signs of residual stenosis. Acquired vaginal stenosis could be demanding to treat, particularly with the sole conservative approach. A first-line option can be the Hegar dilation. The endoscopic approach can be a second-line, minimally invasive treatment, but long-term outcomes are difficult to predict.

Intussusception and COVID-19 in Infants: Evidence for an Etiopathologic Correlation.

Nonrespiratory conditions related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections have been largely described. Ileocolic intussusception has been reported in association with SARS-CoV-2 infection in 10 children, raising the possibility of an etiopathologic role for the virus, but none of these cases documented tissue pathology that would have supported SARS-CoV-2 intestinal inflammation. We report 2 cases of intussusception in patients with SARS-CoV-2 infection who were treated at different pediatric tertiary centers in Europe and provide evidence of the presence of the virus in mesenteric and intestinal tissues of the patients.

Pediatric Surgical Care During the COVID-19 Lockdown: What Has Changed and Future Perspectives for Restarting in Italy. The Point of View of the Italian Society of Pediatric Surgery.

Background: The coronavirus disease 2019 (COVID-19) time exacerbated some of the conditions already considered critical in pediatric health assistance before the pandemic. A new form of pediatric social abandonment has arisen leading to diagnostic delays in surgical disorders and a lack of support for the chronic ones. Health services were interrupted and ministerial appointments for pediatric surgical healthcare reprogramming were postponed. As a result, any determination to regulate the term "pediatric" specificity was lost. The aim is, while facing the critical issues exacerbated by the COVID-19 pandemic, to rebuild future perspectives of pediatric surgical care in Italy. Methods: Each Pediatric Society, including the Italian Society of Pediatric Surgery (SICP), was asked by the Italian Federation of Pediatric Associations and Scientific Societies to fill a questionnaire, including the following the main issues: evaluation of pre-pandemic criticalities, pediatric care during the pandemic and recovery, and current criticalities. The future care model of our specialty was analyzed in the second part of the questionnaire. Results: Children are seriously penalized both for surgical treatment as well as for the diagnostic component. In most centers, the pediatric surgical teams have been integrated with the adult ones and the specificity of training the pediatric operating nursing is in danger of survival. "Emotional" management of the child is not considered by the general management and the child has become again an adults patient of reduced size. Conclusion: A new functional pediatric surgical model needs to be established in general hospitals, including activities for day surgery and outpatient surgery. To support the care of the fragile child, a national health plan for the pediatric surgery is required.

Testicular torsion during the COVID-19 pandemic: Results of a multicenter study in northern Italy.

INTRODUCTION: The literature reported an increased avoidance of the Emergency Department (ED) during COrona VIrus Disease 19 (COVID-19) pandemic, causing a subsequent increase of morbidity and mortality for acute conditions. Testicular torsion is a surgical emergency, which can lead to the loss of the affected testicle if a delayed treatment occurs. As testicular loss is time-related, outcome was hypothesized to be negatively affected by the pandemic. OBJECTIVE: The aim is to investigate whether presentation, treatment and outcomes of children with testicular torsion were delayed during COVID-19. STUDY DESIGN: Medical records of pediatric patients operated for testicular torsion of six Paediatric Surgical Units in Northern Italy between January 2019 and December 2020 were retrospectively reviewed. Patients were divided as for ones treated during (dC) or before the pandemic (pC). To reflect possible seasonality, related to lockdown restrictions, winter and summer calendar blocks were also analysed. For all cohorts, demographic data, pre-operative evaluation, operative notes and post-operative outcomes were reviewed. Primary outcomes were referral time, time from diagnosis to surgery and ischemic time, while secondary outcomes were orchiectomy and atrophy rates. Statistic was conducted as appropriate. RESULTS: A total of 188 patients with acute testicular torsion were included in the study period, 89 in the pre-COVID-19 (pC) period and 99 during COVID-19 (dC). Time from symptom onset to the access to the Emergency Department (T1) was not different among the two populations (pC: 5,5 h, dC: 6 h, p 0.374), and similarly time from diagnosis to surgery (pC: 2,5 h, dC: 2,5 h, p 0.970) and ischemic time (pC: 8,2 h, dC: 10 h, p 0.655). T1 was <6 h in 46/99 patients (46%) pC and 45/89 patients (51%) dC (p = 0.88, Fisher's exact test). Subgroup analysis accounting for different lockdown measures, confirm the absence of any difference. Orchiectomies rate was 23% (23/99) dC and 21% (19/89) pC (p = 0.861, Fisher's exact test) and rate of post-operative atrophy was 9% dC (7/76) and 14% pC (10/70), p = 0,44, Fisher's exact test. DISCUSSION: Despite worldwide pediatric ED accesses reduction, we reported that neither ischemic time nor the long-term outcomes in children with testicular torsion increased during the COVID-19 pandemic. In the available literature, few studies investigated the topic and are controversial on the results. Similarly to our findings, some studies found that timing and orchiectomy rates were not significantly different during the pandemic, while others reported a correlation to pandemic seasonality. Furthermore, in the recent pediatric literature it has been reported a delayed testicular torsion diagnosis due to shame in informing parents. Strengths of this study are the large numerosity, its multicentric design and a long study period. Its main limitation is being retrospective. CONCLUSIONS: We reported our large cohort from one of the most heavily COVID-19-affected regions, finding that referral, intra-hospital protocols and ischemic time in testicular torsion were not increased during to the pandemic, as well as orchiectomy rate and atrophy.

Preemptive liver transplantation in a child with familial hypercholesterolemia.

Familial hypercholesterolemia is an autosomal codominant disorder associated with markedly elevated plasma concentration of LDL-cholesterol and increased cardiovascular risk. Homozygous patients have rapid development of atherosclerosis with death from cardiovascular disease even in childhood. Life-long recurrent apheresis to reduce plasma LDL-cholesterol is considered the gold standard for treatment. Liver transplantation can be curative for this condition, but is usually only considered after the development of cardiovascular disease. We report a 5.5-yr-old child initially misdiagnosed with heterozygous familial hypercholesterolemia and treated by low-fat diet only. In view of persistent hypercholesterolemia and development of xanthomatosis, new molecular studies indicated the presence of two different mutations in the LDL receptor gene, with one being a deletion of two exons not identifiable with standard sequencing analysis. Recurrent plasma apheresis in combination with statins lowered, but did not normalize plasma LDL-cholesterol levels. It caused progressive reduction of the size of xanthomas and prevented the development of vascular complications. After two yr, liver transplantation normalized LDL-cholesterol levels and completely resolved the skin lesions. Preemptive liver transplantation is a definitive cure of familial homozygous hypercholesterolemia and might be more effective if performed before development of vascular complications.