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Introduction: Pediatric thyroid carcinoma represents about 4-5% of all pediatric carcinoma with an incidence of 0.5 cases/100,000, compared to 2-10/100000 cases in the adult population. The aim of this study is to present the experience of a reference adult endocrine surgery unit in charge of the treatment of pediatric thyroid diseases., Materials and Methods: From January 2019 to September 2022, 25 patients, aged 5-17, underwent thyroid surgery. We analysed indications for surgery, use of intraoperative nerve monitoring (IONM), definitive histological examination, postoperative outcomes and risk factors related., Results: Surgical indication was performed for Graves' disease (27%) and for nodular pathology (73%): of these, four were malignant lesions (TIR4/TIR5), eight with indeterminate characteristics (TIR3A/TIR3B) and four characterized as benign (TIR1/TIR2). Total thyroidectomy (TT) was performed in 76% of cases, three of which were prophylactic for the activation of the RET gene mutation in MEN 2A. IONM was used in eight cases (32%), all patients aged 11 years or less. FNA's accuracy was 100% for lesions typified as benign and malignant (TIR1/TIR2 and TIR4/TIR5). The overall malignancy rate achieved was 40% and in the final histological examination 75% of the TIR 3B lesions were malignant. Six patients (24%) developed hypoparathyroidism in the first postoperative day, with normalization of calcium values within thirty days in 5 patients., Conclusions: Pediatric thyroid nodules are rare and distinguished from adult thyroid disease by a worse prognosis and higher malignancy rates. Our work reports a much higher malignancy rate among indeterminate TIR 3B lesions than observed in the adult population and the three patients who underwent prophylactic total thyroidectomy for activating RET gene mutation had all a definitive histological diagnosis of medullary carcinoma. Post-surgical hypoparathyroidism is a common finding in these patients: in most cases the condition is transient and it benefits from supportive therapy. Intraoperative finding of a thinner recurrent laryngeal nerve in younger patients makes nerve isolation more difficult than in adult surgery: IONM is recommended in patients under 12. Pediatric thyroid surgery is challenging, we sustain it requires referral thyroid Centers for thyroid disease with highly skilled general endocrine surgeons., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Quaglino, Bellocchia, Tuli, Munarin, Matarazzo, Cestino, Festa, Carbonaro, Oleandri, Manini, Vergano and De Sanctis.)

Malrotation of the gut is a rare occurrence, commonly diagnosed during childhood, but occasionally diagnosed in adults. In children, intestinal obstruction is the most common manifestation, whereas in adult patients, the diagnosis is more challenging since the symptoms are less specific with several episodes of abdominal pain and vomit. In a particular epidemic period, like the one we are going through, these generic symptoms may mislead to a wrong diagnosis. We present the case of a young man in which occlusion due to intestinal malrotation has been misinterpreted as gastroenteric symptoms of severe acute respiratory syndrome coronavirus 2 infection, and we also overview the correct Ladd's technique, commonly performed by pediatrical surgeon, but unusual operation for adult general surgeons., (Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2021.)

Acute necrotising pancreatitis (ANP) is associated with high complication and mortality rates. It is still difficult for the surgeon to choose and schedule the most appropriate treatment. Compared to the past, the current minimally invasive "step-up" approach enables better outcomes in terms of morbidity/mortality, notwithstanding long periods of hospitalisation, and above all ensures better levels of residual pancreatic function. We hereby report the case of a patient hospitalised in our division for approximately 4 months with a diagnosis of ANP complicated by infection and late bleeding, handled with a sequential approach., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2021 by S. Karger AG, Basel.)

Benign intra-abdominal cystic masses in infancy are fairly uncommon and their etiopathogenesis, histology and clinical presentation differ significantly. Our aim is to report our experience in their treatment in order to discuss the best diagnostic and treatment modality. The medical records of 5 children (2M, 3F) with cystic intraabdominal masses referred to our hospital between November 2012 and September 2016, were retrospectively reviewed. All patients underwent open surgery and subsequent histopathologic analysis. Different clinical presentations, localizations of the masses, diagnostic tools, surgical approaches, histological examinations and outcomes were reviewed. Patients mean age was 5.4 years (range: 8 months-9 years). Two patients presented recurrent abdominal pain and abdominal distension; 1 patient had a palpable mass discovered incidentally and 2 complained acute abdominal pain. Routine laboratory tests, tumor markers and abdominal ultrasound were immediately done in all patients. Three patients underwent MRI and 1 abdominal CT. At laparotomy 2 hepatic cysts, 2 mesenteric cyst and 1 retroperitoneal cyst were discovered. Histology reports described: 1 hepatobiliary cystadenoma, 1 benign hepatic hamartoma and 3 cystic lymphangiomas (1 retroperitoneal and 2 mesenteric). There were no major postoperative complications, deaths, or recurrences in our series (follow-up 3-24 months). Despite the rarity of these lesions, benign cystic abdominal masses in children are not so uncommon and should be considered as causes of acute abdominal pain. The differential diagnosis is not always possible preoperatively. In our series, radical excision of the lesions was possible in all cases, allowing reliable histological results and avoiding recurrences.

Aim: The aim of the present study was to investigate the influence of the cytochrome P450 (CYP) 3A4/5 genotype in paediatric liver transplant recipients and donors, and the contribution of age and gender to tacrolimus disposition on the first day after transplantation., Methods: The contribution of the CYP3A4/5 genotype in paediatric liver transplant recipients and donors to the tacrolimus blood trough concentrations (C 0 ) and the tacrolimus concentration/weight-adjusted dose ratio on day 1 was evaluated in 67 liver-transplanted children: 33 boys and 34 girls, mean age 4.5 years., Results: Donor CYP3A5 genotype appears to be significantly associated with tacrolimus disposition on the first day after liver transplantation (P < 0.0002). Other physiological factors, such as recipient age and donor gender may also play a role and lead to significant differences in tacrolimus C 0 and tacrolimus concentration/weight-adjusted dose ratio on day 1. However, according to the general linear model, only recipient age appears to be independently associated with tacrolimus disposition on the first day after liver transplantation (P < 0.03). Indeed, there was a faster tacrolimus metabolism in children under 6 years of age (P < 0.02)., Conclusions: Donor CYP3A5 genotype, recipient age and, to a lesser extent, donor gender appear to be associated with tacrolimus disposition on day 1 after transplant. This suggests that increasing the starting tacrolimus doses in paediatric patients under 6 years of age who receive a graft from a male extensive metabolizer may enhance the possibility of their tacrolimus levels reaching the therapeutic range sooner., (© 2017 The British Pharmacological Society.)

An emphysema in a lower limb is usually a clinical sign of a severe and life-threatening infection. We report a rare case of subcutaneous emphysema of the left lower limb associated with a massive retro-pneumoperitoneum and pneumatosis intestinalis after cardiac transplantation in a 4-year-old girl. The child was nearly asymptomatic beside an abdominal distension. A benign pneumoperitoneum associated with an extensive pneumatosis intestinalis is a rare complication after organ transplantation and should be treated conservatively. The association with an emphysema in a lower limb in a child has not been previously reported to our knowledge in the literature., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Pyogenic granuloma is a benign vascular tumor that may affect the gastrointestinal tract. This report describes a rare case of sigmoid-colon pyogenic granuloma in a 4-month-old boy causing intussusception. Resection and anastomosis were curative. The mother had history of high dose of progesterone exposure during initial weeks of conception for vaginal bleeding. This may point towards etiology of the lesion.

Feeding gastrostomy is used worldwide for adults and children with feeding impairment to obtain long-term enteral nutrition. Percutaneous endoscopic gastrostomy insertion is considered the gold standard, but after the first months requires gastrostomy tube replacement with a low-profile button. The replacement is known as an easy procedure, but several minor and major complications may occur during and after the manoeuvre. We describe intraperitoneal bumper migration in a 3-year-old boy, a rare complication following gastrostomy tube replacement, and we discuss the recent literature regarding similar cases.

Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastrointestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prognosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meconium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion (c.313ΔTATC; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A). He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management.

We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol biosynthesis characterized by high lathosterol levels associated with progressive cholestasis, multiple congenital anomalies and mental retardation. From her diagnosis at age 2 she had shown autistic behavior, was unable to walk unaided and her sight was impaired by cataracts. By age 7 she developed end-stage liver disease. After a soul-searching discussion within the transplantation team, she was treated with LT as this represented her only lifesaving option. At 1-year follow-up, her lathosterol levels had returned to normal (0.61 mg/dL from 13.04 ± 2.65) and her nutrition improved. She began exploring her environment and walking by holding onto an adult's hand and then independently. Her brain magnetic resonance imaging (MRI) had shown a normal picture at age 1, whereas a volume reduction of white matter with ex vacuo ventricular dilatation and defective myelinization were observed before transplant. At 5-year follow-up, a complete biochemical recovery, an arrest of mental deterioration and a stable MRI picture were achieved, with a return to her every day life albeit with limitations. Timely liver transplant in defects of cholesterol biosynthesis might arrest the progression of neurological damage., (© Copyright 2014 The American Society of Transplantation and the American Society of Transplant Surgeons.)

Ectopic adrenocorticotrophic hormone (ACTH) secretion is a rare cause of Cushing syndrome in paediatric age, due to tumours arising from different tissues. To date, only 11 reports of ACTH-secreting pancreatic tumours in children and adolescents exist in the literature. We present a paediatric case of Cushing syndrome caused by ectopic ACTH secretion. This was caused by a large acinar cell carcinoma that developed in the pancreas of a 3-year-old girl.

Aim of the Study: To evaluate morbidity and functional results of surgical treatment in patients with Graves' disease., Methods: A retrospective study was performed in 108 patients operated on during 1993-2003. Main indications for surgery were failure of treatment with antithyroid drugs (80.6%), large goiter (46.3%) and/or severe ophthalmopathy (23.1%). Surgical procedures were extensive subtotal thyroidectomy (EST; n = 33; uni- or bilateral remnant of <2 g) or total thyroidectomy (TT; n=75). Functional results were established in 89 patients (27 EST patients and 62 TT patients) after a mean follow-up of 5.9 years., Results: Operative mortality was zero. There were 4 (3.7%) transient unilateral recurrent laryngeal nerve (RLN) palsies and no cases of permanent RLN palsy. Temporary hypocalcemia occurred in 15 patients (13.9%) and permanent hypoparathyroidism resulted in two (1.9%). Four patients (3.7%) developed a postoperative hematoma that required reoperation. There was no significant difference in the rate of complications between EST and TT, although temporary hypocalcemia was more common following TT than EST (17.3% vs. 6.1%) and permanent hypoparathyroidism affected only TT patients. None of the patients developed recurrent hyperthyroidism; all patients are maintained on levothyroxine., Conclusions: Surgery is an effective therapy for selected cases of Graves' disease. When performed by experienced surgeons, it can be carried out with no mortality and minimal morbidity. EST (with uni- or bilateral remnant of <2 g) and TT are both effective in order to achieve a definitive cure of hyperthyroidism.

Introduction: Particular problems in MEN 1 syndrome come from the morphological identification of pancreatic tumors because of their are often small [<1 cm] and multiple [89% of the cases]. However intraoperatively it could be difficult to identify with palpation the tumors described by preoperative investigations and to decide the most suitable surgical treatment. The authors describe one case recently observed to underline and update the correct management., Case Report: A 34 year old woman was admitted for the surgical treatment of an insulinoma. Polimenorrea, hypercalcemia and familiarity for MEN 1 syndrome were also present. A CT scan showed the tumors in the body and tail of the pancreas [diameter 0.5-1 cm]. MRI described only a small mass in pancreatic head. A calcium angiography was positive for insulin secretion after calcium infusion in hepatic and gastroduodenal artery, and for glucagon secretion after infusion in splenic artery. An intraoperative ultrasonography discovered three nodules that were enucleated. They were one insulinoma and two glucagonomas respectively. After enucleation glycemia became immediately normal., Conclusion: To avoid wide surgical resections [es. left pancreatectomy] we suggest a conservative treatment [multiple enucletion with or without a pancreatic-jejunum side-to-side anastomosis] with a meticulous preoperative and intraoperative evaluation of all pancreatic nodules.

Bone marrow transplant is currently the treatment of choice for a number of haematological neoplasms. High doses of antiblastic drugs, immunosuppressive agents and acute graft versus host disease before and after bone marrow transplant cause toxic damage to the liver and to the gastrointestinal tract. Related acute abdominal complications often need emergency surgical treatment with a 30-60% mortality rate. In these patients the surgical strategy is complex and hard to schematise. Ninety-one patients undergoing bone marrow transplantation showed acute abdominal symptoms requiring thorough surgical monitoring: 51 had ileocolitis, 17 pancreatitis, 9 cholangitis, 6 cholecystitis, 6 appendicitis, and 2 gastric perforation. Nine patients needed an emergency operation (2 gastroduodenal resections, 1 ileal resection, 2 right hemicolectomies, 2 total colectomies, 1 cholecystectomy and one appendectomy. The operative mortality was 22.2%. Positive blood cultures were quite frequent (63.7%). Moderate granulocytopenia was observed (neutrophils: 500 x mm3) in about 40% of cases, and severe granuloctopenia in only one patient (neutrophils: 100 x mm3) with ileotyphlitis. Moderate thrombocytopenia (PLTS < 50,000 x mm3) was observed in 43.9% of cases while in three cases (all submitted to surgical treatment) the platelet count was < 5,000 x mm3. The recent increase in bone marrow transplants has led to a progressive rise in the number of patients with acute abdominal complications. When deciding the surgical strategy in treating acute abdominal complications the surgeon must consider that surgical intervention is indicated only after unsuccessful medical treatment and that the intestinal segment involved must always be removed as far as possible; severe neutropenia, thrombocytopenia (< 10,000 x mm3) and positive blood cultures, especially for CMV, are unfavourable prognostic factors.