Obstructive or non-obstructive megacystis: a prenatal dilemma.

Introduction: Diagnosis of prenatal megacystis has a significant impact on the pregnancy, as it can have severe adverse effects on fetal and neonatal survival and renal and pulmonary function. The study aims to investigate the natural history of fetal megacystis, to try to differentiate in utero congenital lower urinary tract obstruction (LUTO) from non-obstructive megacystis, and, possibly, to predict postnatal outcome. Materials and methods: A retrospective single-center observational study was conducted from July 2015 to November 2023. The inclusion criteria were a longitudinal bladder diameter (LBD) >7 mm in the first trimester or an overdistended/thickened-walled bladder failing to empty in the second and third trimesters. Close ultrasound follow-up, multidisciplinary prenatal counseling, and invasive and non-invasive genetic tests were offered. Informed consent for fetal autopsy was obtained in cases of termination of pregnancy or intrauterine fetal demise (IUFD). Following birth, neonates were followed up at the same center. Patients were stratified based on diagnosis: LUTO (G1), urogenital anomalies other than LUTO ("non-LUTO") (G2), and normal urinary tract (G3). Results: This study included 27 fetuses, of whom 26 were males. Megacystis was diagnosed during the second and third trimesters in 92% of the fetuses. Of the 27 fetuses, 3 (11.1%) underwent an abortion, and 1 had IUFD. Twenty-three newborns were live births (85%) at a mean gestational age (GA) of 34 ± 2 weeks. Two patients (neonates) died postnatally due to severe associated malformations. Several prenatal parameters were evaluated to differentiate patients with LUTO from those with non-LUTO, including the severity of upper tract dilatation, keyhole sign, oligohydramnios, LBD, and GA at diagnosis. However, none proved predictive of the postnatal diagnosis. Similarly, none of the prenatal parameters evaluated were predictive of postnatal renal function. Discussion: The diagnosis of megacystis in the second and third trimesters was associated with live births in up to 85% of cases, with LUTO identified as the main cause of fetal megacystis. This potentially more favorable outcome, compared to the majority reported in literature, should be taken into account in prenatal counseling. Megacystis is an often misinterpreted antennal sign that may hide a wide range of diagnoses with different prognoses, beyond an increased risk of adverse renal and respiratory outcomes.

Squamous Cell Carcinoma Developing in a Buccal Mucosa Graft after Urethroplasty: A Report of 2 Cases of Malignant Degeneration.

Buccal mucosa graft (BMG) was originally described in 1992 for the treatment of challenging cases of hypospadias (proximal or redo cases) and has gained increasingly popularity also when dealing with complicated urethral stenosis, as it is associated with a good outcome. The development of a malignancy in a BMG urethroplasty was reported for the first time in 2017. We report two more cases of a malignant degeneration of a BMG used in a urethroplasty to treat recurrent urethral stricture.

Laparoscopic Repair of a Gastrocolocutaneous Fistula: Percutaneous Endoscopic Gastrostomy Placement Complications in Children.

Background: Gastrostomy tube placement (G-Tube) is a frequently offered procedure in children with feeding difficulties. Various procedures exist for G-Tube, with the pull technique more commonly used for a percutaneous endoscopic gastrostomy (PEG) in children, considered by many to be the safer approach. Major complications requiring reoperation range from 3% to 5%, depending on the study. In our center, PEG placement is performed by gastrointestinal endoscopists through the pull technique. In the last 5 years, there were 150 procedures, with 15 minor and 3 major complications. We will describe the last 3 cases, plus a fourth PEG placement at another center. Patients and Methods: Patients ranged from 2 to 10 years (median age: 4.5 years). Median weight was 10.7 kg (range: 7-18 kg). Patients were neurologically impaired children, except one with severe nephropathy. Results: Laparoscopic repair with a 3-trocar technique was effective, when the patient's general condition allowed for it. After fistula repair, a new gastrostomy was placed; this step can be performed endoscopically under laparoscopic control (or can be performed completely laparoscopically). Conclusions: In 4 patients, we faced unusual PEG placement complications, due to colon interposition during blind gastric puncture. In those with anatomical deformities or previous surgery, or dealing with toddlers (under 10 kg), we suggest laparoscopic-assisted PEG, or a full laparoscopic gastrostomy to avoid the risk of a major complication.

Infantile Abdominal and Pelvic Lipoblastomas: A Case Series.

Lipoblastomas are rare benign mesenchymal tumors that arise from embryonal fat cells. They are usually discovered in infants and children under 3 years of age, and mostly occur in the trunk (from 10 to 60%, depending on the study) and extremities (from 40 to 45%), while head and neck localizations are rare, with only five cases described to date. We report on three cases of lipoblastomas in infants younger than 4 years, with unusual localizations: one intra-abdominal, discovered during a laparotomy for an intussusception; one pelvic, misdiagnosed as an ovarian mass; and one gluteal with a pelvic extension. All children underwent magnetic resonance imaging as preoperative workup. All tumors were completely resected with free surgical margins and ultrasonographic follow-up was uneventful for all patients.

Cystic intra-abdominal masses in children.

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.

Gastrointestinal Autonomic Nerve Tumor of the Colon: A Rare Cause of Persistent Abdominal Pain in a Child.

Gastrointestinal autonomic nerve tumor (GANT) is extremely rare and considered a variant of gastrointestinal stromal tumors (GISTs). GANT originates from the intestinal autonomic nervous system mostly of small intestine or the stomach. We report a colonic GANT diagnosed in a 5-year-old child who presented with abdominal pain and fever for a long period. Colonic resection and end to end anastomosis proved curative without the need of chemo-radiotherapy. Given the rarity of the tumor, the patient is on our long term follow-up.

Correction: the complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life.

[This corrects the article on p. 257 in vol. 17, PMID: 25587526.].

The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life.

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.

Successful medical treatment for ranula in children.

OBJECTIVES: We compare the outcome of medical treatment for ranula versus surgery in children. STUDY DESIGN: Multicentric cohort study. METHODS: The case series includes 37 children with ranulas (diameter 2.7 ± 1.5 cm). Eighteen patients, including 3 who had relapsed after either simple marsupialization or ranula removal alone, received oral nickel gluconate, mercurius heel, and glandula submandibularis suis D10/D30/D200. Fifteen cases underwent marsupialization with packing, and 2 underwent sublingual gland and ranula en-bloc excision. Two patients who recovered spontaneously shortly after diagnosis were excluded. RESULTS: No recurrences occurred among medical patients. Of the 17 surgical patients, 3 treated with marsupialization with packing relapsed. With the 3 surgical failures from other centers a total of 6 of 20 relapses were considered. Swelling or tension was common in surgical cases but unusual in medical patients. CONCLUSIONS: In this case series oral medical treatment for ranula was very effective and more effective than marsupialization with packing.