[The role of new molecular tests in the diagnosis of melanoma in a setting of congenital nævus in an infant]. / Apport des nouveaux tests moléculaires dans le diagnostic d'un mélanome sur nævus congénital chez un nourrisson.

INTRODUCTION: Congenital and infantile melanomas are extremely rare. We report a case of a child presenting at birth with a giant congenital nevus complicated by melanoma and on long-term follow-up with exploration using new immunohistochemistry and molecular biology tools. OBSERVATION: A new-born girl presented at birth with a large congenital cervico-mandibular tumour with para-pharyngeal extension and underlying osteolysis. At 7 months, histology and immunohistochemistry of the operative specimen revealed nodules with atypical features (mitotic figures, necrosis and positive expression of KI67 and P53 in approximatively 50 % of the melanocytic nuclei). A diagnosis was made of infantile melanoma associated with congenital nevi. Repeated surgery and monitoring (clinical and imaging) were performed. At the age of 7 years, as there was no evidence of metastatic lesions, further analyses were performed on the initial operative specimen. Investigation of transcription factor expression using immunohistochemistry, comparative genomic hybridization and histology-guided mass spectrometry, although suspect, did not in itself support a diagnosis of melanoma. Finally, at the age of 7 years, hepatic and pulmonary metastases were reported. Despite combined immunotherapy with ipilimumab and nivolumab, the child died 5 months later. CONCLUSION: This case illustrates the complexity of diagnosis of infantile melanoma and the risk of metastatic involvement long after the initial diagnosis. Diagnosis may be difficult and necessitates expert advice and the application of several recent methods to reach a conclusion and initiate appropriate treatment.

Anatomical study of the inferior vesical artery: is it specific to the male sex?

PURPOSE: The aim of our study was to clarify the origin of the inferior vesical artery and determine its existence in women. METHODS: This descriptive study is based on 25 dissections (6 male and 19 female cadavers). We dissected the internal iliac artery and its branches from the iliac bifurcation, bilaterally and comparatively. Each arterial branch supplying the bladder was identified and dissected as far as the bladder. RESULTS: In total, 50 topographies of the bladder vascularization were visualised. The inferior vesical artery was observed in 92% of the male subjects and in 47.4% of the female subjects. In the male cadavers, it arose from the internal iliac artery in 72.7% of cases and from the umbilical artery in 27.3% of cases. In the female cadavers, it arose from a common trunk with the umbilical artery and the uterine artery in 33.3% of cases and directly from the umbilical artery in 33.3% with one terminal branch supplying the upper part of the vagina. In two female subjects, the inferior vesical artery arose from the first segment of the uterine artery (22.2%), and in one subject from the obturator artery (11.1%). CONCLUSIONS: The inferior vesical artery is not specific to the male sex. The contradictions found in the literature of this artery are due to the variations observed in pelvic vascularization and to the close connections between vaginal and bladder vascularisation in women. However, surgeons should consider these variations, to prevent bladder devascularization by non-selective ligation.

[Testicular torsion in children: Factors influencing delayed treatment and orchiectomy rate]. / Torsion du cordon spermatique chez l'enfant : impact du mode de consultation sur le délai de prise en charge et le taux d'orchidectomie.

INTRODUCTION: Acute scrotal pain is a true surgical emergency as patients presenting with acute scrotal pain may suffer from spermatic cord torsion and gonadal loss. We assessed whether the type of consultation (first consultation in our center or secondary transfer from a peripheral hospital or primary care practice), distance from home to hospital, and duration of pain had an impact on the orchiectomy rate. PATIENTS AND METHODS: We retrospectively reviewed the medical records of all patients under 15years of age suffering from acute scrotal pain who had surgical exploration between January 2007 and January 2010 in our center. Patient demographics, transfer status, time to consultation in our center, time to surgery, operative findings and clinical outcome were reviewed. RESULTS: Of the 76 patients with acute scrotal pain in whom surgical exploration was performed, 59 had acute spermatic cord torsion, 16 had torsion of the testicular appendage, and 1 had orchitis. In patients with acute spermatic cord torsion, the median age was 13 years (range: 0.18-14.97). In patients with acute spermatic cord torsion, 32 came straight to our center (direct admission group, 54.2%), and 27 (45.8%) came after a prior consultation out of side the center (transfer group). The median journey was 19km (range: 2.5-113) in the direct admission group and 44km (range: 2.5-393) in the transfer group (P=0.0072). The median time between pain onset and consultation at our center was 4.3h (range: 0.5-48) in the direct admission group, and 11h (range: 2-48) in the transfer group (P=0.6139). The median time between admission at our center and surgery was 2.5h, with no difference between the 2 groups (P=0.8789). The orchiectomy rate was 25% in the direct admission group and 14.8% in the transfer group (P=0.5177). In children who underwent orchiectomy, the duration of pain was consistently over 6h. The duration of pain was greater in patients with orchiectomy (12h [range: 1-72]) than in patients without orchiectomy (12h [range: 6-48]; P=0.0001). CONCLUSION: In this study, the orchiectomy rate depended on the duration of pain but not on transfer status. Acute scrotal pain must lead to surgical exploration as soon as possible, requiring close collaboration between peripheral hospitals, primary care physicians, and referral centers.

Ovarian cysts in prepubertal girls.

Visualization of follicles is perfectly physiological during childhood, their diameter generally does not exceed 10 mm. Ovarian cyst in childhood is well defined for a fluid image >20 mm. Generally mild and asymptomatic, ovarian cysts are fluid formations usually discovered incidentally by ultrasound. Some are hormonally active and cause the development of sexual characteristics. The natural history of functional cysts is eventual regression, and persistence is suggestive of organic tumor. The onset of pain is a sign of complication, and an abrupt sharp pain with vomiting is suggestive of ovarian torsion, in which case surgical intervention is urgent. In all cases, the diagnosis is based on pelvic ultrasound. MRI and tumor marker assays are required to determine the nature of an organic cyst before proceeding to surgery. These cysts may appear functional from the fetal period onward and will require management from the first days of life. Certain endocrine disorders such as precocious puberty, hypothyroidism, and aromatase deficiency cause functional cysts in girls. Recurrent bleeding is due to hormonally active cysts and suggests McCune-Albright syndrome. Although the persistence of a cyst suggests a neoplasm, a fluid character indicates benignity. Imagery is a useful aid in the diagnosis of epithelial tumors (cystadenomas) or teratoma (dermoid cyst).

[Retrotracheal left pulmonary artery: case report with an embryologic and anatomic update]. / Artère pulmonaire gauche rétrotrachéale : mise au point embryologique et anatomique.

The accidental discovery of a retrotracheal left pulmonary artery in a 4-month-old infant encouraged us to review the various embryologic theories concerning this very rare anomaly and perform an anatomic update in order to better define surgical treatment. Nathan underwent surgery for a bilateral inguinal hernia at the age of 4 months. The postoperative period was marked by malaise associated with dyspnoea, stridor, tachycardia and sweating. A X-ray of the thorax, oesophageal transit and angio scan presented an intertracheo-oesophageal left pulmonary artery and a reimplantation of the left pulmonary artery was successfully performed. A retrotracheal left pulmonary artery is a very rare malformation. From development of pulmonary vascularisation, three embryologic theories have been advanced to explain this anomaly. From an anatomic point of view, Landing et al. proposed in 1982 a classification system of retrotracheal left pulmonary artery. Today, current radiological techniques not only provide a precise diagnosis but also make it possible to define appropriate care for the different types of this malformation.

Congenital anterior urethrocutaneous fistula associated with a stenosis of the bulbar urethra in the context of high anorectal malformation without fistula.

SUMMARY: Congenital anterior urethrocutaneous fistulas are infrequent. We report a case of a congenital anterior urethrocutaneous fistula associated with a stenosis of the bulbar urethra in the context of a high anorectal malformation. We describe the surgical technique for the reconstruction of the urethra.

[Conservative treatment of traumatic rupture of the biliary ducts: a case report]. / Traitement conservateur des ruptures traumatiques des voies biliaires: à propos d'un cas.

The diagnosis of a biliary duct transection after blunt trauma is difficult in children. Surgery is often performed late and therefore complicated. We present a case of mini-invasive approach for biliary duct transection in a 12-year-old child and review the literature. Transhepatic cholangiography is at the moment the most used technique to make the diagnosis but necessitates general anaesthesia. Stent placement is possible by the way. Endoscopic retrograde cholangiogram (ERCP) has been proposed even in children. Stent placement may be easier by this technique. For the diagnosis, Technetium 99m dimethylminodiacetic acid (HIDA) scanning seems interesting in terms of both sensitivity and specificity. Another promising diagnostic technique is MRI with 3D reconstruction.

Long-term outcome of laparoscopic Nissen and Toupet fundoplication in normal and neurologically impaired children.

BACKGROUND: Laparoscopic fundoplication is a commonly performed procedure in children. This report describes the incidence of long-term recurrence and complications after laparoscopic Nissen or Toupet fundoplication in neurologically impaired and normal children. METHODS: Fifty-three children operated on before 1999 were reviewed. All children were evaluated clinically and with a barium meal study thereafter. Symptomatic children and those with abnormal barium meal underwent 24 h pH monitoring. RESULTS: A total of 45 patients were included in the study. The mean follow-up was 4.5 years. All, except one asymptomatic child that declined, had a barium meal. Four were abnormal (2 parahiatal hernias and 2 slight episodes of reflux). Four patients had symptoms related to the operation and 2 to clinical recurrence. Only 1 asymptomatic child with slight reflux at barium meal revealed abnormal 24 h pH monitoring. Finally, 6.6% patients were found to have late recurrence (2 clinical and 1 pHmetry). There was an obvious increase in children's weight, especially in neurologically impaired patients. CONCLUSION: Laparoscopic antireflux surgery is of value in children with gastroesophageal reflux disease. The long-term results are comparable with open surgery, and there was no difference in term of wrap failure between neurologically impaired and normal children.

An extensively hydrolysed cow's milk formula improves clinical symptoms of gastroesophageal reflux and reduces the gastric emptying time in infants.

BACKGROUND: About 20 % of infants fed with breast-milk substitutes suffer from Gastro Esophageal Reflux (GER) and 1/3 of them also show Cow's Milk Allergy (CMA) symptoms. METHODS: We planned this study to assess by dynamic echography the usefulness of an Extensively Hydrolysed Cow's Milk Formula (eHF) in infants suffering from GER. Ten infants showing GER symptoms and 10 normal babies, all fed with breast-milk substitutes, were enrolled. Clinical symptom scores related to GER were assessed for one week. The Gastric Emptying Time (GET) was determined by means of dynamic echography after feeding with cow's milk-derived formulae and again after a week feeding with eHF in subjects previously showing GER symptoms. RESULTS: All infants with a clinical diagnosis for GER showed an abnormally high average GET in comparison to normal subjects (205 vs 124 min, p = 0.000). Switching to the eHF led to a significant clinical improvement (p = 0.0039) especially in babies skin-test and RAST positive to cow's milk, and to a significant decrease toward the normal value of the GET (167 min, p < 0.001). CONCLUSIONS: The eHF tested improves GER symptoms in infants suffering from this disease. Our experience confirms and supports the use of dynamic echography as a reliable, simple, and non-invasive diagnostic method for infants with an increased GET associated with clinical symptoms of GER.

Laparoscopic diagnostic exploration of the vaginal processus in the pediatric age. Preliminary experiences.

BACKGROUND: Laparoscopic surgical procedures, employed even in the paediatric age, bearing both diagnostic and therapeutic value, are currently used in the evaluation of peritoneal-vaginal duct patency during surgery for controlateral inguinal hernia or other diseases requiring opening of abdominal wall. METHODS: From January 1996 to December 2000, at the Department of Pediatric Surgery of the University of Siena a prospective study protocol has been performed to evaluate the effectiveness of laparoscopy versus traditional surgery in showing patency of peritoneal-vaginal duct. RESULTS: From our study we have been able to see how this laparoscopic procedure is well tolerated by children and parents, and is lacking in clinical complications. Patency of peritoneal-vaginal duct has been pointed out in 21.73% of cases. This result is in line with the international literature; in fact, the majority of authors have found a negative controlateral exploration in 50-80% of patients examined, thus confirming the uselessness of routine surgical controlateral inguinal exploration in hernia cases. CONCLUSIONS: The use of diagnostic laparoscopy in the study of peritoneal duct patency is a rapid and relatively easy technique, practically without intra- and peri operative risks. It allows an easy solution of the diagnostic doubt, without the need to necessarily perform a traditional explorative surgical procedure.

An extensively hydrolysed cow's milk formula improves clinical symptoms of gastroesophageal reflux and reduces the gastric emptying time in infants

Background: About 20 % of infants fed with breast-milk substitutes suffer from Gastro Esophageal Reflux (GER) and 1/3 of them also show Cow's Milk Allergy (CMA) symptoms. Methods: We planned this study to assess by dynamic echography the usefulness of an Extensively Hydrolysed Cow's Milk Formula (eHF) in infants suffering from GER. Ten infants showing GER symptoms and 10 normal babies, all fed with breast-milk substitutes, were enrolled. Clinical symptom scores related to GER were assessed for one week. The Gastric Emptying Time (GET) was determined by means of dynamic echography after feeding with cow's milk-derived formulae and again after a week feeding with eHF in subjects previously showing GER symptoms. Results: All infants with a clinical diagnosis for GER showed an abnormally high average GET in comparison to normal subjects (205 vs 124 min, p = 0.000). Switching to the eHF led to a significant clinical improvement (p = 0.0039) especially in babies skin-test and RAST positive to cow's milk, and to a significant decrease toward the normal value of the GET (167 min, p < 0.001). Conclusions: The eHF tested improves GER symptoms in infants suffering from this disease. Our experience confirms and supports the use of dynamic echography as a reliable, simple, and non-invasive diagnostic method for infants with an increased GET associated with clinical symptoms of GER (AU)

Antecedentes: Alrededor del 20 por ciento de los niños alimentados con sustitutivos de leche materna padecen reflujo gastroesogáfico (GER) y un tercio de ellos además muestran síntomas de alergia a la leche de vaca (CMA). El estudio fue diseñado para, mediante ecografía dinámica, evaluar la utilidad de la fórmula de leche de vaca ampliamente hidrolizada (eHF) en niños que padecen GER. Métodos: Fueron reclutados 10 pacientes que mostraban síntomas de GER y 10 bebés normales, todos ellos alimentados con sustitutivos de leche materna. Los valores de síntomas clínicos relacionados con el GER fueron evaluados durante una semana. El tiempo de vaciamiento gástrico (GET) fue determinado mediante ecografía dinámica después de alimentar con fórmula derivada de leche de vaca a pacientes que mostraban previamente GER, y otra vez después de una semana, en pacientes alimentados con eHF. Resultados: Todos los niños con diagnóstico clínico de GER mostraron un nivel anormalmente alto de GET en comparación con los niños normales (205 vs 124 min, p = 0,000). El cambio a la alimentación con eHF indujo a una mejora clínicamente significativa (p = 0,0039) especialmente en bebés con pruebas cutáneas y RAST positivo a leche de vaca y un descenso significativo a valores normales del GET (167 min, p < 0,001).Conclusiones: El eHF estudiado mejora los síntomas de GER en niños que padecen dicha enfermedad. Nuestra experiencia confirma y apoya el uso de la ecografía dinámica como un método de diagnóstico fidedigno, simple y no invasivo para niños con un aumento del GET asociado a síntomas clínicos del GER (AU)

[Cervical lymphadenitis caused by mycobacteria. Our experience]. / Linfoadeniti cervicali da micobatteri. Nostra esperienza.

BACKGROUND: Mycobacterial infections are extremely complex diseases, either due to the various clinical manifestations, or to the various involved kind of mycobacteria, or to the different sensibility to antibiotics. The authors review retrospectively their series, evaluating the management of pediatric cervical lymphadenitis due to mycobacterical etiology. METHODS: From 1975 to 1998, at the Department of Pediatric Surgery of the university of Siena, 88 children were evaluated for laterocervical lymphadenopathy. Among these, 29 children, aged from 14 months to 13 years, were diagnosed as affected with lymphoadenopathy due to mycobacteria. Therapy of choice was the association of surgery and antibiotics. This behaviour allowed us to approach both advanced lesions, in active colliquation, and progressive ones. RESULTS: Results were unquestionably positive, with a complete resolution and good esthetical results in 93.2% of cases. In 6.8% of cases there was a recurrence, which required reintervention. CONCLUSIONS: On the basis of our series, we agree with the international literature in affirming that, in cases of mycobacterial lymphadenopathy, a combined antibiotic and surgical therapy is necessary. However, controversy about such a complex and difficult pathology is opened and unsolved.

[Gaseous myelography. Accidents and complications. Case reports]. / Mielografia gassosa. Incidenti e complicanze. Contributo clinico.

Attention is called to the risks of gas myelography and two cases of complications are described. One of these, observed personally, was fatal and its possible pathogenetic mechanisms are illustrated. Stress is laid on certain rules and precautions that should be respected in radiological and anaesthesiological practice. Insufflation pressure and volumes of injected air deserve particular attention and scrupulous intraoperative control cut of vital parameters must be carried and appropriate attention paid to patient hydration during the postoperative period.