A.L. Bulotta

Herlyn–Werner–Wunderlich syndrome: An “early” onset case report and review of Literature

Highlights • We describe a case of a 3 years old girl, with all features of Herlyn–Werner–Wunderlich syndrome (HWWS) who came to our attention for lower abdominal mass.• Only six cases are reported in Literature with early onset of this syndrome under 5 years.• The aim of this article is to share our experience and focus the attention on the importance of high level of suspicion of HWWS in neonatal period to early diagnosis and treatment.• The possible early presentation of this syndrome should be suspected in all neonates (females) with renal agenesia confirmed postnatally or with prenatal diagnosis.• An error of evaluation with planning of removal of mass, that can damage patients in term of chance for a successful reproductive outcome.• Our team consider HWWS as differential diagnosis in newborn with prenatal ultrasonography of a cystic mass behind the urinary bladder in the absence of a kidney and plan a pelvic ultrasound (with aim to identify an uterus, normal or dydhelfus, and presence or absence of pelvic mass), an examination under anesthesia and cisto-vaginoscopy, if it is necessary. A high level of suspicion, indeed, is the key to early diagnosis.

Preoperative distraction in children: hand-held videogames vs clown therapy.

Anxiety in children undergoing surgery is characterized by feelings of tension, apprehension, nervousness and fear which may manifest differently. Postoperative behavioural changes such as nocturnal enuresis, feeding disorders, apathy, and sleep disturbances may stem from postoperative anxiety. Some Authors pointed out that over 60% of children undergoing surgery are prone to developing behavioural alterations 2 weeks after surgery. Variables such as age, temperament and anxiety both in children and parents are considered predictors of such changes.1 Studies were published describing how psycho-behavioural interventions based on play, learning and entertainment in preparing children for surgery, may reduce preoperative anxiety. Clown-therapy is applied in the most important paediatric facilities and has proved to diminish childrens emotional distress and sufferance, as well as consumption of both analgesics and sedatives and to facilitate the achievement of therapeutic goals. The aim of our study was to evaluate the efficacy of clown-therapy during the childs hospital stay, with a view to optimizing treatment and care, preventing behavioural alterations and enhancing the childs overall life quality.

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.

We report on seven Iraqi patients with 46,XY karyotype and ambiguous genitalia characterized by perineo-scrotal hypospadias, bifid scrotum, clitoris like phallus, palpable testes in inguinal canal and pseudovagina. Patients were raised five as females and two as males. They are all unrelated with the exception of two couples of brothers. The diagnosis of 5-α-reductase-2 deficiency syndrome was first hypothesized on clinical grounds and then confirmed by molecular analysis. Direct sequencing analysis of the SRD5A2 gene revealed in five patients a novel homozygous frame-shift mutation (c.453delC) and in two related patients a previous reported missense mutation. The presence of the same mutation in unrelated patients of the same population suggests a possible founder effect. This report brings the 5-α-reductase-2 deficiency syndrome to the attention of clinical geneticists and child surgeons and discusses the appropriate clinical and surgical strategies for treating these patients.

Juvenile granulosa cell tumor of the testis: prenatal diagnosis and prescrotal approach.

Neonatal testicular tumors are rare and should be considered in the differential diagnosis of newborn scrotal masses. Juvenile granulosa cell tumor (JGCT) accounts for about 5% of all prepubertal testis tumors. As a benign neoplasm, radical orchiectomy is sufficient for treatment. We report a case of a newborn with a prenatal diagnosis of scrotal mass. After surgery, the histological diagnosis was juvenile granulosa cell tumor. To date the patient is healthy.

Uncommon surgical emergencies in neonatology.

Objective. Over the past decade, multiple factors have changed the pattern of neonatal surgical emergencies. An increase in prenatal screenings and the development of neonatal tertiary care centres have changed the clinical approach to these kids. Materials and methods. Between 1995 to 2011 were retrospectively reviewed 34 patients with diagnosis of uncommon rare neonatal surgical emergencies at our institute. We analyzed: sex, gestational age, weight at birth, primary pathology, prenatal diagnosis, associated anomalies, age and weight at surgery, clinical presentation, start of oral feeding and hospitalization. The follow-up was performed at 6,12, 24 and 36 months. Results. There were 21 male and 13 female. The gestational age ranged between 28 and 36 weeks. The weight at birth ranged between 700 and 1400 grams. Oral feeding was started between 4th and 10th postoperative day. The average hospitalization was about 70.47 days. To date, all patients have finished the followup. They are healthy. Conclusion. The outcome of the patients with uncommon surgical emergencies is different based on the etiology. Overall survival is generally good but is influenced by the associated anomalies.

Chromosome 18q-Syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision

BackgroundVesico-ureteral reflux (VUR) is a dynamic event in which a retrograde flow of urine is present into the upper tracts. VUR may occur isolated or in association with other congenital abnormalities or as part of syndromic entities. We present a patient with a bilateral primary VUR, syndromic disease caused by a large deletion of 18q (18q21.3-qter) and terminal duplication of 1p (1p36.32-p36.33).Case reportThe patient was 8 years old female with a disease including moderate growth retardation, psychomotor retardation, facial dysmorphism, single umbilical artery, umbilical hernia, urachal remnant, bilateral congenital clubfeet and renal-urinary disease. Chromosomal analysis and Array-CGH revealed two heterozygous chromosomal rearrangements: 1p terminal duplication and de novo 18q terminal deletion. She referred to our clinic to evaluation of bilateral hydronephrosis and right renal cortex thinning. Voiding cystourethrography demonstrated bilateral grade IV VUR and dimercaptosuccinic acid renal scintigraphy confirmed right renal cortex thinning and showed a cortical uptake of 75% of the left kidney and 25% of the right kidney. The patient underwent ureterovesical reimplantation after failure of 3 endoscopic submeatal Deflux injections with VUR resolution.ConclusionsThis is the first report involving a patient with 18q-syndrome and contemporary presence of 1p chromosomal terminal duplication. The coexistence of two chromosomal rearrangements complicates the clinical picture and creates a chimeric disorder (marked by characteristics of both chromosomal anomalies). Kidney problems, primarily VUR is reported in 15% of patients affected by 18-q syndrome and no cases is reported in the literature regarding a correlation between VUR and 1p36 chromosomal duplication.

Sternal reconstruction by extracellular matrix: a rare case of phaces syndrome

Abstract Congenital defects of the sternum are rare and due to a failure of midline development and fusion of the sternal bones. Surgical correction of a sternal cleft should be preferred during infancy for functional reasons. Chest wall reconstruction represented a complex problem in the last decades. We report our successful outcome of sternal reconstruction in a rare case of PHACES syndrome, in which the patient was submitted to reconstruction of the sternum and complete closure of the thoracic defect by the employ of an extracellular matrix XCM Biologic tissue matrix. We promote the use of extracellular matrix in surgical reconstruction of chest defects for its maneuverability, plasticity, tolerability and the possibility of growing with the children’s chest getting a good compliance and optimal cosmetic results.

Circumcision with Glubran ® 2 in children: experience of Italian Center

BACKGROUND Circumcision is one of the most common surgical procedures in the world. Despite it is known its wide prevalence for religious and medical reasons in children, it remains a controversial practice in paediatric age. To date, there is no described the gold standard technique to circumcise paediatric patients. We started to use glue for circumcision about 2 years ago. We designed this prospective study with the aim to compare two surgical techniques, which were used in our hospital to perform circumcision in children. The implication for practice was the understanding if there were differences between these approaches related to patients and parents benefits to manage this condition and benefits for surgeon and hospital in term of saving money and time. METHODS This is a randomized, single-blind one-center study. It was conducted at the Department of Paediatric Surgery of Siena. Data were collected between March 2011 and December 2012. Studys population involved all patients who required circumcision. Two randomizes groups: group one which involved patients who underwent circumcision using sutures and group two, which involved patients who underwent circumcision using surgical glue (Glubran(®) 2). Two exclusion criteria were used: the redo-circumcision and the allergy or hyper-sensibility to cyanoacrylate (main component of glue). RESULTS We report 99 patients who underwent circumcision with Glubran(®) 2 in comparison with a group of children circumcised with sutures (vycril rapide). We measured three outcomes (operating time, postoperative pain and assessment of cosmetic), which, even if not all statistically significant, allowed us to draw any conclusions about the use of glue in circumcision. CONCLUSIONS Traditional circumcision is performed using a standard sleeve technique with sutures for the approximation of the skin edges. However, since some years a tissue adhesive as N-butyl-2-cyanoacrylate (NBCA) (Glubran(®) 2) is used in many centers to circumcise children. Based on our results we can conclude that, glue (Glubran(®) 2) application is an excellent alternative to circumcision in paediatric age for a faster surgery, less postoperative pain and good early cosmetic.

Surgical retroperitoneoscopic and transperitoneoscopic access in varicocelectomy: Duplex scan results in pediatric population

OBJECTIVE This is a retrospective study to compare duplex scan results of laparoscopic Palomos technique through retroperitoneal and transperitoneal approach for varicocelectomy in children. We statistically analyzed recurrence, testicular volume growth and complications. PATIENTS AND METHODS Surgical intervention was performed utilizing transperitoneoscopic (group A) or retroperitoneoscopic access (group B). Duplex scan control was performed after 12 months (T1), after 2 years (T2) and the last one at 18 years old in most patients. Statistical analysis was performed using the t-test for parametric data. Differences in proportions were evaluated using χ2 or Fishers exact test. RESULTS We treated 120 children (age range 10-17 years) who presented an asymptomatic IV grade of reflux, Coolsaet 1, associated with a left testicular hypotrophy in 36.6% of the cases (44 patients). No post-operative complications were verified. Duplex scan exam showed an increase of left testicular growth in both groups, with complete hypotrophy disappear in patients in both groups after 24 months. Hydrocele, diagnosed clinically and confirmed with duplex scan, was the most frequent post-operative complication (22/120 cases; 18.3%). CONCLUSIONS This study showed the importance of duplex scan at all steps of this vascular pathology in children, and that there is no significantly difference in results between the two surgical techniques except for hydrocele in transperitoneoscopic access.

Isolated Vaginal Agenesis Associated with Multiple Gastrointestinal Anomalies: A Case Report

More than 50% of infants with esophageal atresia have associated anomalies. We present a case report of a 46XX neonate with long-gap esophageal atresia and tracheoesophageal fistula (EA/TEF), anorectal malformation, bowel duplication and vaginal agenesis. This is an unusual association of abnormalities which had not yet described in literature.