Klinefelter syndrome presenting with perinatal ascites associated with unilateral renal agenesis and a prostatic utricle cyst.

We present a rare case of Klinefelter syndrome who presented with perinatal ascites, unilateral renal agenesis and a prostatic utricle cyst. The patient was born at term via emergency Caesarean section with gross abdominal distension. Antenatally, amniocentesis revealed a fetal karyotype of Klinefelter syndrome (47, XXY), and the 34-week ultrasound scan showed a cyst measuring 17×21×27 mm located inferior-posterior to the bladder. There was no ascites noted then, but a small left pelvic kidney was present. Ultrasound kidney, ureter and bladder as well as CT scan of the thorax, abdomen and pelvis done at birth showed a solitary right kidney with large-volume ascites and no evidence of a cyst adjacent to the bladder. These findings suggest urinary ascites from an involuting left renal system or a ruptured prostatic utricle cyst. We report the first case of Klinefelter syndrome associated with a prostatic utricle cyst and unilateral renal agenesis, presenting with neonatal ascites.

Outcome of boys with posterior urethral valves from a single tertiary hospital in Singapore.

INTRODUCTION: Posterior urethral valve (PUV) is the most common congenital cause of bladder outflow obstruction in male infants. Despite timely treatment, renal damage can still occur in the long-term leading to chronic kidney disease (CKD). METHODS: A retrospective review of all PUV patients in a single tertiary institution between April 1998 and July 2019 was conducted to analyze their presentations, management and outcomes. Long-term renal function, radiologic scans and somatic growth were evaluated. RESULTS: A total of 16 patients were included in this study. Two patients who defaulted all follow-ups were excluded. Seven patients (43.7%) presented in the antenatal period; four patients (25%) presented in the neonatal period and five patients (31.3%) presented in the post-neonatal period. Primary transurethral fulguration of valves was done in 13 patients, while three had vesicostomies as the primary procedure. Three patients had associated anterior urethral valves (AUV), which were treated endoscopically. Nine boys had additional procedures for diversion and undiversion, VUR, non-functioning kidney and clean intermittent catheterization. Ten patients had urodynamic studies performed, of which eight patients received anticholinergic therapy. Eleven patients had DMSA scans, of which three patients had a normal study and eight patients showed unilateral reduced function. Four patients were diagnosed with CKD on long-term follow-up duration over 5 years. All patients were shown to have good somatic growth. CONCLUSION: Patients with PUV can suffer from complications despite primary treatment. In our small cohort, a quarter of our patients developed CKD on follow-up. Thus, patients need long-term follow-up to optimize bladder and renal function.

Complete evagination of a patent vitellointestinal duct and adjacent ileal limbs from an omphalocele sac: an extreme presentation.

Vitellointestinal duct (VID) anomalies have been described extensively in the literature. However, an everted VID with prolapse of ileum arising from an omphalocele is rare, and its appearance at birth can be alarming and can present a diagnostic challenge. We describe a baby born to a teenage diabetic mother who was noted to have a strange exophytic mass arising from the abdominal wall. Antenatal scans had revealed multiple other malformations but not an omphalocele. He was operated on early, and the diagnosis of a patent VID with prolapse of the ileum arising from an omphalocele was only confirmed intraoperatively. The duct was resected, the ileum closed primarily and primary closure of the abdominal wall was performed without tension. He recovered well postoperatively. A brief review of similar cases is included.

A novel noninvasive appendicitis score with a urine biomarker.

PURPOSE: The aim of our study was to develop an appendicitis score incorporating a urine biomarker, Leucine rich alpha-2-glycoprotein (LRG), for evaluation of children with abdominal pain. METHODS: From January to August 2017 we prospectively enrolled children aged 4-16 years old admitted for suspected appendicitis. Urine samples for LRG analysis were obtained preoperatively and quantified by enzyme-linked immunosorbent assay (ELISA) after correction for patient hydration status. The diagnosis of appendicitis was based on operative findings and histology. Logistic regression was used to identify prospective predictors. RESULTS: A total of 148 patients were recruited, of which 42(28.4%) were confirmed appendicitis. Our Appendicitis Urinary Biomarker (AuB) model incorporated urine LRG with 3 clinical predictors: 'constant pain', 'right iliac fossa tenderness', 'pain on percussion'. Area under the ROC curve for AuB was 0.82 versus 0.78 for the Pediatric Appendicitis Score (PAS) on the same cohort of patients. A model-calculated risk score of <0.15 is interpreted as low risk of appendicitis. Sensitivity for the AuB at this cutoff was 97.6%, specificity 37.7%, negative predictive value 97.6%, positive predictive value 38.3%, and negative likelihood ratio 0.06. CONCLUSION: The noninvasive AuB score appears promising as a diagnostic tool for excluding appendicitis in children without the need for blood sampling. TYPE OF STUDY: Study of diagnostic test. LEVEL OF EVIDENCE: Level III.

Neuronal defects an etiological factor in congenital pelviureteric junction obstruction?

INTRODUCTION: Congenital pelviureteric junction obstruction (PUJO) is one of the most frequent causes of neonatal hydronephrosis. Obstruction at the PUJ has potential severe adverse outcomes, such as renal damage. While pyeloplasty has been established as the definitive treatment, the exact pathophysiology of congenital PUJO remains unknown. Recent research has proposed neuronal innervation defects as an etiological factor in congenital PUJO. We aim to study the expression of various neuronal markers in PUJO specimens compared with controls, and evaluate whether severity of renal disease or dysfunction pre-operatively is related to expression of neuronal markers in resected PUJO specimens. MATERIALS AND METHODS: All consecutive patients who underwent dismembered pyeloplasty at KK Women's and Children's Hospital, Singapore, for intrinsic PUJO from 2008 to 2012 were included. Patients with other co-occurring renal pathologies were excluded. Controls were obtained from nephrectomy patients with Wilm's tumor or other benign renal conditions during the same period. Specimens were stained immunohistochemically with neuronal markers protein gene product 9.5 (PGP9.5), synaptophysin, and S-100, and with CD-117, a marker for interstitial cells of Cajal (Table). Levels of expression of the markers were assessed semiquantitatively (decreased, increased or no change) in comparison with controls by two independent observers. Pre-operative data of patients' renal anatomical (ultrasonography measurements of renal pelvis size) and functional parameters (differential renal function measured using MAG-3 renal scans) were obtained. DISCUSSION: Thirty-eight PUJO specimens (38 renal units) and 20 controls were studied. Mean patient age at pyeloplasty was 25.3 months (2.9-167.6 months). Median pre-operative pelvic size was 25.0 mm (17.0-50.0 mm). Both PUJO specimens and controls showed great heterogeneity in distribution of innervation. All four immunohistochemical markers were not predictive of significant pre-operative renal pelvis dilation or pre-operative diminished renal function of the operated kidney. CONCLUSIONS: There exists marked variability in expression of neuronal markers synaptophysin, PGP9.5, and S-100, and CD-117 in PUJO specimens compared with controls. Our results show no clinical significance of the expression of neuronal markers in predicting degree of pre-operative renal pelvis dilation or differential renal function. The heterogeneity of expression of neuronal markers in PUJO specimens and controls in our population is at variance with prior studies. The etiology of PUJO is likely to be complex and multifactorial.

Understanding Experiences of Youth Growing Up with Anorectal Malformation or Hirschsprung's Disease to Inform Transition Care: A Qualitative In-Depth Interview Study.

INTRODUCTION: The impact of anorectal malformation (ARM) or Hirschsprung's disease (HD) in children continues into adulthood despite early surgical correction. We aimed to explore the physical, social, and emotional impacts of these conditions on youth to inform best transition care strategies. MATERIALS AND METHODS: Eligible participants were those aged between 14 and 21 years who had undergone surgery for ARM/HD in our institution. We conducted one-on-one in-depth interviews to saturation using a question guide developed from literature review and clinician expertise. Deidentified transcripts were coded by four coders (two pediatric surgeons, one psychiatrist, and one qualitative expert) for major themes using a constant comparison approach. A theoretical model for understanding the transition experience was developed using grounded theory. RESULTS: Out of 120 patients identified as eligible, 11 youth (6 males) participated in the study. Interviews lasted from 50 to 60 minutes. Four major themes emerged: (1) social support (subthemes: family as core, friends as outer support), (2) cognitive and emotional change (subthemes: realization/recognition of illness, matching emotional response), (3) impact of physical symptoms (subthemes: adverse effects of abnormal bowel habits, gaining bowel continence control leading to overall feeling of control, need to keep disease private), and (4) healthcare providers (viewed as important information sources). Themes did not differ by gender. CONCLUSION: Our model suggests that participants' understanding of bowel disease evolved over time with a "lightbulb" moment in preteens or early teens accompanied by increasing disease ownership and self-management. Clinicians should independently engage with patients in late childhood to address evolving emotional and information needs and encourage increasing autonomy. Future studies should explore communication approaches to meet transition needs of patients.

Implications of incidental finding of testicular microlithiasis in paediatric patients.

OBJECTIVE: To improve understanding of the implications of testicular microlithiasis (TM) in paediatric patients diagnosed incidentally on scrotal ultrasonography (US). PATIENTS AND METHODS: 31 boys aged 4-14 years diagnosed with TM based on US between February 2000 and September 2007 were retrospectively reviewed. Demographic data, indications for US, associated inguino-scrotal pathologies and follow-up data were collated. RESULTS: A total of 59 testes were evaluated. Fifty-four had TM at US. The most common indication for US was scrotal swelling (n = 17). Twenty patients (65%) had at least one associated inguino-scrotal pathology related to patent processus vaginalis, with cryptorchidism being the most frequently observed (39%). On follow up (mean 39.6 months), 6 patients documented decrease or resolution of TM, while 2 showed increase in TM density. No testicular malignancy was observed during follow up. CONCLUSIONS: TM is commonly diagnosed incidentally on US in paediatric patients. A literature review revealed few case reports on its association with testicular malignancy and a prevalence of 4.2% among asymptomatic boys. The spontaneous resolution of TM supports degeneration of seminiferous tubules as the possible cause and further questions its malignant implication. An appropriate surveillance scheme would require involvement of a well-informed patient and parent with good compliance on testicular self-examination.

Perforation: a rare complication of choledochal cysts in children.

PURPOSE: Spontaneous perforation is a rare complication of choledochal cyst (CDC) which is difficult to diagnose due to its nonspecific clinical presentation. The surgical treatment can be either single-staged cyst excision or two-staged procedure with an initial drainage followed by delayed cyst excision. Both biliary duct obstruction and irritation due to refluxed pancreatic juice have been proposed as possible aetiology. In this report, we describe six cases of CDC perforation in hope to have a better understanding on the clinical features and cause of this complication. METHODS: Medical records of six patients whose diagnoses of perforated CDC were confirmed with intra-operative findings were retrospectively reviewed. Clinical data, investigation results and post-operative outcomes were analysed. RESULTS: Vomiting and abdominal pain were the most common complaints. Few patients present with clinical jaundice. Overt sign of peritonitis was absent. Both single-staged and two-staged approach offered satisfactory outcome. CONCLUSION: Hyperbilirubinaemia and remote free intra-peritoneal fluid allude the diagnosis of perforated CDC. When presenting with cholangitis, it warrants timely surgical intervention to prevent perforation. Single-staged or two-staged surgical approach would depend on stability of patient and surgical expertise available. Reversible dilatation of intra-hepatic duct suggests that increased intra-ductal pressure is a contributing factor to the perforation.

Acute suppurative thyroiditis in children secondary to pyriform sinus fistula.

Acute suppurative thyroiditis (AST), a potential complication of pyriform sinus fistula (PSF), is a rare clinical condition as the thyroid gland is remarkably resistant to infections. Lack of awareness of the entity contributes to the rarity and frustrating recurrences. We performed a retrospective review of all cases of AST due to PSF treated at our institution over a 10-year period. The clinical data, investigations, operative findings and procedures, microbial culture reports and follow-up were recorded and analyzed. Between January 1997 and September 2006, 12 cases (8 males and 4 females) of AST due to PSF were treated. Nine patients (75%) underwent successful complete excision, seven of whom had initial incision and drainage procedures. In three patients (25%) with recurrence, one underwent complete excision at a later procedure, one patient had multiple recurrences with six incision and drainage procedures and two failed attempts of excision of PSF before final successful complete excision. The third patient is awaiting re-excision of the PSF tract. All patients, except the one awaiting re-excision, are well with no further recurrences during the follow-up period that ranged from 18 to 96 months (median, 46.5 months). AST due to PSF is a challenging entity in terms of diagnosis and management as recurrences are common despite meticulous dissection. High index of suspicion and radiological investigations such as barium studies and computed tomography scan aid in the delineation and excision of the fistulous tract.

Perforated appendicitis in children: benefits of early laparoscopic surgery.

INTRODUCTION: The aim of this study was to analyse the feasibility, safety and benefits of laparoscopic appendicectomy (LA) in comparison with open appendicectomy (OA) for perforated appendicitis (PA) in children. MATERIALS AND METHODS: A retrospective analysis of all consecutive cases of PA who underwent OA or LA between July 2001 and April 2004 was done. The patient demographics, duration of symptoms and operative findings were noted and the feasibility, safety and benefits of LA were analysed with respect to postoperative recovery and complications. RESULTS: One hundred and thirty-seven consecutive patients with PA underwent either OA (n = 46) or LA (n = 91). Both groups were comparable with respect to patient demographics, duration of symptoms and operative findings. The mean operative time was 106.5 min (95% CI, 100.2 - 112.8) in the LA group and 92.8 min (95% CI, 82.9-102.7) in the OA group (P = 0.02). The return to afebrile status after surgery was significantly faster in the LA group [mean, 45.4 hours (95% CI, 36.8-54)] than the OA group [mean, 77 hours (95% CI 56.7-97.3)] (P = 0.007). The mean duration for postoperative opioid analgesia was 2.5 days (95% CI, 2.2-2.7) for LA and 3.2 days (95% CI, 2.9- 3.6) for OA (P = 0.001). The resumption of oral feeds after surgery was at 3.1 days (95% CI, 2.8-3.3) for LA and 3.7 days (3.4-4.1) for OA (P = 0.005). The length of the hospital stay was shorter in the LA group [mean, 6.5 days (95% CI, 6.1-6.8)] as compared to that of the OA group [mean, 8.2 days (95% CI, 7.1-9.3)] (P = 0.006). Postoperative complications included wound infection, adhesive intestinal obstruction and pelvic abscess formation. The incidence of these complications was 5.6% in the LA group and 19.6% in the OA group (P = 0.01). Nine patients (9.8%) needed conversion to open surgery in the LA group. None of the LA patients had wound infection. CONCLUSION: LA is feasible, safe and beneficial in children with PA.

Meckel's diverticular complications in children: is laparoscopy the order of the day?

Meckel's diverticulum (MD), a seemingly innocuous anomaly of the gastrointestinal tract, presents distinctive challenges to a clinician, as it is prone to varied complications that are frequently elusive to diagnosis with conventional diagnostic modalities. This case series illustrates the diverse presentations and advantages of laparoscopic-assisted management of Meckel's diverticular complications in children. Between October 2002 and April 2006, 36 patients (27 males and 9 females) aged 1.5 to 16 years (median 10 years) underwent laparoscopic-assisted trans-umbilical Meckel's diverticulectomy (LATUM). Sixteen (44.4%) patients presented with lower gastrointestinal bleeding (14 with painless bleed and 2 with perforated peptic ulcer in the ileum adjacent to the MD), six (16.7%) patients presented with intestinal obstruction (four due to a mesodiverticular band and one each due to intussusception and floppy giant cystic dilatation of MD causing intestinal compression) and four (11.1%) patients presented with features masquerading as appendicitis (one with Meckel's diverticulitis and perforation, one with perforated peptic ulcer adjacent to MD and two with a torted and gangrenous MD). In ten (27.8%) patients, incidental MD with a narrow base was noted at laparoscopic exploration for suspected appendicitis. All patients underwent successful LATUM along with appendicectomy in 15 (41.7%) patients. The operative duration ranged from 72 to 266 min (mean 125.9+/-48.4). There were no intra-operative complications and none required conversion to open surgery. The hospital stay was 3 to 9 days (mean 5.3+/-1.2). There were three (8.3%) cases of postoperative adhesive intestinal obstruction; two underwent successful laparoscopic adhesiolysis and one necessitated conversion to suprapubic laparotomy to release the pelvic adhesions. There were no other complications during the follow-up (median 16 months). LATUM is a safe, effective and an esthetic procedure offering timely diagnosis and cure for diverse Meckel's diverticular complications. The technique also allows palpation of the MD and avoids usage of expensive staplers.

Laparoscopic appendicectomy in children: A trainee's perspective.

INTRODUCTION: The emergence of operative laparoscopy has brought a great demand for training surgical residents, but there are no clear guidelines regarding choice of procedure for training, proficiency assessment and accreditation. We aim to examine from a trainee's point of view, the safety and efficacy of laparoscopic appendicectomy (LA) as a laparoscopic training procedure. MATERIALS AND METHODS: A retrospective analysis of all the consecutive cases of LA done by a trainee in paediatric laparoscopic surgery from September 2003 to February 2005 was done. RESULTS: A total of 70 consecutive patients (37 males and 33 females) aged 3 to 15 years (mean, 10.5 +/- 2.5) with suspected appendicitis underwent LA. Twelve (17.1%) patients had acute appendicitis, 25 (35.7%) had acute suppurative appendicitis adherent to the caecum with localised and/or pelvic pus pocketing, 29 (41.4%) had perforated appendicitis with generalised peritonitis and 4 (5.7%) had normal appendix [mesenteric adenitis (1), omental infarct (1), torted Meckel's diverticulum (1) and primary peritonitis (1)]. There were no operative complications and none required conversion to open surgery. The operative duration ranged from 25 to 110 minutes (mean, 55.6 +/- 23.4). There were two complications; one had adhesive intestinal obstruction and underwent successful laparoscopic adhesiolysis and one had umbilical wound infection. CONCLUSIONS: LA is a safe and effective laparoscopic training procedure, in addition to being effective for all stages of appendicitis, as well as concurrent lesions encountered in children with suspected appendicitis.

Laparoscopic resection of an axially torted Meckel's diverticulum in a 13-year-old.

We report an unusual case of acute abdomen due to axial torsion and infarction of a Meckel's diverticulum in a 13-year-old boy and illustrate the versatility of laparoscopy in the diagnosis and management of acute surgical abdomen in children. We believe that this is only the third case reported in a child of torsion of a Meckel's diverticulum and the first to be managed by laparoscopic resection.

Transumbilical approach to intraoperative enteroscopy in a child with intussusception and Peutz-Jeghers syndrome.

Intraoperative enteroscopy has been known to reduce reoperation rates in complicated Peutz- Jeghers polyposis. It is usually performed during a laparotomy. This case report illustrates the feasibility of performing intraoperative transenterotomy enteroscopy together with extracorporeal ileal resection using the transumbilical approach after successfully reducing an intussusception laparoscopically in a 10-year-old child with Peutz-Jeghers syndrome. This technique obviates the need for a laparotomy.

A report of 6 children with small bowel intussusception that required surgical intervention.

BACKGROUND/PURPOSE: We aim to justify the need for surgical intervention in our patients with childhood small bowel intussusceptions (SBIs) and review the current concepts in childhood SBI. MATERIALS AND METHODS: We retrospectively reviewed the clinical charts of all patients with surgically confirmed SBI between July 1999 and October 2002. Demographic data, clinical presentation and investigations, operative and pathologic findings, and outcome were analyzed. RESULTS: Of 173 patients with intussusception, 6 (3.5%) were diagnosed with SBI. Median age was 11 months. Ultrasonography revealed intussusceptions in all patients, but only 1 was diagnosed with SBI. Air enema reductions were attempted in 4 of 6 patients with all ending up in failure and surgery. Surgery revealed ileoileal intussusceptions in 4 patients and jejunojejunal intussusceptions in 2 patients. Two patients had long intussusceptions measuring between 30 and 50 cm in length. Five patients had pathologic lead points, and bowel complications occurred in 2 patients. All underwent bowel resection and primary anastomosis. CONCLUSION: Despite reports on spontaneous reduction of SBI, surgery was unavoidable in all our patients with SBI because of the presence of pathologic lead points and/or bowel complications. Air enema reduction was ineffective in SBI. Due caution should be exercised when selecting patients for expectant management.

Bile duct perforation in children: is it truly spontaneous?

INTRODUCTION: Bile duct perforation (BDP) with resultant biliary ascites in children is a rare clinical condition. The aetiopathogenesis is still an enigma, with increasing evidence suggesting anomalous union of pancreaticobiliary ductal (AUPBD) system as the prime causative factor. CLINICAL PICTURE: We report 2 cases of spontaneous perforation of the bile duct confirmed on histopathological examination as choledochal cyst, in a 6-month-old female child and a 4-year-old boy who presented with subtle clinical symptoms. TREATMENT AND OUTCOME: Both patients were successfully managed by excision of the gall bladder and common bile duct and Roux-en- Y hepaticojejunostomy. This procedure was performed following initial cholecystostomy drainage in the second case. CONCLUSIONS: From the available literature and experience with our patients, BDP is not merely spontaneous but may be related to AUPBD and choledochal cyst.

Laparoscopic-assisted resection of Meckel's diverticulum in children.

BACKGROUND AND OBJECTIVES: Meckel's diverticulum (MD) presents unique challenges for a pediatric surgeon, as it is prone to varied complications. This case series highlights the diverse presentations and laparoscopic management of MD in children. METHODS: We performed a retrospective analysis of consecutive cases of laparoscopic-assisted transumbilical Meckel's diverticulectomy (LATUM) performed by the same surgeon for incidental as well as diverse Meckel's diverticular complications over 20 months. RESULTS: Eight patients (5 males and 3 females) aged 3 years to 13 years (median, 12) underwent LATUM. Three patients had painless per-rectal bleeding and 1 presented with intestinal obstruction due to a mesodiverticular band and intestinal ischemia. Two patients had features masquerading as appendicitis; one had perforated MD with secondary inflammation of the appendix, and the other had a torsed, gangrenous MD. In 2 patients, incidental MD with a narrow base was noted at appendicectomy for appendicitis. All patients underwent successful LATUM along with appendicectomy in 4 patients. The operative duration was 72 minutes to 165 minutes (mean, 112.1+/-30.6). There were no operative complications, and no conversion to open surgery was required. The hospital stay was 4 days to 7 days (mean, 4.7+/-1.2). The patient with mesodiverticular band intestinal obstruction presented with adhesive intestinal obstruction 2 weeks after the surgery. Laparoscopic-assisted minilaparotomy was done to release the pelvic adhesions. There were no other complications during the follow-up (median, 11 months). CONCLUSIONS: LATUM is a simple, safe, and effective procedure with a better cosmetic outcome that can be performed for diverse manifestations of MD. The technique also allows palpation of the MD and avoids use of expensive staplers.

Colour Doppler ultrasonography replacing surgical exploration for acute scrotum: myth or reality?

BACKGROUND: Traditionally, every patient with an acute scrotum needed surgical exploration for definitive exclusion of testicular torsion. OBJECTIVE: In this study, we aimed to evaluate the improved accuracy in clinical diagnosis with colour Doppler Ultrasonography (US) added to normal clinical assessment. MATERIALS AND METHODS: We retrospectively reviewed 626 patients, who presented with acute scrotal pain between January 1998 and June 2004. Following history and physical examination, the patients either proceeded directly to surgery or underwent US examination. If clinical suspicion of testicular torsion persisted after US, the patients would still undergo scrotal exploration. RESULTS: Of the 294 patients who had routine scrotal exploration without preliminary US, only 23 (7.8%) were found to have testicular torsion. Amongst the 332 cases that had initial US, 9 (2.7%) patients revealed testicular torsion that was confirmed at subsequent surgery. The remaining 323 patients had initial negative US, but 29 were explored eventually on clinical indications. Of these, 4 (1.2% of 323) cases were diagnosed intra-operatively as testicular torsion. None of the remaining 294 patients who were managed conservatively proved to have testicular torsion after a minimum follow-up of 2 weeks. For testicular torsion, US yielded a sensitivity of 69.2% (95% confidence interval =38.9-89.5), specificity of 100% (95% CI=98.5-100), positive predictive value of 100% and negative predictive value of 97.5%. CONCLUSIONS: US has proven to decrease the number of emergency scrotal explorations, length of hospital stay and hence reduce the cost of management of acute scrotum.