Congenital perineal grove: an unusual Anorectal anomaly in females-report of two cases and literature review.

Congenital perineal grove (CPG) is a rare anorectal anomaly; only 65 cases have been reported in literature. Two cases who were referred for evaluation of a lesion in the perineum are reported here. The patients were diagnosed clinically as CPG in neonatal period and were initially managed conservatively. Surgery was required in one case as the lesion was persistent and symptomatic. A high index of suspicion is required for diagnosis of CPG to avoid parental anxiety and unnecessary diagnostic work-up and surgery. Surgery is required only in cases where the lesion persists or there is infection, pain, and ulceration.

Feminizing Genitoplasty in a young girl with Glanzmann's thrombasthenia-management of haemostasis.

We report peri- and post-operative management of haemostasis in a 11-year old girl with Glanzmann Thrombasthenia (GT) who had feminizing genitoplasty for genital ambiguity due to Congenital Adrenal Hyperplasia (CAH-21 Hydroxylase deficiency). A blend of Glanzmann Thrombasthenia (GT) and DSD 46XX due to CAH is not reported in literature. Surgery particularly genitourinary reconstruction in patients with GT is challenging due to risk of intra and post-operative bleeding. Haemostasis can successfully be achieved with platelet transfusions, antifibrinolytic (Tranexamic acid) and judicious use of recombinant factor VIIa (rFVIIa) even in a resource limited setting.

Peripheral Arterial Injuries in Children: An Audit at a University Hospital in Developing Country.

Objectives: To review the prevalence, pattern, management, outcome, and predictive factors for limb loss of pediatric peripheral arterial injuries (PAIs) at a university hospital in Pakistan. Methods: Medical records of children (age <18 years) managed for PAIs at the university hospital between Jan 2008 and Dec 2018 were reviewed for demographic data; mechanism, type, and severity of injury; management; and outcome. Results: During the study period, of the 1718 children managed for trauma, 75 (67 males and 8 females) had PAI secondary to glass cut (33.3%), gunshot (28.0%), and road traffic accidents (24.0%). Forty-nine patients (65.3%) presented to the emergency room within 6 h of injury. Brachial (28.0%), superficial femoral (20.0%), and radial (20.0%) arteries were the frequently injured vessels. At presentation, the mean revised trauma score and Mangled Extremity Severity Score (MESS) were 3.86±0.55 and 3.4±1.92, respectively. Sixty-eight patients (90.66%) underwent vascular procedures: interposition saphenous vein bypass graft or PTFE graft in 38.7% and primary repair in 29.3%. Limb salvage was achieved in 92.65% of the patients. Late presentation (>6 h) was a risk factor for limb loss (p=0.014). Conclusion: Of the 23 children who presented with trauma, 1 had major PAI. Early presentation (<6 h) and appropriate vascular interventions can salvage limbs in most of the patients.

Penile strangulation injury in children - Reconstructive procedure and outcome.

BACKGROUND: Penile strangulation injury (PSI) is rare and is usually reported in circumcised children. Damage to Corpus Spongiosum (encasing urethra) and Corpus Spongiosum by hidden constricting material (e.g. hair or thread) in penile groove can cause Urethral Fistula (UF) and near total glans amputation. We report varied grades of PSI in children with emphasis on surgical procedure and its outcome. PATIENTS AND METHODS: Fifteen children were treated from August 1991 to December 2018 for PSI inflicted by encircling hair (n = 4) and cotton or polyester thread (n = 11). Twelve patients with Grade 1 and 2 injury had a single stage reconstructive procedure. RESULTS: Age of patients ranged from 6 months to 11 years (mean 5.8 years). All the patients including two who have attained sexual maturity stated satisfactory outcomes, e.g., urinary stream on follow up (range: 1.1 to 13 years; mean 6.5 years). One patient developed urethrocutaneous fistula (UF) and had repair as a daycare procedure. CONCLUSION: One stage surgical repair is appropriate to manage varied damage to urethra and corpora associated with PSI. Immediate and long-term results are reasonable. LEVEL OF EVIDENCE: Level IV.

Distal Splenorenal Shunt (DSRS) in Children with Extrahepatic Portal Hypertension.

Portal hypertension (PH) is infrequent in children as compared to adults. Currently, repetitive endoscopic ablation of varices is standard treatment. However, endoscopic facilities are not readily available in resource-limited settings. We reviewed the indications, operative morbidity, mortality, shunt patency and re-bleeding episodes in nine patients (age range 6-16 years, M:F 6:3) who had DSRS for recurrent GI bleeding not responding to endoscopic treatment and hypersplenism. DSRS is a safe and effective treatment alternative in resource limiting setting for preventing bleeding and improving hypersplenism in children with extrahepatic portal hypertension.

Congenital prepubic sinus-An aborted dorsal urethral duplication or a cloacal remnant?

BACKGROUND: Congenital Prepubic Sinus (CPS) is an uncommon urogenital anomaly characterized by a blind tract between the skin over the pubis to anterior of the urinary bladder, Urethra or umbilicus. We report four such cases to emphasize varied clinical presentation and embryological conundrum. METHODS: Following Ethical Review Committee (ERC) approval, medical records of pediatric patients (<16 years) presenting with CPS (identified through operating room records and Hospital Information Management System (HIMS) between 1994 and 2018 were reviewed for demographics, clinical presentation, investigations including histopathology, management and outcome. RESULTS: Four cases of CPS, 3 females and 1 male, age range 9 months to 13 years were managed over 25-years. Clinical presentation includes a discharging sinus and recurrent episodes of cellulitis and abscess formation in pubic area and labia majora. Urological investigations were mostly normal. Insertion of lacrimal probe or plastic sheath of intravenous cannula through the sinus opening was useful to determine the course of sinus and aid its excision. Histology of excised sinus highlights the possible embryological origin. CONCLUSIONS: CPS is a rare anomaly with varied clinical presentation. It seems CPS is an aborted urethral duplication (Stephen Type 3) or a Cloacal remnant. Complete excision of the tract in the reported cases was curative. TYPE OF STUDY: Case series. LEVEL OF EVIDENCE: IV.

Rubber tourniquet technique: A simple, safe, and cost-effective method of hepatic resection in neonates and infants.

BACKGROUND: Despite the improvements in patient care, understanding of surgical anatomy of liver and surgical techniques, liver resection is a high-risk procedure specifically in infants and neonates; whose blood volume is limited (80 ml/kg). This report shares the experience of hepatic resection with "Rubber tourniquet technique" in patients less than 6-months of age. METHODS: Hepatic resection in a 4-month-old pair of Conjoined twins with shared liver and a 3-day old baby with large Congenital Hepatoblastoma was performed using Penrose rubber drain as a tourniquet around the liver parenchyma to reduce blood loss. RESULTS: Blood loss was minimal (<20CC) and all the three babies survived the procedure without complications. CONCLUSION: Rubber tourniquet technique is simple, safe and cost-effective for liver resections in neonates and infants with hepatic lesions and separation of conjoined twins with shared liver and it can easily be employed in resource constraint settings.

Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries.

Primary hyperoxalurias (PH) are devastating, autosomal recessive diseases causing renal stones. Undifferentiated hyperoxaluria is seen in up to 43% of Pakistani paediatric stone patients. High rates of consanguinity in Pakistan suggest significant local prevalence. There is no detailed information regarding number of cases, clinical features, and genetics in Pakistan-origin (P-o) patients. We reviewed available information on P-o PH patients recorded in the literature as well as from two major PH registries (the Rare Kidney Stone Consortium PH Registry (RKSCPHR) and the OxalEurope PH Registry (OxER); and the Aga Khan University Hospital in Pakistan. After excluding overlaps, we noted 217 P-o PH subjects (42 in OxER and 4 in RKSCPHR). Presentations were protean. Details of mutations were available for 94 patients of 201 who had genetic analyses. Unique mutations were noted. Mutation [c.508G>A (p. Gly170Arg)] (present in up to 25% in the West) was reported in only one case. In one series, only 30% had mutations on exons 1,4,7 of AGXT. Of 42 P-o patients in OxER, 52.4% were PH1, 45.2% PH2, and 2.4% PH3. Of concern is that diagnosis was made after renal transplant rejection (four cases) and on bone-marrow aspiration (in five). Lack of consideration of PH as a diagnosis, late diagnosis, and loss of transplanted kidneys mandates that PH be searched for diligently. Mutation analysis will need to extend to all exons and include PH 1,2,3. There is a need to spread awareness and identify patients through a scoring or screening system that alerts physicians to consider a diagnosis of PH.

Recurrent and acquired tracheoesophageal fistulae (TEF)-Minimally invasive management.

OBJECTIVE: Recurrent and acquired fistulae are a serious complication of congenital esophageal atresia and tracheoesophageal fistula (TEF) repair and foreign body ingestion (FBI) (e.g., button battery). We report our experience with a minimally invasive approach to recurrent and acquired TEF. METHODS: Medical records of patients referred for management of recurrent and acquired TEF between 2003 and 2015 were reviewed retrospectively. Patients underwent endoscopic procedures (de-epithelization of fistulous tract and fibrin tissue adhesive-TisseelR) under general anesthesia. RESULTS: Nine children (7 male, 2 female) with age range 3months to 3years (mean 1.5year) were managed. TEF closed spontaneously in four patients, whereas in 5 patients the TEF closed after combined endoscopic procedure. Three patients required repeat endoscopic procedures. Follow-up ranged between 7months to 10years (mean 4.2years). CONCLUSIONS: Active observation and repeat combined endoscopic procedures are safe alternatives to open surgical repair of acquired and recurrent TEF. LEVEL OF EVIDENCE: Level IV study.

Protean and intangible manifestation of renal stones in children.

In the last decade, renal stones are being diagnosed more frequently in children across the globe. Children with renal stone often present with non-specific and subtle symptoms. Diagnosis of urolithiasis in children therefore requires a high index of suspicion especially for those living in endemic regions and with a positive family history. Additionally, management requires judicious use of radiological imaging by treating physicians.

Choledochal cyst--a different disease in newborns and infants.

We report experience of managing Choledochal Cyst (CC) in different paediatric ages. Eleven neonates and infants (aged 0-8 months) and 24 paediatric cases (aged 2.5 - 18 years) were managed over 24 years (1988 to 2012). Neonates and infants presented with jaundice, acholic stools and abdominal mass whereas most of the paediatric cases presented with intermittent non-specific abdominal pain. Morphology of CC was mostly cystic in neonates whereas it was fusiform in majority (62%) of paediatric cases. Biliary amylase was high and correlated with the presence of abnormal pancreaticobiliary junction (PBJ) in 20 /24 paediatric patients. Obstruction at the lower end of bile duct, liver fibrosis and cirrhosis were common in neonates. In conclusion, CC in newborns and infants is different and mimic correctable Biliary Atresia (BA). Early excision of CC and biliary reconstruction is promising in neonates, infants and children and it can be performed with minimal morbidity.

Long-term follow-up of a child with primary lymph node gastrinoma and Zollinger-Ellison syndrome.

A 10-year-old child with Zollinger-Ellison syndrome and primary lymph node gastrinoma is reported to emphasize the difficulties encountered in management and the value of long-term follow-up. The gastrinoma was present in a lymph node close to the greater curvature of the stomach. Primary lymph node gastrinomas are relatively rare in children and, to the best of our knowledge, have not previously been reported at this location.

Pediatric tracheostomy: complications and role of home care in a developing country.

INTRODUCTION: Tracheotomy in its earlier days was most commonly performed for acute airway infection in children. Its indications are now changing; it is now most commonly performed for congenital malformations (McMurray and Prescott in Practical pediatric otolaryngology. W.B. Saunders Company, Philadelphia, pp 575-592, 1996). This shift in indication has increased the rate of survival of such patients, and therefore the number of children going home after tracheostomy has also increased. OBJECTIVE: This study was conducted (1) to observe the pattern of indication and complications for tracheostomy, in our part of the world, (2) the rate at which tracheostomy can help wean patients off the ventilator, and (3) the feasibility of sending these children home with tracheostomy. MATERIALS AND METHODS: A retrospective study was done on 127 patients. The indications, final outcome and the complications encountered in and outside the hospital were studied through review of charts. RESULTS: Based on the main indications, patients were grouped into: prolonged ventilation group (PV) 61%, followed by mechanical obstruction group (MO) 22%, and the last being adjunct to surgery group (AS) 17%. The in-hospital complication rate was 30% and that at home was 18.11%. The most common complications included upper respiratory tract infections, and blockage or displacement of tubes. The late complication rate was 4%. Hundred (78.8%) patients on the ventilator could be successfully weaned off, with a p value of 0.001; 81 were sent home with the tracheostomy tube (TT). Forty of these were successfully decannulated and the overall decannulation rate was 48.8%. CONCLUSION: A large number of tracheostomies have been performed in the PV group to reduce the intensive care unit (ICU) stay and to prevent nosocomial infections. The need arises from the high cost of prolonged stay in an ICU setup, which is a cause of major economic burden, and lack of financial assistance for these patients worsens the scenario. Home care of the tracheostomy tubes remains a good option for patients requiring long periods of time to overcome their primary pathology.

Solitary infantile myofibromatosis of the skull.

This is the report of a 6 months old boy presenting with a firm, solitary mass on the temporal region, associated with lysis of local bone. Investigations lead to a diagnosis of infantile myofibromatosis (IM). Wide local excision was performed. At one year follow-up, no recurrence was noted.

Urolithiasis and psoas abscess in a 2-year-old boy with type 1 glycogen storage disease.

We report on a pyogenic psoas abscess secondary to an impacted calcium oxalate ureteric stone in a 2-year-old boy with glycogen storage disease type 1 (GSD-1). The patient had a drainage of the abscess through a flank incision followed by percutaneous nephrostomy and open ureterolithotomy. Metabolic acidosis, hyperuricemia, hypocitraturia, and hypercalciuria appear to be significant in the pathogenesis of urolithiasis in patients with GSD-1. Regular ultrasonography of the abdomen along with optimal metabolic control may delay or prevent urolithiasis and its complications in GSD-1 patients.

Congenital vaginal obstructions: varied presentation and outcome.

Congenital obstructing lesions of vagina, hydrometrocolpos, and hematocolpos, present at a variable time during early childhood and adolescence to different medical and surgical specialties. Twenty-six cases presenting over an 18-years period (1987-2005) were divided into three groups; Group A: neonates (6), Group B: adolescents (18), and Group C: adults (2). Common presentations in neonates (Group A) were abdominal mass (5), neonatal sepsis (3), and respiratory distress (2); whereas abdominal pain (18), voiding dysfunctions (13), and backache (7) were prevalent in adolescents (Group B). Adults (Group C) presented with inability to consummate and infertility (2). Four patients received erroneous treatment; exploratory laparotomy (1) and appendectomy (3). Urinary symptoms and associated urinary abnormalities were present in more than 50% of cases, especially those with complex anomalies. Management included excision of imperforate hymen (16) and transverse vaginal septum (8) through perineal (20) and abdominoperineal approach (4). Patients with urogenital sinus (1) and cloacal malformation (1) had staged reconstruction at 2.5 years of age following preliminary vesicostomy and colostomy at birth. On follow up (range 1-15 years; mean 7) more than 60% patients have menstrual irregularity (11), endometriosis (5), and infertility (4). In conclusion, rarity and variable presentation of congenital vaginal obstructions can lead to delayed diagnosis and erroneous management. A high index of suspicion and cross-sectional imaging help in early diagnosis and associated renal anomalies. A comprehensive management is imperative to preserve the reproductive potentials, as significant proportion of patients may experience sexual difficulties, menstrual irregularity, and infertility.

Pulmonary agenesis--vascular airway compression and gastroesophageal reflux influence outcome.

Pulmonary agenesis (PA) is a rare malformation that can be isolated or associated with other anomalies. We report 3 cases of left-sided PA having ipsilateral renal agenesis, facial, and radial ray anomalies. Patients presented in infancy with nonspecific respiratory symptoms and were diagnosed to have PA on chest radiograph and computed tomographic scan. Bronchial compression, by dilated pulmonary artery and associated severe gastroesophageal reflux, aggravated respiratory symptoms and required surgical intervention. The relevant literature is briefly reviewed.

Maternal and fetal complications of antiphospholipid syndrome: a case report with long-term follow-up.

We report a case of a 26- year old woman having antiphospholipid syndrome in pregnancy with long-term follow up. She presented with recurrent miscarriages, venous thrombosis, avascular necrosis of femoral head, mid-cerebral artery infarction and skin ulcers. Antiphospholipid syndrome is a recognized disorder of pregnancy. Diagnosis requires a high index of suspicion when evaluating women with recurrent pregnancy losses and vascular thrombosis. A low dose aspirin combined with heparin can reduce morbidity and improves the pregnancy outcome.

Malignant vascular tumors of liver in neonates.

Malignant vascular tumors of the liver are rare in children, especially in neonates. We report two cases. One was initially diagnosed as infantile hemangioendothelioma. Rapid growth and appearance of pulmonary metastasis while on aggressive medical treatment suggested malignant transformation. The other neonate presented with intractable ascites and liver biopsy showed histological features of angiosarcoma. Ascites has rarely been reported as a presenting feature of angiosarcoma in literature. Both patients died. To date, surgery, chemotherapy, and radiotherapy have not improved the outcome of malignant vascular tumors of liver.