Basidiobolomycosis caused by a rare species - Basidiobolus meristosporus.

A five-year girl was referred to our centre with swelling over the right lower back. The child was evaluated to rule out chronic cutaneous tuberculosis, lymphoma and soft tissue tumor. Biopsy of the lesion on culture yielded Basidiobolus species. Whole genome sequencing of the isolate identified it as Basidiobolus meristosporus. Sequencing of fungi pathogenic to humans which cannot be differentiated by conventional methods of speciation becomes essential to assign pathogenicity, understand epidemiology and resolve the nuances in the ever-evolving taxonomical classification.

Impacted esophageal foreign bodies in children.

PURPOSE: Foreign body (FB) ingestion in children has varied presentation. When unwitnessed, it poses therapeutic and diagnostic challenges especially in the presence of pre-existing anatomical pathology. We aim to analyze the clinical course, management, and outcome of children with impacted esophageal FBs. METHODS: Retrospective chart review (Jan 2000-Feb 2018) recruiting children with impacted esophageal FBs. FBs in cricopharynx and those that moved to stomach were excluded. Investigations/management were based on underlying anatomical pathology, duration of impaction, and difficult FBs. Clinical details, management, and outcomes were collated. RESULTS: Of 86 children, N1 = 31 had identifiable predisposing anatomic pathology and N2 = 55 had impactions in normal esophagus or difficult FBs. N1 group presented early (42 months), had recurrent impactions (1-6), and needed multiple dilatations (0-8) and longer follow-up (avg 35 months). Food matter was commonest impaction. Many had persistent symptoms. N2 group had commonly coin impactions and strictures developed in long standing or corrosive FBs. Most were asymptomatic. CONCLUSION: Abnormal esophageal anatomy predisposes to impaction with organic food bolus. Age of presentation is earlier with recurrent impactions requiring multiple dilatations/surgery and longer follow-up. Metallic FBs commonly impact in normal esophagus and are often innocuous. Atypical/multiple FBs may mirror an underlying psychiatric illness.

46 XY disorder of sex development (DSD) due to 5 alpha (SRD5A2) deficiency - Experience from a multidisciplinary Pediatric Gender Clinic.

BACKGROUND: SRD5A2 deficiency leads to incomplete masculinization of individuals with a 46 XY karyotype. A definitive diagnosis in early infancy facilitates decisions concerning choice of sex of rearing and management. AIM: To review the clinical presentation, diagnosis, treatment and outcome of children with 46 XY DSD due to SRD5A2 deficiency at a Paediatric Gender Clinic. STUDY DESIGN AND METHODS: Retrospective review of cases of SRD5A2 deficiency (2000-15) managed with a standard protocol at a multidisciplinary clinic. Demographic data, clinical presentation, physical findings, investigations (hormonal profile, imaging, genitoscopy), psychological evaluation (child, family), medical and surgical management, outcome and follow up were collated and analyzed. RESULTS: There were 12 cases aged 3 days-14 years at presentation, 3 had parental consanguinity. Eight were reared as males and 4 as females. Specialist referral was sought for hypospadias (5), atypical genitalia (5) or incongruent pubertal masculinization (2). All had chordee, symmetrical inguinoscrotal gonads, rugose labioscrotum and proximal hypospadias (perineoscrotal -9, perineal -3). Both pubertal cases had significant masculinization and no gynecomastia. The median testosterone/dihydrotestosterone ratio was 22.1(IQR-8.6-55.7). Despite a classical phenotype, four (2 prepubertal, 2 pubertal) had a ratio <10. Genitoscopy showed urogenital sinus remnant (4) and hypoplastic verumontanum (5). Sex reassignment was done in 4. Surgical management was staged and completed by 4 years in those with infantile presentation. Besides correction of chordee and urethroplasty in 11, other procedures included orchidopexy (5), excision of a urogenital sinus remnant (4) and correction of penoscrotal transposition (4). The urethroplasty was single staged in 3. All operated cases were followed up (mean age at last follow up - 10.63 years, mean follow up period - 7.25 years). The overall cosmetic result was satisfactory, but the phallic structure remained relatively small across prepubertal period. Uroflowmetry curves were normal in 9. All showed penile tumescence/erection and two peripubertal cases had typical secondary sexual characters. All cases, including those with sex reassignment, have a well-adjusted male psyche. DISCUSSION AND CONCLUSION: The diagnosis, management and longitudinal follow up of cases of SRD5A2 deficiency at a multidisciplinary gender clinic is presented. Diagnostic dilemmas with low T/DHT ratios remained in a third of cases. Most were diagnosed in infancy and assigned a male sex of rearing, all underwent staged masculinizing genitoplasty. Those with sex reassignment also fared well with comprehensive management after family counseling.

Risk factors for renal scarring and clinical morbidity in children with high-grade and low-grade primary vesicoureteral reflux.

INTRODUCTION: Primary vesicoureteral reflux (VUR) is associated with urinary tract infections (UTIs) and renal damage. However, the importance of early diagnosis of VUR has been questioned. Moreover, most studies have few patients with high-grade VUR. Hence, we retrospectively analyzed a large cohort of patients with primary high-grade and low-grade VUR and assessed risk factors for renal damage and clinical morbidity. MATERIAL AND METHODS: We included patients (<18 years) at diagnosis with low-grade (1-3) or high-grade (4-5) primary VUR and noted their clinical history and presence of hypertension, low eGFR (<60ml/in/1.73 m2), renal scarring (focal or generalised) and reduced differential renal function (DRF; <45%). Risk factors were assessed (in patients and renal units) by logistic regression and generalised estimating equation. RESULTS: Of 399 primary VUR patients, 255 (64%) had high-grade VUR. Indications for voiding cystourethrogram were recurrent UTI (38%), first UTI (28%) and antenatal hydronephrosis (17%). At diagnosis, 252 (65%) had renal scars (focal in 170 [44%], generalised in 82 [21%]), and 188 (47%) had reduced DRF. High-grade VUR patients were more likely than low-grade VUR patients to have renal scarring (75% vs. 49%, p < 0.01), low eGFR (23% vs. 13%, p = 0.04) and significant hypertension (26% vs. 13%, p = 0.02). High-grade VUR was associated with generalised scars (odds ratio [OR] 11, p < 0.001), focal scars (OR 3.1, p < 0.001) and reduced DRF (OR 2.3, p < 0.001) shown in the table. Male sex was a risk factor for generalised scars (OR 2.3, p = 0.005). Focal scars were associated with recurrent UTIs (OR = 1.8, p = 0.004) and reduced DRF (OR 1.4, p = 0.027). Patients with multiple focal scars were diagnosed at an older age (2 years [1,4] than those with single scars (1.5 years [1,4] or no scars (1 year [0, 3]), p = 0.04). DISCUSSION: The prevalence of renal damage and clinical morbidity at VUR diagnosis was higher than other studies. High-grade VUR patients had a greater prevalence of renal damage, low eGFR and hypertension than low-grade VUR patients and was a risk factor for focal scars, generalised scars and reduced DRF. Focal scars were independently associated with recurrent UTI. Those with multiple scars were diagnosed later than those with single scars or no scars. CONCLUSIONS: High-grade VUR was associated with renal damage and clinical morbidity. Our study highlights the importance of diagnosing VUR early to identify patients who may warrant long-term follow-up and intervention to minimize morbidity.

Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) cover a spectrum of structural malformations that result from aberrant morphogenesis of kidney and urinary tract. It is the most prevalent cause of kidney failure in children. Hence, it is important from a clinical perspective to unravel the molecular etiology of kidney and urinary tract malformations. Causal variants in genes that direct various stages of development of kidney and urinary tract in fetal life have been identified in 5-20% of CAKUT patients from Western countries. Recent advances in next generation sequencing technology and decreasing cost offer the opportunity to characterize the genetic profile of CAKUT in Indian population and facilitate integration of genetic diagnostics in care of children with CAKUT. METHODS: Customized targeted panel sequencing was performed to identify pathogenic variants in 31 genes known to cause human CAKUT in 69 south Indian children with CAKUT. The NGS data was filtered using standardized pipeline and the variants were classified using ACMG criteria. Genotype and phenotype correlations were performed. RESULTS: The cohort consisted of children mostly with posterior urethral valve (PUV) (39.1%), vesico-ureteric reflux (VUR) (33.3%) and multi-cystic dysplastic kidney (MCDK) (7.2%). No pathogenic or likely pathogenic variants were identified in the study. Most of our variants (n = 39, 60%) were variants of unknown significance with 25.6% (10/39) of them were identified as potentially damaging but were novel variants. CONCLUSIONS: The present study did not identify any disease-causing monogenic variants in the cohort. The absence of genetic cause may be due to limitations of panel-based testing and also due to higher proportion of children with abnormalities in lower urinary tract than hypodysplasia of kidneys. Clinical, larger targeted panel or whole exome sequencing may be a better method to characterize the genetic profile of Indians patients with CAKUT.

Recurrent pneumonia owing to migratory peanut foreign body.

Accidental foreign body aspiration in children is a leading cause of childhood morbidity. Prompt recognition and timely management reduce complications, some of which are potentially fatal. A previously well 2-year-old girl presented with recurrent episodes of cough, fever and tachypnoea with chest indrawing for the previous 7 months. The first episode lasted almost 4 weeks. There was no history of choking. She was underweight (Z-score -2 to -3) with initially normal height. The chest radiograph demonstrated opacities in the left lung first, but subsequently there were lesions in both lungs. Computerised tomography confirmed the chest radiograph findings. Bronchoscopy demonstrated pus and granulomatous tissue in the left main bronchus, but no foreign body was detected and she was treated with antibiotics. Over the following 18 months she had several outpatient and four inpatient treatments for the same complaint. There was progressive weight loss, stunting and she developed finger clubbing. During her fourth admission, a repeat bronchoscopy again demonstrated granulomatous tissue with pus in the left main bronchus and remnants of a migratory peanut and signs of early bronchiectasis. Following removal of the peanut, her health began to recover, and, at follow-up a year later, her chest radiograph was normal, her growth had caught up and she was in normal health.

Retaining the refluxing lower ureteral stump of a non-functioning kidney to preserve contralateral renal function.

BACKGROUND: It is crucial to preserve the renal parenchyma in a solitary renoureteric system, especially when associated with VUR and/or elevated bladder pressures. AIM: The present study examined the effect of retaining the refluxing lower ureteral stump of a non-functioning renal unit (during nephrectomy) as a stoma to preserve contralateral renal function. STUDY DESIGN: Twelve children with various uropathologies (six with PUV, three with primary VUR, and three with neurogenic bladder) and a solitary functioning kidney were retrospectively analysed. In each, besides the relevant investigations and specific management, nephrectomy was performed for a non-functioning kidney with recurrent UTI (10/12) or hypertension (2/12), and the ipsilateral distal ureteric stump was exteriorised as a refluxing stoma. Antimicrobial prophylaxis was given to those with VUR into the solitary kidney (9/12). All were on strict follow-up at a dedicated paediatric nephrourology clinic with serial clinical, biochemical and radiological surveillance. RESULTS: The mean age at presentation and surgery was 19.7 months (range 0.5-96) and 30.5 months (range 3-100), respectively. Recurrent UTI (10/12) and acute renal failure (8/12) were common presentations; 2/12 were hypertensive. The initial serum creatinine ranged from 0.3 to 7.2 (mean 2.3) mg/dl. Of the solitary functioning kidneys with VUR (9/12), seven had Grade 5 VUR and six had renal cortical scars. The stoma served as an intermittent vent (9/12), for CIC (4/12) or for both purposes (3/12). Although all were Grade 5 refluxing ureters, 3/12 stomas remained dry. At a mean follow-up of 30 months (12-48), 9/12 were well and 3/12 were in end-stage renal disease. None had a UTI after the procedure. VUR resolved in five ureters that sub-served the contralateral solitary kidney. Serial DMSA renal cortical scans showed no scarring in four children, non-progressive scars in three and new scars in two. At the last follow-up, four (one dry, three leaking) were being used for CIC, four (one dry, three leaking) had been closed and four (one dry, three leaking) were retained until resolution of contralateral reflux/non-progression of scarring (three) or for possible CIC in the future (one). DISCUSSION AND CONCLUSION: Retaining the refluxing lower ureteral stump of a non-functioning kidney as a cutaneous stoma provided a vent and an alternative channel for CIC of the bladder (Figure). Subsequently, fewer UTI seemed to protect the contralateral solitary functioning kidney, particularly in those with associated VUR. In this preliminary study, the procedure was simple and the stoma was well accepted by patients and parents.

Congenital inclusion tumours in spinal dysraphism.

OBJECTIVE: To review the presentation, diagnosis and management of children with spinal dysraphism and CIT. METHODS: It is a retrospective review of 146 children of spina bifida over 9 years (2000-2008) and details the clinical course and outcome of seven with associated congenital inclusion tumors. RESULTS: 7/146 (4.7%) had spina bifida with CIT, 5 dermoid cysts and 2 mature teratoma. The diagnosis was missed by the primary physician even in the presence of a neurocutaneous marker. Spinal imaging with MRI was conclusive. All were managed with multilevel laminectomy, near total/total excision of the CIT and detethering of cord. Intramedullary involvement and established neurological deficits at presentation were associated with persistent deficits. CONCLUSION: Early detection and comprehensive management of CIT with spinal dysraphism ensures social fecourinary continence, preserves renal function, achieves ambulation and enables patients to lead an acceptable quality of life.

Tracheobronchial foreign bodies in infants.

OBJECTIVE: Tracheobronchial foreign body aspiration (FBA) is a common cause of respiratory distress between 1 and 3 years of age. Literature on airway foreign bodies in this age group is abundant; however no study has addressed this problem in infants exclusively. This study aimed to review the clinical presentation, management and outcome of infants with tracheobronchial foreign bodies at a referral tertiary care hospital over a decade. METHODS: 102 infants who underwent bronchoscopy for suspected FBA from 1997 to 2007 were retrospectively reviewed. Details of demographic data, clinical features, radiologic and bronchoscopic findings, postbronchoscopy events and eventual outcome were analysed. RESULTS: The mean age was 10.5 months. 8 (7.8%) were 0-6 months of age, the youngest being 2 months. Males outnumbered (72:30) females. 10 (9.8%) presented secondarily after treatment elsewhere, 6 of them were initially misdiagnosed. The onset-presentation interval ranged from 1 day to 3 months, 41 (40.2%) reporting within a day and 19 (18.6%) a week after onset. 20 (19.6%) had no history suggestive of FBA but harboured airway FBs at bronchoscopy. The clinical triad of cough, respiratory distress and stridor was highly predictive of FBA. 8 (7.84%) had no abnormal physical findings while 8 (10.81%) had grossly normal chest radiographs. All the patients underwent emergency/elective rigid bronchoscopy (Karl Storz system) under general anesthesia as in-patients. The physical findings did not always correlate with radiology or bronchoscopic location of the FB. A peanut cotyledon was the commonest FB retrieved across infancy; in 5 (4.9%) no FB was found/identifiable. 2 required postbronchoscopy mechanical ventilation and 1 a repeat bronchoscopy. There were 6 complications but no mortality in the series. The average hospital stay was 1.4 days. At a week's follow-up, all were asymptomatic and well. CONCLUSIONS: The clinical presentation, diagnosis and management of FBA in 102 infants are presented and certain peculiar features are described. A high index of suspicion coupled with a combination of history, physical signs and radiology is more conclusive than any of them in isolation. Availability of expertise and endoscopic equipment ensures a favourable outcome without significant morbidity and mortality.