Kashish Khanna

A review of genetic factors contributing to the etiopathogenesis of anorectal malformations

BackgroundAnorectal malformation (ARM) is a common congenital anomaly with a wide clinical spectrum. Recently, many genetic and molecular studies have been conducted worldwide highlighting the contribution of genetic factors in its etiology. We summarize the current literature on such genetic factors.Materials and methodsLiterature search was done using different combinations of terms related to genetics in anorectal malformations. From 2012 to June 2017, articles published in the English literature and studies conducted on human population were included.Observations and resultsA paradigm shift was observed from the earlier studies concentrating on genetic aberrations in specific pathways to genome wide arrays exploring single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) in ARM patients. Rare CNVs (including 79 genes) and SNPs have been found to genetically contribute to ARM. Out of disrupted 79 genes one such putative gene is DKK4. Down regulation of CDX-1 gene has also been implicated in isolated ARM patients. In syndromic ARM de novo microdeletion at 17q12 and a few others have been identified.ConclusionMajor genetic aberrations proposed in the pathogenesis of ARM affect members of the Wnt, Hox (homebox) genes, Sonic hedgehog (Shh) and Gli2, Bmp4, Fgf and CDX1 signalling pathways; probable targets of future molecular gene therapy.

Hydrometrocolpos etiology and management: past beckons the present

Hydrometrocolpos is a rare condition in which the uterus and the vagina are grossly distended with a retained fluid other than pus or blood. It may present during the neonatal period or later at puberty. Most cases reported earlier were stillbirths and were diagnosed only on autopsy. Antenatal diagnosis is now possible with the advent of ultrasound. An early diagnosis and speedy management is the key to survival. Many previous case reports have focused on the varied clinical presentations, multiple causes, associated syndromes and/or the radiological diagnosis of this condition. However, management options for different types of hydrometrocolpos have not yet been concisely discussed. We have reviewed the literature and tried to summarize the management options applicable to most case scenarios of hydrometrocolpos.

Closed gastroschisis with left defect: a rare variant

Gastroschisis is a congenital abdominal wall defect where the intestine, stomach and rarely the other abdominal organs like the ovary, urinary bladder and the liver eviscerate through the defect. It occurs in 4–5 per 10u2009000 live births and is more common in preterm, low birth weight and female babies. Very rarely, the abdominal wall defect completely closes around the eviscerated bowel resulting in closed gastroschisis (CG). This constitutes 6% of all gastroschisis.1nnA 2.2u2009kg term baby boy delivered at home at 36u2009weeks of gestation presented on dayxa01 of life with an eviscerated loop of herniated bowel segment seen to the left of the umbilicus (figure 1). The bowelxa0loop was uncovered, erythematous and congested, butlooked viable; the underlying umbilicus was closed. The child had bilious vomiting and had not passed meconium. The X-ray of the abdomen was suggestive of intestinal obstruction. The child was resuscitated,xa0and exposed bowel was covered with an indigenous plastic silo …

Antenatally Diagnosed Surgical Conditions: Fetus As Our Patient

In today’s era of improved antenatal care and screening modalities (3D high-resolution fetal ultrasound, fetal magnetic resonance imaging, fetal echocardiography, maternal serum markers and fetal blood sampling), an early diagnosis of surgical fetal abnormalities is routinely possible. A thorough knowledge about the incidence of such defects, the means of detection and evaluation, the scope of fetal intervention, postnatal management and long-term outcomes of common surgical conditions diagnosed antenatally is essential. This knowledge would not only help in proper patient care and management but also to ensure appropriate counselling of the expectant parents. This article highlights the fetal anomalies which are amenable to some form of fetal intervention from a pediatric surgical perspective as also those which can be treated after birth.

Rapunzel syndrome: a tail too long to tell!

Trichobezoar leading to Rapunzel syndromexa0(RS) is an extremely rare entity with about 90 cases reported in literature.1 RS derives its name from the fairy tale ‘Rapunzel’, where the German princess let her long golden hair down from her tower to facilitate a tryst with her lover akin to the long and shiny tail of hair seen in RS.2 Hair being slippery gets trapped in gastric mucosal folds, eluding peristalsis. More and more hair conglomerate to form a stomach-shaped mass coated with mucus called trichobezoar. This provides it a shiny glistening surface, and the acid secreted in stomach denatures the hair protein which gives it the typical black colour.3 When the tail of hair extends beyond the stomach into the small intestine, it is called RS.nnA 6-year-old girl presented to our emergency departmentxa0with history of abdominal pain and recurrent vomiting for 3–4 days. On examination she was dehydrated, had tachycardia and looked malnourished. Her abdomen was grossly distended without signs of peritonitis. An X-ray abdomenxa0(erect) showed four-air-fluid levels suggestive of acute small bowel …

Simple surgical solution: scaphoid type congenital megalourethra

Congenital megalourethra (CM) is an uncommon paediatric urogenital problem with less than 80 reported cases1 and may go ignored for years. It is defined as dilatation and elongation of the penile urethra associated with the deficiency of the corpora cavernosa and/oru2009spongiosum. It may be of scaphoid or fusiform variety. However, surgery in most cases may be challenging.nnA 10-year-old boy presented with the complaint of a swelling appearing on the under-surface of the penis during voiding since birth. This persisted even after micturation and had to be milked out post voiding. His urinary stream was of good calibre and normal volume. There was no associated history of urinary tract infection or obstruction. External genital examination was normal with bilateral descended testes, stretched penile length=4.5u2009cm, normal prepuce andxa0normally positioned urethral meatus. However, dilatation of the dorsal penile shaft was observed during micturation. A retrograde cum voiding cystourethrography revealed dilatation of the anterior urethra (maximum diameter=1.68u2009cm), normal posterior urethra, urinary bladder and no reflux (figure 1A, …

Enterolithiasis in posterior urethral diverticulum: an uncommon complication following surgery for anorectal malformation

A posterior urethral diverticulum (PUD) may be formed when a part of the terminal rectal stump is left attached to the posterior urethra during fistula ligation in surgery for anorectal malformation (ARM).nnA 13-year-old boy presented with the complaints of burning micturition, postvoidxa0dribbling and vague pain in the left lower abdomen for the last 4 months. The child had high ARM and underwent all three stages of surgery (colostomy, transabdominal pull-through procedure and colostomy closure) elsewhere. On evaluation, the plain X-ray pelvis showed huge, multiple radio-opaque shadows in the region of the bladderxa0(figure 1A). On an ultrasound, these acoustic shadows caused by the stones appeared to be posterior to the bladder and could not be appreciated well in full bladder state. A CT scan further confirmed these radio-opaque shadows to …

Total midgut duplication: a ticking time bomb

A day-old neonate presented with bowel obstruction and an abdominal mass. Exploratory laparotomy revealed complete tubular midgut duplication from duodeno–jejunal junction up to terminal ileum which was communicating with the ileum distally. At the proximal end, another 5×5u2009cm duplication cyst was identified and excised. Postoperatively, complaints were relieved. During follow-up, 99m-Tc-pertechnetate-SPECT scan showed ectopic gastric mucosa in lower abdomen and in the right hemithorax. CECT-chest showed a 3×3u2009cm foregut duplication cyst, but there were no respiratory symptoms. While being planned for an elective surgery, he presented at 6 months of age in emergency with massive bleed per-rectum and shock. He underwent Wrenn procedure without any injury to the normal bowel. The thoracic foregut duplication cyst was excised later. Total midgut duplication, though benign, may present with life-threatening haemorrhage if left untreated. Presence of one such lesion warrants a search for others. Mucosal stripping is a simple and safe alternate to resection.

‘Mutiny on the crown’: two cases of rare cephalic malformations

The presentation and management of two bizarre congenital cephalic curiosities at the two extremes of the clinical spectrum are discussed herewith. Case 1: presented to us as a neonate with a scalp swelling mirror-imaging her head and face. The journey from clinics to wards and to the operation theatre and to her home is introspected. Case 2: presented to us as dicephalous dibrachius dipus parapagus conjoined twins. The detailed work-up of individual organ systems, the multidisciplinary approach to management and the final outcome are discussed. This is an unsolved mystery for the anatomists, paediatric surgeons, radiologists and the medical fraternity at large.

Caecal volvulus with intestinal malrotation: need for caecopexy?

Caecal volvulus accounts for 30% of all colonic volvulus.1 It occurs due to torsion or hyperflexion of an enlarged, poorly fixed hypermobile caecum. It manifests in two forms: axial rotation of the caecum and the ileum around the mesentery and the less common caecal bascule, where the bowel folds up on itself.2 Intestinal malrotation occurs due to incomplete or faulty rotation and fixation of the gut during the 5th to 11th week of fetal life. A combination of both is rare.nnA 10-year-old boy presented with the complaints of right lower quadrant pain, bilious vomiting and non-passage of stools since 2 days. On examination, the child was dehydrated, had tachycardia, had low-volume pulse, had blood pressure …