Multiple neural tube defects may not be very rare.

BACKGROUND: Multiple neural tube defects (MNTDs) are a rare occurrence. Although the clinical incidence is small, MNTDs raise some interesting embryological queries. AIM: This study aims to investigate the morphological and clinical variations observed in neonates presenting with multiple neural tube defects and associated central nervous system anomalies. MATERIALS AND METHODS: This is a prospective study carried out at our institute to assess clinical and morphological variation in patients presenting with multiple neural tube defects. RESULTS: Among the 263 patients with a neural tube defect, who presented to our outpatient department and emergency departments, only 10 cases of MNTDs were identified. Thus, incidence of MNTDs in the cohort of patients affected with NTD was 0.038 %. Among the 10 patients, 9 had double neural tube defects and 1 patient had three neural tube defects. CONCLUSIONS: Multiple neural tube defects may not be very rare in the general population, especially the populations with high incidence of neural tube defects. Multisite closure theory has the versatility to explain various combinations of neural tube defects, but better insights into the molecular pathways governing this tightly regulated process can provide us the missing link in establishing the pathogenesis of multiple NTDs. It can also provide us with an opportunity to prevent NTDs or treat them in utero by pharmacological modulation of these signaling pathways.

Pancreaticoduodenectomy for paediatric pancreatic trauma with a decade of follow-up.

Pancreaticoduodenal injuries are rare in children. They pose challenges for the treating surgeon in decision making with respect to diagnosis, surgical and post-surgical management. The management plan must be tailored to the nature and severity of trauma, patient profile, surgeon's expertise and the resources available at surgeon's disposal. We describe a pancreaticoduodenal injury in 3-year-old child with successful outcome and follow-up of a decade.

Risk of surgical site infection in paediatric herniotomies without any prophylactic antibiotics: A preliminary experience.

BACKGROUND: Different studies underline the use of pre-operative antibiotic prophylaxis in clean surgeries like herniotomy and inguinal orchiopexy. But, the meta-analyses do not recommend nor discard the use of prophylactic pre-operative antibiotics. The scarcity of controlled clinical trials in paediatric population further vitiates the matter. This study assessed the difference in the rate of early post-operative wound infection cases in children who received single dose of pre-operative antibiotics and children who did not receive antibiotics after inguinal herniotomy and orchiopexy. MATERIALS AND METHODS: This randomised prospective study was conducted in Paediatric Surgery department of PGIMER Chandigarh. Out of 251 patients, 112 patients were randomised to the case group and 139 were ascribed to the control group. The patients in control group were given a standard regimen of single dose of intravenous antibiotic at the time of induction followed by 3-4 days of oral antibiotic. Case group patients underwent the surgical procedure in similar manner with no antibiotic either at the time of induction or post-operatively. RESULTS: The incidence of surgical site infection in case group was 3.73 % and that in control group was 2.22%. The observed difference in the incidence of surgical site infection was statistically insignificant (P value = 0.7027). The overall infection rate in case and control group was 2.89%. CONCLUSIONS: Our preliminary experience suggests that there is no statistically significant difference in the proportion of early post-operative wound infection between the patients who received single dose of pre-operative antibiotics and the patients who received no antibiotics after inguinal herniotomy and orchiopexy. The risk of surgical site infection in paediatric heriotomies does not increase even if the child's weight is less than his/her expected weight for age.

Devastating penile mycosis leading to penile gangrene.

Infective penile gangrene is a rare but known complication of circumcision. The causes may vary from neutropenia, diabetes mellitus, and human immunodeficiency virus infection to lymphoproliferative malignancy. Penile mycosis leading to penile gangrene is a rare entity. Only 1 case has been reported in an adult. Juvenile diabetes mellitus is a peculiar predisposing factor for mycotic infections. We report a case of mycotic penile gangrene in a diabetic child to highlight its potentially preventable disastrous outcome.

Gastroschisis with ceco-appendicular agenesis: a novel presentation.

Gastroschisis is associated with intestinal atresia and malrotation. A few cases have been reported of appendicular agenesis associated with gastroschisis. No previous case has been reported of cecal agenesis with gastroschisis in the literature. As cecal agenesis is a very rare anomaly, its concomitant presentation with gastroschisis is extremely rare. We report a case of gastroschisis associated with ceco-appendicular agenesis. The possible embryological explanation for the presentation is discussed.

Rectal impalement presenting as bladder stones: delayed and unusual presentation.

Anorectal impalement is an uncommon mode of injury in children, with only a few case reports in the pediatric literature. No report describes a clinical presentation with bladder stones in a child, as in our case. This case highlights the need to maintain a high index of suspicion in all cases of rectal impalement, and the need for thorough clinical examination even in the most trivial of the injuries.

Novel association of multiple gastrointestinal anomalies in a single patient: can Sonic Hedgehog explain it?

The occurrence of four gastrointestinal (GIT) anomalies in a single patient is extremely rare. Only one report of four GIT anomalies in a child has been published in the English literature. The current report presents a child with four anomalies and discusses the molecular mechanisms which control the development of the gastrointestinal tract.

Novel association of VACTERL, neural tube defect and crossed renal ectopia: sonic hedgehog signaling: a point of coherence?

The present case report describes two patients with a novel combination of VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb), neural tube defect and crossed renal ectopia. Though cases of VACTERL associated with crossed renal ectopia have been described, the present case report is the first to describe its combination with neural tube defect. The cases reported here are significant because central nervous system manifestations are scarce in VACTERL syndrome. The role of sonic hedgehog pathway has been proposed in VACTERL association and neural tube defects. Axial Sonic hedgehog signaling has also been implicated in the mediolateral positioning of the renal parenchyma. With this knowledge, the etiopathogenesis of this novel combination is discussed to highlight the role of sonic hedgehog signaling as a point of coherence.

Extraadrenal pheochromocytoma with renal artery "pseudostenosis"-an important pitfall.

Pheochromocytoma and renal artery stenosis are two common causes of surgically correctable childhood hypertension that may coexist. We describe a case of extraadrenal pheochromocytoma with left upper polar renal artery pseudostenosis. The tumor was excised, preserving the accessory renal artery and kidney. The child was normotensive and did not require drugs postoperatively. Radiologic appearance of stenosis does not necessarily mean fixed renal artery stenosis, especially with a pheochromocytoma because it may exist as a result of vasospastic effects of the pheochromocytoma. Incorrect diagnosis may result in untoward risk and unnecessary procedures for the patient, hence the need to remember this pitfall.

Embryogenesis of triple neural tube defects: sonic hedgehog--a key?

Neural tube closure is a complex spatio-temporal process. Multiple neural tube defects (NTDs) in a single patient are extremely rare. Only a few cases of multiple NTDs have been reported in the world literature, including less than 20 cases of double NTDs and 3 cases of triple NTDs. We report a fourth case of triple NTDs and review the literature regarding the embryogenesis. An effort is made to understand the theories of neural tube closure in light of recent advances in molecular biology and identification of the signaling pathways involved.

Non-healing sinus on the back: a rare presentation of genitourinary tuberculosis.

A case is reported of renal tuberculosis presenting as a non-healing sinus in the renal area. This presentation of renal tuberculosis is very rare, especially in the pediatric age group.

Esophageal atresia with tracheo-esophageal fistula: Accidental transtracheal gastric intubation.

The diagnostic feature of esophageal atresia (EA) is the inability to pass a catheter into the stomach. EA can be ruled out if the feeding tube can be passed into the stomach. In EA, when a tracheo-esophageal fistula (TEF) is present, theoretically the feeding tube can find its way into the stomach via tracheal route and through the TEF. We report such a rare occurrence. In this situation, the diagnosis and further management of EA and TEF was delayed.