Hemonta Kr. Dutta

Congenital malformations in Assam

Aim: To determine the annual incidence of congenital malformations in Assam and to analyze the data. Materials and Methods: Data regarding babies born with congenital malformations in the state of Assam during the year 2006 were obtained through questionnaires and analyzed. The results were compared with similar Indian data. Results: The overall incidence of congenital malformation was 0.08%. This was considerably lower than similar published data from other states. Five hundred and eleven babies were born with congenital malformations, with 421 (82.4%) having major malformations. Males were affected more than females, 334 (65.4%) vs. 177 (34.6%). The gastrointestinal and genitourinary systems accounted for 26% and 25.8%, respectively. Malformation involving the central nervous system was more common in certain ethnic groups. Conclusions: The incidence of malformations in certain systems was at variance with the data from other states.

Fetus in fetu in a neonate: report of a case

Fetus in fetu (FIF) is a rare condition in which a malformed fetus resides in the body of its host. The presence of a well-formed vertebral column secures the diagnosis of FIF and differentiates this entity from a teratoma. Although more than 100 cases of FIF have been reported in the literature, the presence of a well-formed vertebral column is not documented in many cases. We herein report the case of a 19-day-old female who presented with a lump in the abdomen. Plain radiograph of the abdomen showed the presence of a well-formed vertebral column with long bones, and the results were confirmed with ultrasonogram and CT scans. Therefore, a preoperative diagnosis of FIF was made, and the mass was successfully excised. Upon opening the sac of the mass, a malformed anencephalic fetus was found.

Cloacal exstrophy: A single center experience

OBJECTIVE Cloacal exstrophy is an exceedingly rare and complex anomaly. The records of 23 patients treated in a tertiary care center with limited infrastructure were analyzed for anatomic types, associated anomalies, surgical procedures adopted, and the outcome. MATERIALS AND METHODS There were 14 males. Seventeen babies were preterm with an average weight of 1.92 kg. The time of presentation, gestational age, birth weight, position of the hemibladders and associated malformations were noted. Reconstruction procedures involved dismantling of the hemibladders and primary turn in, tubularization of the bowel with an end colostomy, and reconstruction of the abdominal wall. Results of the primary surgical repair, bowel function, and outcome of secondary procedures were analyzed. RESULTS The position of hemibladders was lateral in 11, upper confluent in 4 and lower confluent in 8. Associated anomalies were noted in 19 patients. Four patients presented late (>5 days). Five died preoperatively, all had major associated anomalies. Four of them were preterm with average weight of 1.4 kg. Two patients refused surgery. Single-stage surgical reconstruction was done in 15 patients. Five patients died postoperatively because of associated anomalies, prematurity, and sepsis. One patient is waiting for surgery. Six patients had follow-up at 3-42 months and are awaiting further reconstruction. Four patients were lost to follow-up. CONCLUSIONS Prematurity, late presentation, and sepsis are the major causes of high mortality noted in this series. In our experience, single-stage reconstruction without osteotomy gives satisfactory results.

Embryogenesis of esophageal atresia: Is localized vascular accident a factor?

Several theories on embryogenesis of esophageal atresia have been proposed, none could explain the whole spectrum of this anomaly. We report a new variant of esophageal atresia in which the two blind pouches were joined by an atretic band. Histology of the atretic part showed groups of striated muscle arranged haphazardly without any lumen. The existing theories on etiology of esophageal atresia cannot explain this variant. However, localized vascular accident during intrauterine life resulting in disturbances in regional microcirculation could be a possible factor as demonstrated by Louw and Barnard in relation to jejunoileal atresia. This is contrary to the current understanding that disproportionate growth of the horizontal esophageal folds results in esophageal atresia.

Segmental dilatation of ureter: Report of two cases

Segmental dilatation of ureter is a giant, focal segmental ureteral dilatation producing an elongated and distorted ureter. Two children presented with this condition, one had ipsilateral megacalycosis and contralateral vesicoureteric reflux. The other had duplication of the kidney. The non-functioning lower moiety showed structure of xanthogranulomatous pyelonephritis.

Hepatic lobectomy and mucosectomy of intrahepatic cyst for type IV-A choledochal cyst.

OBJECTIVE Excision of extrahepatic cyst with wide biliary-enteric anastomosis is the treatment of choice in choledochal cyst. The diseased mucosa of the residual cyst may be the cause for postoperative complications. Mucosectomy of the cyst wall may prevent such complications in type IV-A choledochal cyst. PATIENTS AND METHODS Five cases (male:female, 3:2) of type IV-A choledochal cyst, aged between 15 and 120 months, are presented. The intrahepatic cyst was confined to only the left lobe in 1 patient and the left and part of the right lobe in 4 patients. Excision of the extrahepatic cyst, left hemihepatectomy, mucosectomy of the residual intrahepatic cyst wall, and wide hepaticojejunostomy were done. RESULTS Median hospital stay was 20 days. Postoperative biliary leak in 1 patient stopped spontaneously after 3 weeks. Postoperative MRCP (magnetic resonance cholangiopancreatography) scan in 1 patient showed shrinkage of intrahepatic residual cyst and good biliary drainage. Liver function tests at 3 months, 6 months, and at yearly intervals were within reference range in all patients. Cholangitis, hepatolithiasis, or malignancy was not noted in any of the patients. Median follow-up period was 36 months. CONCLUSION Excision of the diseased mucosa from residual intrahepatic cyst wall may prevent long-term complications in patients with type IV-A choledochal cyst.

Evidence of gene-gene interactions betweenMTHFD1andMTHFRin relation to anterior encephalocele susceptibility in Northeast India: Folate Metabolism and Anterior Encephalocele

BACKGROUND Anterior encephalocele (AE) is a rare congenital anomaly of the central nervous system which is thought to be associated with genetic defects in folate metabolism. METHODS This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population. A total of 40 AE cases and 80 controls were investigated using polymerase chain reaction-restriction fragment length polymorphism technique. RESULTS MTHFR 1298CC was significantly associated with AE risk (odds ratio [OR] 4.21; p = 0.01). The MTHFR haplotypes 677C-1298C/677T-1298A (OR, 2.50) and 677T-1298C (OR, 2.86) conferred risk in a progressive manner (χ2 = 9.82; p < 0.01). MTHFD1 1958G>A was not associated with disease susceptibility. Children with the rs2236225 GA and the rs1801131 CC genotypes were at an increased risk as compared to the reference genotype of rs2236225 GG and rs1801131 AA (OR, 14.4; p = 0.02). Children with the rs2236225 GG and rs1801133 CT genotypes were also at an elevated risk (OR, 4.76; p = 0.01). The MTHFD1 polymorphism together with the MTHFR haplotypes elevated risk in a progressive manner (χ2 = 6.29; p = 0.01). CONCLUSION The data support our hypothesis of gene-gene interaction between MTHFD1 and MTHFR and the risk of AE. Together with the MTHFR haplotypes, MTHFD1 elevates risk in a progressive manner. The minor allelic frequencies of the MTHFD1 1958G>A and MTHFR 1298A>C in our populations were similar to those reported from Southeast Asian population, suggesting a possible explanation for the prevalence of this malformation in these regions. Birth Defects Research 109:432-444, 2017.

Gluteal teratoma: A rare site of extragonadal teratoma

Extragonadal teratomas are rarely encountered in infants and children. These tumors are reported in retroperitoneum, floor of the mouth, mediastinum, craniofacial region or even in the solid organs of the body. Most of the gluteal teratomas reported in the literature are in fact, lateralized sacrococcygeal teratomas. We are reporting a case of unilateral big gluteal teratoma in a 6-year-old girl. The tumor did not have any connection with the sacrum or coccyx and was successfully removed. Histology showed well-differentiated bowel as well as fetiform structures.

Management of extrahepatic portal vein obstruction in children: Experience in a tertiary care center in Northeast India

Background: Variceal bleeding in children is often a life-threatening condition for which timely and appropriate management is mandatory. It is a great challenge, especially in resource-constrained centers, to offer the best possible treatment by optimizing the available resources. Aim: To share the experience of management of extrahepatic portal vein obstruction (EHPVO) in children in a resource-constrained setup during the last one decade. Mode of presentation of the children, treatment options available, and outcomes were analyzed. Settings and Design: The study is a hospital-based prospective study conducted between August 2000 and December 2013. Materials and Methods: Seventy six children with EHPVO who bled at least once were included in the study. Common presentations were hematemesis and/or melena, splenomegaly, pain in abdomen, and ascites. In group A, 30 patients residing within the city area were managed conservatively with variceal banding [endoscopic variceal ligation (EVL)] alone. Group B consisted of 48 patients who hailed from outside the city area and had fundal varices and were offered shunt surgery. Fisher′s exact test and Chi-square tests were employed for statistical analysis. Results: The average number of EVL sessions for group A was 3.2. Variceal obliteration was achieved in 18 children and rebleeding was noted in 6. One patients from group A died and one had mild dysphagia. Fifty two shunt procedures were performed in group B patients. Mean operating time, blood loss, and hospital stay were 4.23 h, 690 mL, and 12 days, respectively. There was no operative mortality. Other complications were intestinal obstruction, ascites, rebleeding, and blocked shunt. Spleen size regressed appreciably following surgery and ascites resolved spontaneously. Two patients needed a second shunt surgery for the treatment of blocked shunt. The rates of rebleeding differed significantly between the two groups. Patients were blinded and independently evaluated in the pediatric gastroenterology clinic. Growth and development of the patients in both the groups were within normal limits. Mean follow-ups were 52.5 months for group A and 48.2 months for group B. Conclusion: Children presenting with variceal bleeding can be effectively managed with either EVL or shunt surgery depending on the available resources. However, children from far-off places are better managed with onetime shunt surgery.