Devendra K. Gupta

Pathogenesis of the prune belly syndrome

The triad of abnormalities of the prune belly syndrome may arise simply from the effects of early urethral obstruction or alternatively from a basic defect of the mesoderm from which the triad of abnormalities develops. The urethra and genital tract of 21 prune belly syndrome specimens and 23 specimens of Youngs posterior urethral valves types 1 and 3 were compared in a study for differences in the pathological anatomy that may elucidate the controversy. The specimens were dissected and investigated radiographically and histologically. The seminal ducts and vesicles, and prostatic glands were abnormal in the prune belly syndrome specimens and normally developed in the posterior urethral valve specimens. We contest that this major difference stems from a primary defect of the intermediate and lateral plate mesoderm in the prune belly syndrome which would affect the embryogenesis not only of the mesonephric and paramesonephric ducts but also of the musculature of the abdominal wall and urinary organs, and that prune belly valves when present are intrinsic components of the mesodermal defect of the prune belly syndrome urethra.

Association between lower hair zinc levels and Neural Tube Defects

Though folic acid supplementation has reduced the incidence of Neural Tube Defects (NTD), NTD still constitutes one of the important congenital malformations having wide medical, social and ethical implications. Zinc deficiency has been reported to produce NTD in animals. This study was designed to evaluate zinc status of the newborn babies with NTD and their mothers. Eighty newborn babies with NTD and their mothers served as cases. Eighty apparently normal newborn babies and their mothers served as controls. Serum and scalp hair zinc levels were analyzed by atomic absorption spectrophotometry. The mean (± SD) serum and hair levels in normal mothers were 74.1 ± 4.1 μg/dl and 142.3 ± 8.0 μg/g respectively. The mean (± SD) serum and hair levels of the mothers who delivered NTD babies were 75.7 ± 5.6 μg/dl and 129.9 ± 5.3 μg/g respectively. The mean (± SD) serum and hair levels in normal newborn babies were 77.8 ± 5.3 μg/dl and 188.8 ± 6.2 μg/g respectively. The mean (± SD) serum and hair levels in NTD babies were 80.1 ± 12.9 μg/dl and 174.2 ± 10.7 μg/g respectively. The hair zinc levels of the affected babies and their mothers were significantly lower (P< 0.001) than the controls. This study has found association between NTD and decreased hair zinc levels and large population based studies are recommended to confirm the association between zinc and NTD and to investigate whether zinc supplementation would reduce the overall incidence of NTD.

Gastric teratoma in children.

Abstract Gastric teratoma (GT) comprises less than 1% of all teratomas in children. Though GT in the presence of immature neuroepethelial elements is regarded as malignant, the prognosis is excellent after complete excision of the tumor. Because of its rarity the world literature lacks a large study. Clinical experience with ten cases of GT is presented and discussed. Only one patient was female; the mean age at presentation was 3.2 months. Two cases were immature grade III GT; one of these had infiltrated the left lobe of the liver and the transverse colon while the other had metastasized to the regional lymph nodes and omentum. All the patients underwent complete excision. There were no deaths, and after a mean follow-up period of 4.2 years, all the patients had no recurrence and were healthy. Both the mature and immature types of GT have an excellent prognosis after complete excision of the tumor. Even when the immature type infiltrates surrounding structures, complete excision offers recurrence-free survival without requiring chemo- or radiotherapy.

Percutaneous nephrostomy in children with ureteropelvic junction obstruction and poor renal function

OBJECTIVES To evaluate the results of performing percutaneous nephrostomy (PCN) in all patients with kidneys with ureteropelvic junction obstruction (UPJO) and split renal function (SRF) of less than 10%, because the management of such cases is still under debate. If SRF improves, we perform pyeloplasty, otherwise nephrectomy is done. METHODS The records of all patients with UPJO (n = 20; 17 unilateral and 3 solitary kidney) with poor function who underwent PCN were analyzed. The PCN remained in situ for at least 4 weeks, during which patients received low-dose oral trimethoprim prophylaxis. Repeated renography was obtained after 4 weeks. If no improvement in the SRF had occurred, nephrectomy was performed, otherwise pyeloplasty was performed. The patients were followed up with renograms at 3 months, 1 year, 2 years, and 5 years. RESULTS Twelve of 17 kidneys with unilateral UPJO improved after PCN drainage and underwent pyeloplasty. The 5 kidneys that did not show improvement in the SRF underwent nephrectomy. In the patients with unilateral UPJO who improved after PCN drainage, the SRF increased to 29.2% +/- 12.6% and pyeloplasty was performed. At a mean follow-up of 2.3 years, none of these patients had developed hypertension, and the most recent SRF value was 31.4% +/- 12.8%. CONCLUSIONS Most of the poorly functioning UPJO kidneys show improvement in function and not all such kidneys should be removed without a trial of PCN.

Factors affecting outcome in the management of posterior urethral valves

Abstract Children with posterior urethral valves (PUV) are at high risk for renal failure (RF). The outcome of renal function is significantly influenced by early diagnosis and the choice of primary therapy. We reviewed the outcome of renal function in 58 children with PUV. The choice of therapy in each case – primary valve fulguration, vesicostomy, or high ureterostomy – was individually decided on the basis of the response to initial catheter drainage of the bladder. Patient age at diagnosis varied from newborn to 5.5 years, and follow-up ranged from 1.6 to 6 years (mean 3.9 years). The most common procedure was primary endoscopic valve ablation, which was carried out in 56.8% of cases. The other procedures were vesicostomy in 32.75% and high ureterostomy in 10.45%. Most neonates (66.6%) had RF at presentation, but one-half of them had achieved normal serum creatinine values at last follow-up. The recovery of renal function was lowest (33%) in older children where the diagnosis was delayed. A comparison between two groups of neonates and infants who differed on the basis of creatinine concentrations at 1 year of age suggested a statistically significant trend: children with normal or near-normal serum creatinine (0.8 mg/dl or less) by 12 months of age maintained good renal function at the time of final evaluation (1.0 mg/dl or less). Children with higher creatinine values at 1 year of age continued to have progressive RF. Seventy-five percent of the patients who had undergone early high ureterostomy after failure to respond to initial catheter drainage had regained normal renal function. We conclude that: serum creatinine at presentation is not predictive of subsequent renal function, but the values after a period of urinary-tract decompression are prognostically more useful; delay in diagnosis results in a poor outcome of renal function; and for optimal recovery of renal function, the choice of the primary procedure varies from case to case and can be determined by a systematic, stepwise approach (stepladder protocol).

Congenital anterior urethral diverticulum in children.

Abstract Congenital anterior urethral diverticulum (CAUD) is an uncommon condition in children usually presenting as a fluctuant ventral penile swelling. Retrospective data of nine patients with CAUD were analyzed. Patients presented with penile swelling (n=7), recurrent urinary tract infection (UTI) (n=5), and poor urinary stream (n=2). One patient who had gross pyuria was treated with initial marsupialization of the diverticulum and later underwent a definitive surgical procedure. One had deranged renal function, grade IV vesicourethral reflux (VUR), and UTI and was treated with initial urinary diversion followed later by excision of the diverticulum and urethral reconstruction. Of the seven patients who underwent primary repair of the diverticulum, all except one had a normal urethrogram on follow-up. One patient developed a stricture of the urethra that was treated with dilatations and is presently asymptomatic. In the two patients who had bilateral VUR, one grade III and the other grade IV, preoperatively, the reflux subsided and did not require antireflux surgery. Only one patient is on low-dose urinary antibiotic prophylaxis and presently has grade II reflux. Primary excision and repair is the preferred mode of treatment for CAUD. CAUD producing obstructive uropathy and VUR can be managed conservatively. In the presence of gross pyuria, marsupialization of the diverticulum followed by definitive surgery at a later date is safe and recommended.

Epigastric heteropagus twins--a report of four cases.

Abstract Asymmetrical conjoined twinning is an extremely rare congenital anomaly constituting only 1%–2% of all conjoined twins. In epigastric heteropagus twins (EHT), the dependent portion (parasite) is smaller than the host (autosite). The embryopathy is related to incomplete cleavage of the embryo at 2 weeks of gestation. However, some form of ischaemic insult in early gestation leads to selective atrophy of the cranial part of one of the monozygous twins. We report our experience with four cases of EHT and a review of the literature with a discussion of possible embryopathy.

Hepatic technetium‐99m‐mebrofenin iminodiacetate scans and serum γ‐glutamyl transpeptidase levels interpreted in series to differentiate between extrahepatic biliary atresia and neonatal hepatitis

Hepatic technetium‐99m‐mebrofenin iminodiacetate (99mTc‐mebrofenin IDA) scans and serum γ‐glutamyl transpeptidase (GGTP) have high sensitivity for extrahepatic biliary atresia (EHBA). This study was based on the hypothesis that the interpretation of results of 99mTc‐mebrofenin IDA scans and serum GGTP levels in series would result in a reduction of the false positivity observed with these tests individually. The aetiology of neonatal cholestasis in 132 study patients was: 25% (33/132) EHBA, 45.5% (60/132) neonatal hepatitis (NH) with an identifiable cause and 19.7% (26/132) idiopathic NH. Of the various clinical, biochemical and imaging parameters that were significantly different between patient groups, sensitivity for EHBA was: serum GGTP ≥ 150 IU 1−1(100%), 99mTc‐mebrofenin IDA scans (100%), pale stools (82.8%) and total serum bilirubin ≥ 12mg d1−1 (66%). However, specificity ranged from 48.5 to 79%. Of the 63 patients who had non‐excreting IDA scans, operative cholangiograms could be avoided on the basis of a specific aetiological diagnosis of NH, made concurrently, in only 9 infants. The rest (54) underwent operative cholangiograms; 21 (39%) of these had patent biliary trees and therefore underwent the procedure unnecessarily. If serum GGTP (<150 IU 1−1) had been used as a screen after IDA scanning in these 54 patients, operative cholangiograms could have been avoided in another 12 patients and thereafter only 9/42 (21%) of the operative cholangiograms would have been considered unnecessary.

Esophageal atresia: the total care in a high-risk population.

The outcome of cases of esophageal atresia depends on many factors that affect the prognosis. These factors have been identified since Waterston aimed to classify the anomaly according to the risk factors. There are other factors that affect the outcome, and these differ in different parts of the globe. This comprehensive review attempts to incorporate all the factors--preoperative, operative, and postoperative--that can pose risks to the ultimate survival of the baby. Early detection for proper management of these cases is essential. Feasibility to perform early esophageal replacement has come as a boom for these high-risk cases. Total care in a high-risk population of esophageal atresia depends on the investigative modalities adopted, available neonatal ICU care, and the surgeons experience. An attempt continues to decrease the associated morbidity and mortality in high-risk babies born with esophageal atresia and tracheoesophageal fistula.

Ambiguous genitalia--an Indian perspective.

Ambiguity of genitalia in the newborns and children still remains a poorly understood subject and even during the postgraduate teaching programmes, very little attention has been paid to make this subject popular. There is also no chapter “without tears” on the subject for the proper management and to prevent the agony of the parents resulting from the ignorance and the social stigma. The purpose of this brief communication is to project the practical management of Children with intersex disorders, based on our clinical experience from the pediatric intersex clinic at AIIMS.