Rare presentation of Limb Body Wall Complex in a Neonate: Case report and review of literature

The Limb Body Wall Complex (LBWC) aka. Body Stalk Syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks gestation. Our report highlights majority of the clinical presentations as reported in previous literature, but the significant pathological findings of absent genitalia and malformed genitourinary, anorectal malformations make this case presentation an even more rare occurrence. Infant karyotyping was normal male and there is no specific underlying genetic correlation in this condition which has fatal prognosis.

Operative Volume of Newborn Surgery in German University Hospitals: High Volume Versus Low Volume Centers

Introduction Adequate patient volume is essential for the maintenance of quality, meaningful research, and training of the next generation of pediatric surgeons. The role of university hospitals is to fulfill these tasks at the highest possible level. Due to decentralization of pediatric surgical care during the last decades, there is a trend toward reduction of operative caseloads. The aim of this study was to assess the operative volume of the most relevant congenital malformations at German academic pediatric surgical institutions over the past years. Methods Nineteen chairpersons representing university-chairs in pediatric surgery in Germany submitted data on 10 index procedures regarding congenital malformations or neonatal abdominal emergencies over a 3-year period (2015 through 2017). All institutions were categorized according to the total number of respective cases into “high,” “medium,” and “low” volume centers by terciles. Some operative numbers were verified using data from health insurance companies, when available. Finally, the ratio of cumulative case load versus prevalence of the particular malformation was calculated for the study period. Results From 2015 through 2017, a total 2,162 newborns underwent surgery for congenital malformations and neonatal abdominal emergencies at German academic medical centers, representing 51% of all expected newborn cases nationwide. The median of cases per center within the study period was 101 (range 18–258). Four institutions (21%) were classified as “high volume” centers, four (21%) as “medium volume” centers, and 11 (58%) as “low volume” centers. The proportion of patients operated on in high-volume centers varied per disease category: esophageal atresia/tracheoesophageal fistula: 40%, duodenal atresia: 40%, small and large bowel atresia: 39%, anorectal malformations: 40%, congenital diaphragmatic hernia: 56%, gastroschisis: 39%, omphalocele: 41%, Hirschsprung disease: 45%, posterior urethral valves: 39%, and necrotizing enterocolitis (NEC)/focal intestinal perforation (FIP)/gastric perforation (GP): 45%. Conclusion This study provides a national benchmark for neonatal surgery performed in German university hospitals. The rarity of these cases highlights the difficulties for individual pediatric surgeons to gain adequate clinical and surgical experience and research capabilities. Therefore, a discussion on the centralization of care for these rare entities is necessary.

Development of Sacral Ratio Percentile Card for Children: A Preliminary Report

Introduction Sacrospinal anomalies that may accompany anorectal malformations may cause fecal and urinary incontinence despite proper anomaly treatment. The sacral ratio has been suggested in the determination of both the prognosis in terms of incontinence and the need for further examination for sacrospinal anomalies. The normal and clinically decisive values of sacral ratio are given differently in publications. We aimed to determine the distribution of the sacral ratio in children under 12 months and to develop the sacral ratio percentile card that will enable one to give an age-independent parametric result in clinical evaluations. Materials and Methods The files of patients under 1 year of age who had anteroposterior direct radiography including pelvis were reviewed retrospectively. Sacral ratio was studied for 360 patients, 30 patients per month. Percentile card was developed with LMS software and reference values were used as 1, 2, 3, 4, and 10%. Results The lowest sacral ratio value was 0.514 and the highest value was 0.936. There was no statistical difference between the mean sacral ratio of the cases when they were classified on a monthly basis (p = 0.191). Low percentile values were found slightly different at first 4 months of age. Conclusion Although the mean of sacral ratio does not change significantly during the first year of life, values that are considered pathological for patients are within different percentile limits depending on age. Instead of using sacral ratio with some clinically decisive values, we think that parametric evaluation with the help of the percentile card will increase its clinical value.

Case report: a de-novo 7p12.3 microduplication detected in an infant with perineal hamartoma and imperforate anus

Background Anorectal malformations (ARM) represent a wide spectrum of defects. Caudal and genitourinary malformations can associate with anorectal malformations. Genetic factors may play role in the development of anorectal malformations. Perineal masses like sacrococcygeal teratoma, rectal prolapse, or duplication cysts were reported before, but their association with perineal hamartoma and anal atresia is extremely rare. Case presentation Here, we report an 11-month-old female infant. She had 551 kb duplication at 7p12.3 with perineal hamartoma and anal atresia consisting a cystic lesion with a diameter of 4 mm at the filum terminale (L2 vertebra) on lumbar magnetic resonance imaging (MRI) in neonatal period. She presented with hypotonia. She had anorectal anomaly and external perineal mass bulging from left major labium extending across anal region with imperforate anus. There was 1 × 1 cm polyp-like protrusion on it. She was operated in neonatal period. Genetic laboratory investigations showed karyotype 46, XX. The microduplication of the chromosome 7p12.3 was detected by microarray analysis. There were not any significant homozygous or heterozygous variants determined by whole-exome sequencing. Conclusions To the best of our knowledge, this is the first report of a patient with a microduplication of the chromosome 7p12.3, and second case with perineal hamartoma and imperforate anus. Clinicians should pay attention to microdeletions and microduplications while giving genetic counseling to patients with urogenital and anorectal abnormalities.