We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1).Mowat-Wilson syndrome (MWS) is a recently delineated syndrome with multiple congenital anomalies and mental retardation (Amiel et al. 2001;Cacheux et al. 2001;Mowat et al. 1998;Wakamatsu et al. 2001;Zweier et al. 2002). MWS is characterized by distinctive facial features, short stature, and structural anomalies, including Hirschsprung disease (HD), genitourinary anomalies, congenital heart defects, agenesis or hypogenesis of the corpus callosum, and eye defects, as well as moderate to severe intellectual disability and severe speech impairment. We present a young female with a clinical diagnosis of MWS, confirmed by molecular analysis, presenting a severe course of HD.The proband was born to a G2,P1 healthy mother at 36 weeks of gestation. The parameters at birth were: weight 2600 g, length 52 cm, OFC 31 cm. Heart murmur, delayed meconium passage, and enterocolitis, were diagnosed after birth. Echocardiography showed a Fallot tetralogy. Radiographic barium enema studies suggested HD, which was confirmed by immunohistochemistry.During the operative procedure a short segment of aganglionosis was found and sigmoid colostomy was created. The postoperative course was complicated by multiple eventrations and severe sepsis. At the age of 18 months, the Duhamel procedure was planned. However, during the operation the Swenson procedure was performed, because of severe adhesions and difficult tissue preparation. The course of the disease was complicated again by leakage at the level of colorectal anastomosis, which required temporal protective ileostomy. Two days later the girl was reoperated because of severe haemorrhage from the rectum and through the peritoneal drain, but the source of bleeding was not found and she developed a sepsis. Ten days later ileal mechanical obstruction occurred. The ileostomy was closed 2 months later. The subsequent course was complicated by an incisional hernia. No congenital and acquired immunological defects were detected. However, hepatic cell lesion and a-1 antitrypsin deficiency (ATD) were revealed. The microscopic evaluation Abstract. We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1).

Objectives: The aims of this study were: to evaluate the prevalence of abdominal wall defects in the Polish population, to analyze temporal trends in the prevalence, to identify areas (clusters) of high risk of abdominal wall defects, and to characterize, with respect to epidemiology, children with abdominal wall defects and their mothers in the area defined as a cluster. Material and Methods: We used isolated congenital malformations (gastroschisis Q79.3 and omphalocele Q79.2 according to the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10, the extended version)) data reported to the Polish Registry of Congenital Malformations (PRCM) over the years 1998-2008 based on the population of 2 362 502 live births. We analyzed 11 administrative regions of Poland with complete epidemiologic data. Results: Of 11 regions, 2 had a significantly higher standardized prevalence of isolated gastroschisis: Dolnośląskie (1.7/10 000 live births, p = 0.0052) and Śląskie (1.9/10 000 live births, p < 0.0001). Furthermore, within the region of Dolnośląskie, we defined a clear prevalence of the isolated gastroschisis cluster (p = 0.023). We comprehensively examined demographic and socio-economic risk factors for abdominal wall defects in this area, and we found that these factors failed to account for the cluster. Conclusions: We identified a distinct prevalence cluster for isolated gastroschisis, although a precise reason for the disease clustering in this region remains unknown. Cluster identification enables more focused research aimed at identification of specific factors with teratogenic effects.

We detect a strong signal of increased prevalence of isolated cleft lip with or without cleft palate in a single region of Poland, the Dolnośląskie voivodeship. Furthermore, we demonstrate a statistically significant prevalence differences between the urban and rural areas within this region. Through our comprehensive spatiotemporal analysis, we precisely define the cluster of the highest risk that comprises the eastern part of this voivodeship.

We found fewer severe nasal complications but no statistically significant advantage in treatment success in infants assigned to Infant Flow nasal continuous positive airway pressure compared with those assigned to constant flow nasal continuous positive airway pressure treatment. Significant risk factors of treatment failure include small size, maturity, and severity of respiratory distress syndrome.