Background. Refeeding Syndrome (RFS) is a well-known group of symptoms which occur after the introduction of enteral or parenteral nutrition in undernourished patients. Intrauterine growth restriction (IUGR) is the equivalent of postnatal RFS following the beginning of feeding. The aggressive parenteral nutrition of neonates with very low birth weight (VLBW) resulting from the termination of intrauterine transplacental nutrition is a source of biochemical disorders.
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).
Renal vein thrombosis (RVT) in neonates is a rare condition of low mortality but significant morbidity due to renal impairment.We report the case of a male term newborn with left RVT and elevated serum factor VIII (FVIII).The main symptoms of the patient and the important clinical findings: prompt diagnosis of RVT was possible because the classic clinical presentation of macroscopic hematuria, thrombocytopenia, and palpable flank mass were present in this newborn infant.The main diagnoses: finally, the reason of RVT was established when the infant was 3 months of age: the increased level of FVIII was confirmed. We discuss the diagnosis, therapy, and outcome of the patient and compare with the literature.Therapeutics interventions: however, despite anticoagulant therapy the left kidney developed areas of scarring and then atrophy.Conclusions and outcomes: Prothrombotic defects should be considered in all patients with perinatal RVT. Elevated factor VIII as a reason of RVT in neonatal period is particularly rare. Given a poor renal outcome in children associated with elevated levels of factor VIII, consideration could be given to more aggressive antithrombotic therapy in such cases.
Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutations, the novel c.1816_1820+21delinsCT and possibly recurrent c.1431-12G>A. A detailed pathogenesis of Netherton Syndrome, on the basis of literature review, is discussed in the view of current knowledge about the LEKT1 molecular processing and activity.
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