Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.

Fumarase deficiency (FD) is a rare and severe autosomal disorder, caused by inactivity of the enzyme fumarase, due to biallelic mutations of the fumarase hydratase () gene. Several pathogenic mutations have been published. The article describes an infant with failure to thrive, microcephaly, axial hypotonia, and developmental retardation with increased excretion of fumarate, no activity of fumarase and a homozygous mutation of the gene, which was until recently only known as a variant of unknown significance.

[A neonate with soft tissue protruding through the umbilicus].

A 6-week-old neonate presented with soft tissue protruding through the umbilicus due to a persisting ductus omphalo-entericus. This remnant was surgically removed the next day.

Pulmonary function impairment after trachea-esophageal fistula: a minor role for gastro-esophageal reflux disease.

Background: Long-term impairment of pulmonary function in trachea-esophageal fistula (TEF) patients is, at least in part, commonly ascribed to gastro-esophageal reflux disease (GERD). The objective of this study was to examine the independent effects of the underlying condition and GERD on cardiopulmonary function.

Methods: Cardiopulmonary function of TEF patients, who had (severe) GERD (s-GERD) requiring antireflux surgery (TEF + GERD, n = 11) and TEF patients who did not have s-GERD (group TEF-GERD, n = 20) were compared with control patients who had isolated s-GERD requiring antireflux surgery (group GERD, n = 13).

Congenital diaphragmatic hernia: long-term risk of gastroesophageal reflux disease.

Objectives: Gastroesophageal reflux disease (GERD) is a well-recognized consequence of congenital diaphragmatic hernia (CDH). Results of studies examining predictive factors for early and late GERD are inconclusive. The aim of this study was to assess the incidence of early (<2 years) and late GERD (≥6 years) following CDH repair and to identify predictive variables.

Health-related quality of life and its determinants in children and adolescents born with oesophageal atresia.

Aim: Following surgical correction in the neonatal period, patients born with oesophageal atresia have significant co-morbidity, particularly in childhood. This study evaluates health-related quality of life and its determinants such as concomitant anomalies and the presence of respiratory and/or gastro-intestinal symptoms 6-18 years after repair of oesophageal atresia.

Methods: Parents of 24 patients with oesophageal atresia completed the child health questionnaire for parents and 37 patients completed the child form.

Psychological outcome and quality of life in children born with congenital diaphragmatic hernia.

Objective: To assess psychological and social functioning and health related quality of life and its early determinants in children born with congenital diaphragmatic hernia (CDH).

Design: Cross-sectional follow-up study.

Setting: Outpatient clinic of a tertiary care hospital.

Pulmonary function and exercise capacity in survivors of congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is associated with pulmonary hypoplasia and pulmonary hypertension. The objective of this study was to assess pulmonary function and exercise capacity and its early determinants in children and adolescents born with high-risk CDH (CDH-associated respiratory distress within the first 24 h) and to explore the relationship of these findings with CDH severity. Of 159 patients born with high-risk CDH, 84 survived.

The long-term follow-up of patients with a congenital diaphragmatic hernia: a broad spectrum of morbidity.

Congenital diaphragmatic hernia (CDH) is a life-threatening anomaly with a mortality rate of approximately 40-50%, depending on case selection. It has been suggested that new therapeutic modalities such as nitric oxide (NO), high frequency oxygenation (HFO) and extracorporal membrane oxygenation (ECMO) might decrease mortality associated with pulmonary hypertension and the sequelae of artificial ventilation. When these new therapies indeed prove to be beneficial, a larger number of children with severe forms of CDH might survive, resulting in an increase of CDH-associated complications and/or consequences.

Pulmonary function and exercise testing in adult survivors of congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is accompanied by pulmonary hypoplasia and structural abnormalities of the pulmonary vascular bed. It is unknown whether pulmonary function, exercise capacity, and gas exchange during exercise are impaired in adult CDH survivors. The objective of this study was to assess the long-term pulmonary function, exercise capacity, and gas exchange during exercise and relate these findings with quality of life.

[Diagnostic image (249). An infant with a swollen red toe].

A 4-month-old male infant had a red and swollen left fourth toe due to strangulation by a hair.

[Inspiratory stridor in a child with a retropharyngeal abscess instead of the normally expected subglottic laryngitis].

A 6-month-old girl presented with fever, coughing, inspiratory stridor and neck swelling. She was admitted for observation under the suspicion of spasmodic croup combined with a lymphadenitis colli. However, a rapidly progressive respiratory insufficiency developed which was found to be due to a retropharyngeal abscess.

Late presentation of a duodenal web in a patient with situs inversus and apple peel jejunal atresia.

A 16-year-old girl presented with signs of proximal intestinal obstruction. In the neonatal period, surgical correction of an apple peel atresia had been performed, and she also had a situs inversus abdominalis. Revision of the anastomosis had been done when she was 3 years old.

[Diagnostic image (122). A boy with serious rectal bleeding. Meckel's diverticulum].

An 11-year-old boy presenting with serious rectal bleeding had a negative Meckel scintigraphy. On a barium small bowel followthrough, a small accumulation of contrast was seen outside the contour of the ileum, caused by a Meckel's diverticulum after all.