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.

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.

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.