Fetal Bowel Dilatation Associated With LCHAD Deficiency: A New Sonographic Finding

Abstract

A long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency constitutes a very rare autosomal recessive disease, affecting long fatty acids’ metabolism. In the prenatal period, it is difficult to suspect this diagnosis in the absence of family history, as there are no specific sonographic signs of this disease. A 32-year-old pregnant woman was receiving follow-up care, as she was a carrier for Duchenne muscular dystrophy (DMD). The fetus was female, and the pregnancy progressed normally until 29th week of gestation. At that time, the fetal bowel had noted dilatation with mild hyperechogenicity. Fetal surveillance was conducted with sequential sonograms. Labor was induced at 36 weeks, due to pre-eclampsia. The newborn presented with poor weight gain and hypoglycemic episodes. Neonatal screening revealed the diagnosis of an LCHAD deficiency. Prenatal diagnosis of LCHAD is usually performed by genetic testing when there is a family history. However, only a few sonographic signs have been described in association with this disease, such as fetal bowel hyperechogenicity or cardiomyopathy. This is the first case study to report a prenatal sonographic finding of bowel dilatation in a fetus with LCHAD deficiency, and one of the few to report fetal bowel hyperechogenicity.