Unusual prenatal MRI detects rare, oft-missed genetic disease

(Media-Newswire.com) - In a case believed to be a United States first, the radiology team at Lucile Packard Children’s Hospital has used prenatal magnetic resonance imaging to detect an often-misdiagnosed genetic disease.

The disorder, congenital chloride diarrhea, can cause severe dehydration and serious metabolic disturbances in newborns if not treated quickly.

“This is a disease where early diagnosis is the key to a good outcome,” said Richard Barth, MD, the physician who recognized the unusual case. Congenital chloride diarrhea is so rare, with only about 250 total cases reported worldwide, that infants with the disease are often erroneously treated for other diarrhea-causing ailments. “If the patient’s fortunate, you could stumble onto this diagnosis,” said Barth, the chief radiologist at Packard Children’s and a professor of pediatric radiology at the School of Medicine. The case was the first instance of CCD Barth had ever seen.

It is one of only four known cases of CCD diagnosis ever made via prenatal MRI. A scientific report on the four cases, including Barth’s case and three from France, was published online Dec. 9 in the journal Ultrasound in Obstetrics & Gynecology. The report is a collaboration between Barth and a team of French scientists in Marseilles.

source: Media Newswire