Stromme syndrome diagnosis

Healthcare professionals may diagnose Stromme syndrome by observing the infant’s symptoms. However, performing genetic testing can provide full confirmation of the presence of Stromme syndrome.

Sometimes, it is possible to diagnose intestinal atresia before birth. Healthcare professionals can do this during a prenatal ultrasound or fetal MRI scan.

They can also make a diagnosis after birth if the common symptoms of intestinal atresia are present. These symptoms include:

• abdominal swelling
• absence of bowel movements
• failure to thrive
• feeding difficulties
• vomiting bile

Healthcare professionals can also observe any cranial and ocular anomalies via an ultrasound or MRI scan before birth.

Outlook

In some cases, Stromme syndrome can be fatal in early life. However, some infants have a good general condition.

It can be helpful if a healthcare professional diagnoses intestinal atresia before birth and carries out the treatment quickly once the infant is born. This can reduce the risk of complications.

The treatment for intestinal atresia is surgery.

Total parenteral nutrition (TPN) is often necessary for a period of time after the procedure. In TPN, infants take on their required nutrients intravenously, which bypasses the usual process of eating and digestion.

This is only temporary and will only be in place until the infant’s intestine begins to function correctly.

Summary

Stromme syndrome is a very rare genetic condition that affects infants.

It is characterized by three main symptoms: intestinal atresia, ocular anomalies, and cranial anomalies. However, cranial anomalies are not present in all infants with Stromme syndrome.

Surgery is necessary for treating intestinal atresia.

Stromme syndrome can be fatal for newborns. However, some have a good general condition.

Experts first identified Stromme syndrome in 1993, so there has been little research into the effects of the condition later in life.