Mild Cases
Stromme syndrome can vary in severity, with some cases being milder than others. For instance, in one reported case in 2002, a child was born with a relatively small head and an undersized jaw. Fortunately, doctors were able to identify and address specific complications such as apple-peel intestinal atresia and colon problems through surgery. Although the infant had white corneas, further examinations revealed that the retina and optic nerves were normal. Additionally, a brain MRI conducted at two months showed no abnormalities in brain myelination, and a CT scan ruled out the presence of calcifications. Remarkably, by the age of four months, the boy exhibited a normal neurological exam, with the only minor concern being slightly increased muscle tone.
Diagnosis
The diagnosis of Stromme syndrome can be made by doctors through a clinical examination. However, imaging studies are necessary to confirm the diagnosis and determine if surgical correction of apple-peel intestinal atresia is required for the affected infant. To screen for suspected Stromme syndrome, healthcare professionals may recommend a series of tests including a brain MRI, abdominal ultrasound, and echocardiogram. In cases where congenital defects are detected during a fetal ultrasound, a fetal MRI may be requested by the doctor. It is important to note that a fetal MRI carries some risks for both the fetus and the mother.