Stromme syndrome is an inherited genetic condition, estimated to affect fewer than one in a million births. It was first described in 1993 by Norwegian pediatrician Petter Strømme. The syndrome is defined by a distinct combination of physical abnormalities that are present at birth, primarily involving the intestines, eyes, and skull. While some infants experience severe, life-threatening complications, others have a life expectancy that is not atypical.
Key Characteristics and Symptoms
Stromme syndrome is recognized by a trio of features affecting a newborn’s intestines, eyes, and head size. The severity and specific presentation of these symptoms can vary significantly among individuals. Not every person with the syndrome will exhibit all characteristics, and the degree to which they are affected can differ, even within the same family.
A primary feature is “apple-peel” intestinal atresia, an incomplete formation of the small intestine’s jejunum section. The underdeveloped portion of the intestine is twisted around the main artery that supplies blood to the colon, creating a blockage. This obstruction prevents the passage of food and waste, causing vomiting, abdominal swelling, and an inability to feed in newborns.
Ocular anomalies are also common. Infants may be born with microphthalmia, where one or both eyes are abnormally small, or microcornea, where the cornea is smaller than usual. Some individuals have sclerocornea, where the cornea is opaque, or develop cataracts. These structural differences can affect the development of vision.
Microcephaly, a smaller-than-normal head circumference, is also a feature. The reduced head size results from the brain not developing to its expected size during pregnancy. This is associated with developmental delays, though the cognitive impact ranges from mild to significant. Some individuals with Stromme syndrome, however, have a typical head size.
Genetic Origins
Stromme syndrome is caused by mutations in the CENPF gene. This gene provides instructions for making centromere protein F, which is involved in cell division. The protein plays a part in chromosome segregation, which is the proper separation of chromosomes when cells divide to create new cells.
Disruptions in the CENPF gene interfere with skeletal development and other processes. The inheritance pattern is autosomal recessive, meaning a child must inherit two copies of the mutated gene—one from each parent—to have the condition.
Parents are often carriers of a single copy of the mutated gene but show no symptoms. When both parents are carriers, there is a 25% chance with each pregnancy that their child will be affected. This explains how the condition can appear in a family with no prior history.
Diagnosis and Testing
Diagnosis often begins before birth during routine prenatal ultrasounds. Indicators like a visible intestinal obstruction or microcephaly can raise suspicion, leading to further investigation such as a fetal MRI for more detailed imaging.
After birth, a physical examination can reveal the syndrome’s characteristic features. The presence of intestinal atresia, eye abnormalities, and microcephaly strongly points toward a diagnosis. Doctors will assess these features and observe related symptoms like feeding difficulties.
While physical symptoms are strong indicators, a definitive diagnosis requires genetic testing. This analysis involves sequencing the CENPF gene to identify the specific mutations. Genetic confirmation provides families with a conclusive answer and helps in understanding the genetic basis of the syndrome.
Management and Care
There is no cure for Stromme syndrome, so treatment focuses on managing symptoms and improving quality of life. This requires a coordinated effort from a multidisciplinary team of medical specialists.
Immediate surgical intervention is needed to correct the intestinal atresia. This surgery is performed soon after birth to repair the blockage and reconstruct the small intestine, allowing the infant to feed and digest food properly. The operation is effective in resolving the intestinal obstruction.
Ophthalmological care is also part of management. Regular monitoring by an eye specialist is needed to address the ocular anomalies. Treatment may involve corrective lenses to maximize vision or, in some cases, surgical procedures. For instance, a corneal transplant may be considered for conditions like sclerocornea to improve sight.
Due to microcephaly and associated developmental delays, early intervention services are a large part of long-term care. A comprehensive plan includes physical therapy for motor skills, occupational therapy for daily activities, and speech therapy for communication. These therapies help individuals reach their developmental potential.