Have you ever heard of Stromme Syndrome? It is a very rare genetic condition, autosomal (appearing on non-sex chromosomes) and recessive (which implies that both genes in a pair must be mutated to produce the disease).
This syndrome mainly affects the intestine, but also many other structures and systems (cardiac, skeletal, neurological…).
In this article we will learn about its most relevant characteristics, its symptoms, causes and possible treatments to apply.
Stromme syndrome (in English, Strømme syndrome) is an autosomal recessive genetic syndrome, considered rare, that mainly affects the intestine It produces intestinal atresia, which leads to certain congenital malformations in the structure of the intestine (such as the lack of part of it), which causes intestinal obstruction.
In the case of Stromme Syndrome, intestinal atresia is characterized by being “apple peel,” which means that the remaining intestine twists around its main artery
In addition to these malformations in the intestine, two other key symptoms also appear in Stromme Syndrome: eye abnormalities and microcephaly
Let us remember that microcephaly is a medical condition that implies that the brain does not develop properly in the baby, so the head is smaller than normal; Microcephaly can appear at birth, or develop during the first years of life.
In Stromme Syndrome, the front third of the eye (also called the anterior segment or inner cavity), which encompasses certain structures of the eye (cornea, iris, ciliary body and lens) is underdeveloped. Additionally, the syndrome is characterized by a moderate delay in development.
These are the most typical symptoms of Stromme Syndrome, although others, a little less frequent, also appear. One of them is atrial septal defect (also called ASD), which consists of a congenital heart disease where blood flows between the atria of the heart
Furthermore, in people with Stromme Syndrome, muscle tone is increased, and skeletal abnormalities also often appear. Sometimes other conditions appear, such as intellectual disability, poor speech, poor motor function or other symptoms.
Prevalence
Stromme Syndrome It is a very rare condition, although its prevalence data are still unknown. It is known, however, that in 2017 approximately 13 people were diagnosed with it.
Origin
They were Petter Strømme, a Norwegian pediatrician, along with his team who identified the symptoms of Stromme Syndrome for the first time, in 1993 (as we see, its name derives from its “discoverer”).
Strømme and his collaborators observed the symptoms of the syndrome in two brothers, although it was not until 2008 that the syndrome was first named, in a study with another patient. Later, in 2015, the pathogenic mutations produced in the CENPF gene, which characterize Stromme Syndrome, could be precisely identified.
Just one year after that date, in 2016, it was discovered, in the brothers who had manifested the symptoms in 1993, mutations in the CENPF gene (in both copies of the gene), through a genetic study. This is how these mutations in the gene could be identified as causing Stromme Syndrome.
Symptoms
We have seen in a generic way what the most characteristic symptoms of Stromme Syndrome are; Let’s see them now one by one and in more detail.
The intestinal atresia that characterizes Stromme Syndrome consists of the absence of certain parts of the intestine, or the narrowness of them This implies an intestinal obstruction, which requires an operation.
2. Eye abnormalities
The eyes are usually smaller than normal, in addition to being underdeveloped (In addition, this is usually seen more in one eye than the other).
The alterations that may appear are: coloboma in the iris (a kind of hole), cataracts, sclerocornea (the cornea mixes with the white of the eye), leukoma (opacity of the cornea), microcornea (small cornea)…
3. Microcephaly
As we have already seen, microcephaly implies that the brain develops abnormally, which implies a smaller head than usual Associated with it may also appear intellectual disability, seizures, dwarfism, motor disorders…
4. Moderate developmental delay
Generally, the delay in development is usually moderate to severe, although there are cases where it is mild.
5. Atrial septal defect
The heart can also be affected in Stromme Syndrome, through a congenital heart disease called atrial septal defect, which involves blood flowing between the atria of the heart.
6. Increased muscle tone
Also called hypertonia increased muscle tone is another sign of Stromme Syndrome.
7. Skeletal anomalies
The skeletal system is also altered through various anomalies, such as: hip dysplasia (which may cause dislocation), metopic craniosynostosis, flattened vertebrae malformations in the chest wall (called sternal cleft), etc.
8. Physical characteristics (phenotype)
On a physical level (that is, in terms of phenotype), people with Stromme Syndrome They are usually short people, with large, low ears, a large mouth and a small jaw thin or sparse hair and epicanthic folds (which are folds of the skin of the upper eyelid, which cover the inner corner of the eye).
As we have seen, Stromme Syndrome consists of a genetic condition. It is caused by a series of mutations in both copies of a gene called CENPF; This gene encodes the centromere protein F, which is involved in cell division processes.
On the other hand, the CENPF gene is linked to cell division, migration and differentiation processes What happens when this gene is mutated (mutations appear in it)? That cell division is slower, and in addition, certain processes of embryonic development are interrupted or incomplete.
How is Stromme Syndrome diagnosed? Generally, a clinical diagnosis is made, that is, based on the symptoms, although logically genetic tests are those that will confirm the diagnosis, in addition to providing much more complete information.
Treatment
Regarding the treatment of Stromme Syndrome, it focuses above all on the symptoms (each of them will need their specific treatment). At the level of the intestine, and To treat intestinal atresia, what is done is to correct the malformation surgically usually in childhood.
Specifically, a surgical anastomosis is performed, a technique used to add a new connection between two structures in the body that carry fluid (in this case, the intestines).
Forecast
Regarding the prognosis of this syndrome, it is still unclear. Most people with Stromme Syndrome survive birth and childhood although there are a portion of cases (a minority) that are more serious and do not survive (or die before birth, or shortly after).
