Stromme syndrome: symptoms, causes and treatments

Have you ever heard of Stromme syndrome? It is a very rare genetic disease, autosomal (occurring on non-sex chromosomes) and recessive (implying that the two 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 know its most relevant characteristics, symptoms, causes and possible treatments to apply.

    What is Stromme syndrome?

    Strøme syndrome (Strømme syndrome) is an autosomal recessive genetic syndrome, considered rare, which mainly affects the intestine. It produces intestinal atresia, which results in certain birth defects in the structure of the intestine (such as the absence of a part of itself), which leads to intestinal obstruction.

    In Stromme syndrome, intestinal atresia is characterized by an “apple skin”, which means that the remaining intestine twists around its main artery.

    In addition to these bowel malformations, two other key symptoms also appear in Stromme syndrome: eye abnormalities and microcephaly.

    Remember that microcephaly is a medical condition that involves the brain not developing properly in the baby, so the head is smaller than normal; microcephaly can start at birth or develop in the first few years of life.

    In Stromme syndrome, the frontal third of the eye (also called the anterior segment or internal cavity), which encompasses certain structures of the eye (cornea, iris, ciliary body, and lens) is underdeveloped. In addition, the syndrome is characterized by moderate developmental delay.

    These are the most typical symptoms of Stromme syndrome, although others, somewhat less common, appear as well. One of them is interatrial communication (also called ASD), which consists of congenital heart disease where blood circulates between the atria of the heart.

    In addition, in people with Stromme syndrome, muscle tone is increased and skeletal abnormalities also appear. Sometimes other conditions appear, such as intellectual disability, poor speech, poor motor function or other symptoms.

    prevalence

    Stromme syndrome this is a very rare condition, Although their prevalence data is still unknown. However, we know that in 2017, around 13 people received the same diagnosis.

    origin

    It was Petter Strømme, a Norwegian pediatrician, alongside his team, Those who identified the first symptoms of Stromme syndrome in 1993 (as we see, its name derives from its “discoverer”).

    Strømme and his colleagues observed symptoms of the syndrome in two siblings, although it was not until 2008 that the syndrome was first named, in a study with another patient. Later, in 2015, it was possible to accurately identify the pathogenic mutations produced in the CENPF gene, which characterize Stromme syndrome.

    Only a year later, in 2016, it was discovered, in siblings who exhibited symptoms in 1993, CENPF gene mutations (In both copies of the gene), thanks to a genetic study. This is how these gene mutations could be identified as the causes of Stromme syndrome.

      symptoms

      We have seen generically which are the most characteristic symptoms of Stromme syndrome; Now let’s take a look at them one by one and in more detail.

      1. Intestinal atresia

      The intestinal atresia that characterizes Stromme syndrome consists of the absence of certain parts of the intestine, or the narrowness of the same. It involves intestinal obstruction, which requires surgery.

      2. Eye abnormalities

      The eyes are generally smaller than normal, in addition to being underdeveloped (Also, this is usually seen more in one eye than the other).

      The alterations that may appear are: coloboma in the iris (kind of hole), cataracts, sclerocornea (the cornea mixes with the white of the eye), leucoma (opacity of the cornea), microcornea (small cornea). ..

      3. Microcephaly

      As we have seen, microcephaly involves the abnormal development of the brain, which it does a head smaller than usual. Associated with this can also appear an intellectual disability, convulsions, dwarfism, motor disorders …

      4. Moderate developmental delay

      Developmental delay is usually moderate to severe, although there are cases where it is mild.

      5. Interatrial communication

      The heart can also be affected in Stromme syndrome, by a congenital heart disease called interatrial communication, which involves blood flow between the atria of the heart.

      6. Increased muscle tone

      Also called hypertensionAnother sign of Stromme syndrome is increased muscle tone.

      7. Skeletal abnormalities

      The skeletal system is also altered by various abnormalities, such as: hip dysplasia (which can cause dislocation), metopic craniosynostosis, flattened vertebrae, Malformations of the chest wall (called a sternal fissure), etc.

      8. Physical characteristics (phenotype)

      At the physical level (that is, in terms of phenotype), people with Stromme syndrome they are usually short people, with big low ears, a big mouth and a small jaw, The fine or sparse hair and with epicánticos folds (that are folds of the skin of the upper eyelid, that cause that the inner corner of the eye is covered).

      the causes

      As we have seen, Stromme syndrome consists of a genetic disease. It is caused by a series of mutations in both copies of a gene called CENPF; this gene codes for the centromere protein F, which is involved in cell division processes.

      On another side, the CENPF gene is linked to the processes of cell division, migration and differentiation. What happens when this gene is mutated (mutations appear in it)? This cell division is slower and, moreover, certain processes of embryonic development are interrupted or incomplete.

      How is Stromme syndrome diagnosed? Usually, a clinical diagnosis is made, that is, based on symptoms, although logically it is the genetic tests that will confirm the diagnosis, in addition to providing much more complete information.

      treatment

      As for the treatment of Stromme syndrome, it mainly focuses on the symptoms (each of them will need its specific treatment). At the level of the intestine, I to treat intestinal atresia, it is a question of surgically correcting the malformation, Usually in childhood.

      Specifically, a surgical anastomosis is performed, a technique used to incorporate a new connection between two bodily structures that carry fluids (in this case, the intestines).

      Forecast

      As for the prognosis of this syndrome, it is still not clear. Most people with Stromme syndrome survive birth and childhood, Although there are some cases (a minority), which are more serious and do not survive (or die before birth, or soon after).

      Bibliographical references:

      • Dorum, BA, Şambel, IT, Özkan, H., Kırıştıoğlu, I., Köksal, N. (2017). Stromme syndrome: new clinical features. APSP Journal of Case Reports. 8 (2): 14.
      • Filges, I., Bruder, E., Brandal, K., Meier, S., Undlien, DE, Waage, TR, Hoesli, I., Schubach, M., de Beer, T., Sheng, I., Hoeller , S., Schulzke, S., Rosby, O., Miny, P., Tercanli, S., Oppedal, T., Meyer, P., Selmer, KK, Stromme, P. (2016). Stromme syndrome is a ciliary disease caused by mutations in CENPF. Buzzing. Mutat, 37: 359-363.
      • Filges, I., Stromme, P. (2019). CUGC for Stromme syndrome and CENPF-related disorders. European Journal of Human Genetics: 1-5.
      • Slee, J., Goldblatt, J. (1996). Further evidence of “apple skin” intestinal atresia syndrome, eye abnormalities and microcephaly. Clin. Geneta, 50: 260-262.
      • Strømme, P., Dahl, E., Flage, T., Stene-Johansen, H. (1993). Intestinal atresia of apple skin in siblings with eye abnormalities and microcephaly. Clinical genetics. 44 (4): 208-210.

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