What is Stromme syndrome?

What is Stromme syndrome? Stromme syndrome is a very rare genetic condition. It affects multiple bodily systems and causes anomalies in the intestines, eyes, and skull.

It can also affect other areas of the body, such as the renal and cardiac systems.

Genetic mutations in the CENPF gene cause Stromme syndrome to occur. The CENPF gene is involved in DNA regulation and synthesis, so mutations to it can affect skeletal development.

Keep reading to learn more about Stromme syndrome, including its causes, symptoms, and outlook.

Definition 

Stromme syndrome is a genetic condition.

Infants with Stromme syndrome are born with an incomplete intestine, ocular anomalies, and, in most cases, a smaller-than-average skull.

Norwegian pediatrician Petter Strømme and his associates first identified the syndrome. They did so based on two sisters born with:

jejunal, or intestinal, atresia, which refers to a partial or complete absence of the membrane connecting the small intestines to the abdominal wall
ocular anomalies, which are problems with the eyes
cranial anomalies, which are problems with how the skull forms or fuses together

In 2007, clinical geneticist Yolanda van Bever and associates proposed the name “Stromme syndrome” for the condition affecting infants born with similar clinical symptoms.

Causes

Genetic mutation to the CENPF gene cause Stromme syndrome.

This gene codes for centromere protein F. The position of this protein suggests that it plays a role in chromosome segregation.

Chromosome segregation occurs when two sister chromatids migrate to opposite poles of the cell nucleus after separating from each other.

Symptoms

3 symptoms  characterize Stromme syndrome. These are intestinal atresia, ocular anomalies, and cranial anomalies.

The following sections will look at these in more detail.

Intestinal atresia

One of the main symptoms of Stromme syndrome is jejunal, or intestinal, atresia. Infants with Stromme syndrome are born with intestinal atresia, which refers to the incomplete formation of part of the small intestine.

Intestinal atresia, also known as apple peel syndrome, causes a section of the small intestine to twist around the main artery that sends blood to the colon. This can cause blockages to the intestine.

Ocular anomalies

Infants born with Stromme syndrome tend to have underdeveloped eyes and a variety of eye anomalies. These may include:

Sclerocornea: This is an eye abnormality wherein the cornea blends with the white outer layer of the eyeball, causing there to be no clear-cut boundary between them.
Microphthalmia: This is a condition wherein one or both of the eyes are unusually small.
Microcornea: This is a condition wherein one or both of the corneas are unusually small.
Ptosis: This refers to the drooping or falling of the upper eyelid.
Epicanthus: This refers to a fold of skin on the upper eyelid that covers the inner corner of the eye.

Cranial anomalies

Another common symptom of Stromme syndrome is the presence of cranial anomalies. Infants with Stromme syndrome are likely to have microcephaly .This is a condition that causes an infant to have a much smaller head than usual.

However, not all infants with Stromme syndrome have microcephaly. Some infants with this condition have a typical head circumference.

Other complications

One report states that some infants born with Stromme syndrome have accompanying issues with their renal and cardiac systems.

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. Continue Reading →

Fibroadenomas the benign breast tumors

Fibroadenomas are common benign (non-cancerous) breast tumors made up of both glandular tissue and stromal (connective) tissue. Fibroadenomas are most common in women in their 20s and 30s, but they can be found in women of any age. They tend to shrink after a woman goes through menopause

A fibroadenoma is usually felt as a lump in the breast which is smooth to the touch and moves easily under the skin.

Fibroadenomas are usually painless, but sometimes they may feel tender or even painful, particularly just before a period.

Most Fibroadenomas are about 1–3cm in size and are called simple Fibroadenomas. When looked at under a microscope, simple Fibroadenomas will look the same all over.

Simple Fibroadenomas do not increase the risk of developing breast cancer in the future.

Some Fibroadenomas are called complex fibroadenoma. When these are looked at under a microscope, some of the cells have different features.

Having a complex fibroadenoma can vary slightly increase the risk of developing breast cancer in the future.

Occasionally, a fibroadenoma can grow to more than 5cm and may be called a giant fibroadenoma. Those found in teenage girls may be called juvenile Fibroadenomas.

It’s not known what causes a fibroadenoma. It’s thought that it probably occurs because of increased sensitivity to the hormone estrogen. Or if the man hold and play with the breast very hard for long time and can injure the fiber tissue.

Breasts are made up of lobules (milk-producing glands) and ducts (tubes that carry milk to the nipple). These are surrounded by glandular, fibrous and fatty tissue. This tissue gives breasts their size and shape.

Fibroadenomas develop from a lobule. The glandular tissue and ducts grow over the lobule and form a solid lump.

Fibroadenomas are often easier to identify in younger women. If you’re in your early 20s or younger, your fibroadenoma may be diagnosed with a breast examination and ultrasound only. However, if there’s any uncertainty about the diagnosis, a core biopsy or FNA will be done. Continue Reading →

Fetal Skeletal dysplasia,

Skeletal dysplasias, also known as osteochondrodysplasias, constitute a group of approximately 450 disorders that affect both bone and cartilage. The newest (tenth version) “Nosology and Classification of Genetic Skeletal Disorders” comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes. Remarkably, pathogenic variants affecting 437 different genes have been found in 425/461 (92%) of these disorders. Many of these disorders result from new (de novo) dominant mutations, and for the autosomal recessive disorders, many occur in families with no history of a skeletal dysplasia.

The prevalence of skeletal dysplasias is estimated to be approximately 2.4 per 10,000 births. Due to high perinatal mortality, the overall prevalence in perinatal deaths is much higher at 9 per 1,000. Although the occurrence of each individual skeletal dysplasia may be rare, as a group they account for a significant number of newborns with congenital anomalies. The presence of a skeletal dysplasia is not always evident at the time of the fetal anatomical survey, and in particular, some non-lethal skeletal dysplasias may only become apparent in the third trimester.

The fetal skeleton develops relatively early, thus the suspicion of a skeletal dysplasia may be possible as early as the first trimester. The appendicular and axial skeleton undergo a programmed pattern of endochondral ossification, whereas the calvarium and portions of the clavicle and pubis ossify via membraneous ossification. Ossification occurs at relatively early gestational ages: the clavicle and mandible at 8 weeks, the appendicular skeleton, ilium, and scapula by 12 weeks, and the metacarpals and metatarsals by 12–16 weeks. The secondary ossification centers become visible later in gestation, beginning with the calcaneus at 20 weeks, the distal femoral epiphysis after 32 weeks, and the proximal tibial epiphysis after 37 weeks. Continue Reading →

Complete tear long head of biceps tendon

Based on the ultrasound findings and SonoSkills pathology checklist analysis I concluded: \
– Complete tear of the long head of the biceps tendon.
– The rotator interval is “empty”. No sign of the long head of the biceps tendon.
– The long head of the biceps tendon has partially retracted. It’s still located in the distal intertubercular groove, probably fixated or stabilized by the tendon’s vinculum (suspensory ligament).
– Minor degree of neovascularization.

The clinical examination findings of the orthopedic surgeon could be confirmed. Furthermore, the surgeon knows that there is a partial retraction of the long head of the biceps tendon, and that no other anatomical structures where involved. This information can help his clinical decision making. Continue Reading →

Supraspinatus full thickness tear

Based on the ultrasound findings and SonoSkills pathology checklist analysis I concluded: – Full thickness/ partial width tear supraspinatus tendon – Potentially other partial tears: articular sided near anatomical neck, and mid tendon. – Tendinopathy supraspinatus tendon – Mild sign of neovascularization – SASD bursa effusion – Primary impingement of the supraspinatus tendon and SASD bursa with the coracoacromial ligament during active abduction. Continue Reading →

Quality sonographer and speed

A sonographer asked the question about how to be fast in her job ? and she said

“It is the scanning part itself; it takes me too long to produce an image of good diagnostic quality (in my opinion)”.

This also can be true about many other technologists. Well it is have everything to do with all the points that you mentioned, the machine, the color and the scale you use, the cine lobe and the zoom, the annotation and the physics itself , that why I hate the word sonographer , we are not sono GRAPHER , WE ARE NOT PICTURE TAKER , like radiographer , mamographer, etc The word TECHNOLOGIST is more fit like MRI,CT technologist. Or we must use the word IST, like PHYSIOTHERAPIST, pharmacist, so we are SONOIST.

Forget the word SONOLOGIST as this is taken by the radiologists who have half of our skills as we are the true sonologists .So it is all about the machine and the speed of your critical thinking, don’t be panic sonographer. Do the best by doing the basic. Continue Reading →

Baker’s cysts

Steve Ramsey,PhD -Public Health MSc(hon) in Med Ultrasound

Baker’s cysts are not technically true cysts; they represent distention of the gastroc.-semimembr Bursa through accumulation of fluid, which communicates with the knee joint. Baker’s cysts are usually most prevalent in patients with preexisting intra-articular knee joint pathology such as arthritis (degenerative or inflammatory) or internal derangement (meniscal or anterior cruciate ligament tears, loose bodies, etc). Although Baker’s cysts are most frequently asymptomatic, they may cause posterior knee pain, joint stiffness, and reduced range of motion. Continue Reading →