Strømme syndrome

Overview

Strømme syndrome is a very rare genetic disorder characterized by a combination of congenital eye abnormalities, intestinal atresia (blockage or absence of a portion of the intestine), and distinctive craniofacial and developmental features. It is a complex multisystem disorder that typically presents in infancy with serious gastrointestinal and ocular issues requiring prompt medical attention.

First described by Strømme et al., this syndrome involves significant morbidity due to its effects on multiple organ systems. Due to its rarity, only a limited number of cases have been reported worldwide.

Causes

Strømme syndrome is caused by mutations in the CENPF gene, which encodes centromere protein F, essential for proper cell division and chromosome segregation during mitosis. Defects in this gene disrupt normal cellular proliferation and development, leading to the diverse clinical manifestations of the syndrome.

The disorder is inherited in an autosomal recessive manner, meaning an affected individual inherits two mutated copies of the gene, one from each parent. Carrier parents typically do not show symptoms.

Symptoms

The clinical features of Strømme syndrome usually include:

• Intestinal atresia: Often affecting the duodenum or jejunum, causing intestinal obstruction shortly after birth.

• Ocular abnormalities: Including microphthalmia (small eyes), coloboma (missing tissue in the eye structures), and cataracts.

• Craniofacial dysmorphism: Such as microcephaly, broad nasal bridge, and other facial anomalies.

• Growth retardation: Prenatal and postnatal growth delays are common.

• Developmental delay: Intellectual disability and motor developmental delays are frequently observed.

• Other possible features: Skeletal anomalies, hearing impairment, and cardiac defects may also be present.

Diagnosis

Diagnosis is based on clinical findings, imaging, and genetic testing:

• Clinical examination: Identification of intestinal obstruction, eye anomalies, and characteristic facial features.

• Imaging studies: Abdominal ultrasound or contrast studies to identify intestinal atresia; ocular imaging to assess eye defects.

• Genetic testing: Molecular analysis confirming biallelic mutations in the CENPF gene.

• Differential diagnosis: Includes other syndromes with microphthalmia and intestinal atresia, such as CHARGE syndrome or Feingold syndrome.

Treatment

Treatment of Strømme syndrome is multidisciplinary and symptomatic:

• Surgical intervention: Early correction of intestinal atresia is critical to restore bowel continuity and function.

• Ophthalmologic management: Treatment of eye anomalies including cataract surgery or visual aids as appropriate.

• Developmental support: Physical, occupational, and speech therapy to address developmental delays.

• Supportive care: Management of feeding difficulties, growth monitoring, and treatment of associated medical issues.

• Genetic counseling: For families to understand inheritance and recurrence risks.

Prognosis

The prognosis of Strømme syndrome varies depending on the severity of intestinal and ocular involvement and the presence of other systemic complications. Early surgical treatment of intestinal atresia improves survival chances, but developmental disabilities may persist.

Long-term outcomes depend on the extent of organ involvement and the effectiveness of supportive therapies. Due to the complexity of the syndrome, ongoing multidisciplinary care is essential to optimize growth, development, and quality of life.