KARTAGENER'S SYNDROME

10 yrs old boy with recurrent respiratory infections

 

Axial CT sections of chest in lung window show dextrocardia with dense cystic bronchiectasis involving middle lobe and lingula. Multiple infiltrates in bilateral lower lobes (not shown here).

Coronal reformatted images showing the same findings.

Axial CT section through the upper abdomen showed inversion of abdominal organs also
suggestive of complete situs inversus.

KARTAGENER'S syndrome

Findings:

The chest radiograph demonstrates dextrocardia with the stomach bubble and aortic arch on the right side. The findings represent situs inversus totalis. The patient has marked peribronchial thickening and a focal area of atelectasis in the left lung. Close inspection of the lung markings demonstrated tubular lucencies indicating bronchiectasis in this patient with known KARTAGENER'S SYNDROME.

This syndrome consists of a classic triad of:

• Sinusitis
• Bronchiectasis
• Situs inversus totalis

Also known as:

• Ciliary dyskinesia
• Immotile cilia syndrome

Clinical manifestations:

• Chronic cough
• Recurrent respiratory infections
• Sinusitis
• Otitis media
• Reduced fertility in males

The clinical manifestations are directly related to abnormal ciliary structure and/or function. Furthermore, situs inversus totalis occurs in approximately half of patients with Kartagener's syndrome, with the remainder having normal situs. This implicates the role of ciliary function in the early positioning of internal organs in the developing fetus. Without normal ciliary functioning, there is random occurrence of normal and reversed situs. Therefore, although the classic triad includes situs inversus, the syndrome includes those patients with normal situs.

Differential diagnosis:

The presence of airway disease and recurrent pulmonary and sinus infections may resemble the clinical and radiographic appearances of cystic fibrosis. Also, immunodeficiency states may present in a similar manner. The correct diagnosis is usually first recognized by the presence of situs inversus in a patient with chronic respiratory symptoms, and can be confirmed by biopsy of nasal cilia.

 

CYSTIC HYGROMA WITH NON IMMUNE FETAL HYDROPS

14 WEEKS GESTATION FOR NT SCAN

Diffuse subcutaneous edema of fetal thorax and abdomen with mild bilateral pleural effusion

Large cystic fluid collection in the nape of neck extending to both sides with few internal septations and diffuse subcutaneous edema of fetal cranium

·        Nuchal cystic hygromas are characterized by single or multiple congenital cysts of the lymphatic system most commonly found within the soft tissues of the neck.

·        The frequency is one in 875 spontaneous abortions.

·        Nuchal cystic hygromas are the clinical consequence of a delay in  development or absence of the communications that normally develop between the jugular lymph sacs and the internal jugular veins at approximately 40 days gestation.

·        The obstructed jugular lymph sacs dilate along the paths of least resistance into the posterior and lateral cervical areas.

·        Late communication of the sacs with the internal jugular vein may be manifest by redundancy of the posterior nuchal skin, neck webbing, and elevation and anterior rotation of the ears.

·        Complete lymphatic obstruction may be associated with nonimmune fetal hydrops, which is frequently fatal.

·        About 78% of patients with cystic hygroma are chromosomally abnormal; 58% have a karyotype associated with Turner syndrome phenotype; while autosomal trisomies and various structural abnormalities made up the remaining 20%.

·        The most common associated structural malformations are cardiac abnormalities.

·        Even among the 22% of fetuses with normal chromosomes, various physical anomalies are present.

·        Other syndromes associated with cystic hygromas are Noonan syndrome (autosomal dominant), Pena-Shokeir syndrome, Down syndrome, Robert’s syndrome (autosomal recessive) and multiple pterigium syndrome (autosomalrecessive, X-linked).

Ultrasonographic findings

·        The fetus presents with large bilateral cystic areas, termed cystic hygromas develop within the skin in the posterolateral aspect of the neck.

·        They may grow so large that they lie adjacent to each other.

·        It then appears that there is a cystic mass arising from the back of the neck with one to three septa in the center.

·        The skin thickening is most pronounced in the upper torso and cranium.

·        Hydrops occurs in more severe cases with large pleural effusions, pericardial effusions and ascites.

·        Amniotic fluid is often reduced.

·        Placenta is normal or thickened with hydrops.

·        Differential diagnosis is encephalocele or meningocele (the mass is posterior and is a single mass. It is associated with a cranial defect) and unfused amniotic membrane.

Reference : Antenatal Diagnosis and Management of Nuchal Cystic Hygroma: A Case Report in the Yaounde Central Maternity, Cameroon; Clinics in Mother and Child Health; Vol. 8 (2011).