Kartagener's syndrome: a case report.

BACKGROUND: Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in Kartagener's syndrome. CASE PRESENTATION: A 24-year-old man from Gondar town, North-West Ethiopia, presented to University of Gondar Hospital with recurrent episodes of nasal congestion with itching and paranasal discomfort, and productive cough for more than a decade. Clinical and imaging findings revealed chronic sinusitis, bronchiectasis, dextrocardia, and situs inversus. He was treated with orally administered antibiotics, mucolytic, and chest physiotherapy. He was symptomatically better with the above therapy, and started on a long-term low-dose prophylactic antibiotic. CONCLUSIONS: Patients with Kartagener's syndrome exist in Ethiopia as cases of chronic recurrent sinopulmonary infections. As there is no easy, reliable non-invasive diagnostic test for Kartagener's syndrome and the correct diagnosis is often delayed by years, it may cause chronic respiratory problems with reduced quality of life. Genetic counseling and fertility issues should be addressed once Kartagener's syndrome is diagnosed.

Colecistectomía laparoscópica en situs inversus totalis / Laparoscopic cholecystectomy in situs inversus totalis

Situs inversus totalis es una anomalía congénita poco frecuente. Se caracteriza por la transposición de los órganos tóraco-abdominales en sentido sagital al brindar una imagen llamada en espejo. Reportamos paciente de 59 años con diagnóstico de litiasis vesicular y situs inversus totalis resuelto por colecistectomía videolaparoscópica, en el Hospital Universitario Comandante Manuel Fajardo de La Habana. El cuadro clínico tuvo seis meses de evolución, con dolor a tipo cólico en hipocondrio izquierdo acompañado de náuseas, que se relacionaban con la ingestión de alimentos colecistoquinéticos. Los exámenes de laboratorio estuvieron dentro de parámetros normales. La ecografía abdominal informó litiasis vesicular, así como, el situs inversus totalis que se confirmó con Rayos X de tórax. Su evolución posoperatoria, luego de un año, fue satisfactoria, la cual mostró la factibilidad de la técnica quirúrgica empleada(AU)

Situs inversus totalis (SIT) is a rare congenital anomaly characterized by the transposition of the thoracic-abdominal organs towards the sagittal direction, producing an image called in mirror. The case is presented of a 59-year-old female patient, with a diagnosis of vesicular lithiasis and situs inversus totalis for cholelithiasis, treated by laparoscopic cholecystectomy in Comandante Manuel Fajardo University Hospital of Havana. The patient's clinical picture had a natural history of 6 months, with left colic pain in the left hipocondrium, with nauseas, accentuated on ingestion of greasy meals. The laboratory test results showed normal parameters. X-rays of the abdomen confirmed vesicular cholestasis and situs inversus totalis. The patient's postoperative evolution after one year was satisfactory, showing the feasibility of the surgical technique used(AU)

Colecistectomía laparoscópica en situs inversus totalis / Laparoscopic cholecystectomy in situs inversus totalis

Situs inversus totalis es una anomalía congénita poco frecuente. Se caracteriza por la transposición de los órganos tóraco-abdominales en sentido sagital al brindar una imagen llamada en espejo. Reportamos paciente de 59 años con diagnóstico de litiasis vesicular y situs inversus totalis resuelto por colecistectomía videolaparoscópica, en el Hospital Universitario Comandante Manuel Fajardo de La Habana. El cuadro clínico tuvo seis meses de evolución, con dolor a tipo cólico en hipocondrio izquierdo acompañado de náuseas, que se relacionaban con la ingestión de alimentos colecistoquinéticos. Los exámenes de laboratorio estuvieron dentro de parámetros normales. La ecografía abdominal informó litiasis vesicular, así como, el situs inversus totalis que se confirmó con Rayos X de tórax. Su evolución posoperatoria, luego de un año, fue satisfactoria, la cual mostró la factibilidad de la técnica quirúrgica empleada(AU)

Situs inversus totalis (SIT) is a rare congenital anomaly characterized by the transposition of the thoracic-abdominal organs towards the sagittal direction, producing an image called in mirror. The case is presented of a 59-year-old female patient, with a diagnosis of vesicular lithiasis and situs inversus totalis for cholelithiasis, treated by laparoscopic cholecystectomy in Comandante Manuel Fajardo University Hospital of Havana. The patient's clinical picture had a natural history of 6 months, with left colic pain in the left hipocondrium, with nauseas, accentuated on ingestion of greasy meals. The laboratory test results showed normal parameters. X-rays of the abdomen confirmed vesicular cholestasis and situs inversus totalis. The patient's postoperative evolution after one year was satisfactory, showing the feasibility of the surgical technique used(AU)

A case of Kartagener syndrome with rhinolalia clausa.

Kartagener syndrome is an autosomal recessive genetic ciliary disorder comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. It's the one of primary ciliary dyskinesia disorders with manifestations present from childhood. Most patients of PCD have situs inversus. We present a case of 18 year-old women with recurrent lower and upper respiratory tracts infections, and rhinolalia clausa.

Perioperative implications and management of dextrocardia.

Dextrocardia, a term used to describe all varieties of developmental malformations resulting in the positioning of the heart in the right hemithorax, is linked to a number of highly significant cardiac disorders. Current estimates vary tremendously in the literature. Only about 10 % of patients with diagnosed dextroversion show no substantial cardiac pathology; however, the incidence of congenital heart defects associated with dextrocardia is close to 100 %. The majority of studies previously reported include dextrocardia associated with situs inversus and cases of Kartagener syndrome. There is complex embryology and pathogenesis that results in dextrocardia. Physical examinations of the heart, such as percussion and palpation during routine exams, are vitally important initial diagnostic instruments. X-ray, CT scan, echocardiography (ECHO), and MRI are all invaluable imaging modalities to confirm and classify the diagnosis of dextrocardia. In summary, heart malposition is a group of complex pathologic associations within the human body, rather than just a single congenital defect. Clinicians such as anesthesiologists have unique challenges managing patients with dextrocardia. An appreciation of associated pathogenesis, appropriate diagnosis, and management is paramount in ensuring the best outcome for these patients perioperatively.

Kartagener's syndrome: a classical case.

BACKGROUND: Recurrent lower respiratory tract infection (LRTI) is a very common problem we encounter in our clinical practice. Failure to recognize the specific cause of this condition may subject the patients to unnecessary and inappropriate treatment. CASE DETAILS: among the various causes of recurrent LRTI, the most frequent causes are abnormalities of general or local impairment of immune mechanism and abnormalities of cilia or mucus of respiratory tract. We report an adult case of recurrent upper and lower respiratory tract infections since childhood along with situs inversus totalis which was diagnosed as Kartagener's syndrome. He had all the classical clinical and radiological features of Kartagener's syndrome which is a rare inherited disorder which is seen in nearly half of the cases of primary cilliary dyskinesia (PCD). CONCLUSION: One should always keep in mind the possibilities of Kartagener's syndrome in patients presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure.

[Primary ciliary dyskinesia: a retrospective review of clinical and paraclinical data]. / Dyskinésie ciliaire primitive : revue rétrospective clinique et paraclinique.

INTRODUCTION: Primary ciliary dyskinesia (PCD) is an inherited disease responsible for a disruption of normal ciliary function. Its clinical presentation is usually in early childhood with pulmonary and otorhinolaryngologic symptoms. Early diagnosis is essential to avoid the development of bronchiectasis. The aim of the study was to retrospectively review the clinical features of children suspected to have PCD. RESULTS: A total of 89 children had a bronchoscopy to perform a biopsy analyzed by transmission electron microscopy (TEM) in the childrens' hospital of Rennes between 2000 and 2009. PCD was diagnosed in 17 children, excluded in 51 and results were uncertain in 21 children. Mean age at diagnosis was 6.5 years. In the PCD group, a history of neonatal respiratory distress was found in 40% of cases, 82% had had bronchopneumonia, 37% sinusitis, 82% recurrent otitis and 23% situs inversus. These subjects had defects in ciliary structure, 59% in the dynein arms, 35% in the central complex and 6% having both. Nasal nitric oxide production was consistent with the results of TEM in 16 cases: five PCD, 11 without PCD. In two cases, the results were discordant. CONCLUSION: This case series highlights the key clinical features of recurrent otitis, sinusitis, and situs inversus, especially when occurring in combination with bronchitic symptoms. Measures of nasal nitric oxide are useful for the diagnosis of PCD and in the case of high levels of NO, PCD is unlikely. Results may not be definitive and TEM analysis of biopsies is still indispensable to ensure the diagnosis and guide genetic counselling.

Gorlin-Goltz syndrome with situs inversus: a rare case report / Síndrome de Gorlin-Goltz com situs inversus: relato de um caso raro

OBJECTIVE: To review the literature and present a case of Gorlin´s syndrome with situs inversus. RESULTS AND DISCUSSION: Together with the major features, a great number of processes considered as minor features have also been described in the Gorlin´s syndrome. The latter includes numerous skeletal, dermatology related and neurological anomalies among others. In the present clinical case many criteria allowed a diagnosis of Gorlin´s syndrome, but for the first time this unique finding of situs inversus is seen with this syndrome. CONCLUSION: However, further research is needed to confirm the association between situs inversus and Gorlin´s syndrome.

OBJETIVO: Revisar a literatura e apresentar um caso de síndrome de Gorlin com situs inversus. RESULTADOS E DISCUSSÃO: Conjuntamente com os aspectos principais, um grande número de processos considerados menores têm sido descritos na síndrome de Gorlin. Entre outras, numerosas anomalias esqueletais, dermatológicas e neurológicas têm sido relatadas. No presente caso clínico, muitos critérios permitiram o diagnóstico da síndrome de Gorlin, porém, pela primeira vez relata-se a ocorrência deste achado único, o situs inversus. CONCLUSÃO: Entretanto, pesquisas adicionais são necessárias para confirmar a associação entre situs inversus e síndrome de Gorlin.

Nephronophthisis: disease mechanisms of a ciliopathy.

Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as "ciliopathies." The theory is based on the finding that all proteins mutated in cystic kidney diseases of humans or animal models are expressed in primary cilia or centrosomes of renal epithelial cells. Primary cilia are sensory organelles that connect mechanosensory, visual, and other stimuli to mechanisms of epithelial cell polarity and cell-cycle control. Mutations in NPHP genes cause defects in signaling mechanisms that involve the noncanonical Wnt signaling pathway and the sonic hedgehog signaling pathway, resulting in defects of planar cell polarity and tissue maintenance. The ciliary theory explains the multiple organ involvement in NPHP, which includes retinal degeneration, cerebellar hypoplasia, liver fibrosis, situs inversus, and mental retardation. Positional cloning of dozens of unknown genes that cause NPHP will elucidate further signaling mechanisms involved. Nephrocystins are highly conserved in evolution, thereby allowing the use of animal models to develop future therapeutic approaches.

Handedness and situs inversus in primary ciliary dyskinesia.

... The limbs on the right side are stronger. [The] cause may be ... [that] ... motion, and abilities of moving, are somewhat holpen from the liver, which lieth on the right side. (Sir Francis Bacon, Sylva sylvarum (1627).)Fifty per cent of people with primary ciliary dyskinesia (PCD) (also known as immotile cilia syndrome or Siewert-Kartagener syndrome) have situs inversus, which is thought to result from absent nodal ciliary rotation and failure of normal symmetry breaking. In a study of 88 people with PCD, only 15.2% of 46 individuals with situs inversus, and 14.3% of 42 individuals with situs solitus, were left handed. Because cerebral lateralization is therefore still present, the nodal cilia cannot be the primary mechanism responsible for symmetry breaking in the vertebrate body. Intriguingly, one behavioural lateralization, wearing a wrist-watch on the right wrist, did correlate with situs inversus.

Tos crónica, bronquiectasias y situs inversus: acerca de un caso de síndrome de Kartagener / Chronic cough, bronchiectasis and situs inversus: about a case with Kartagener syndrome

RESUMEN. Se presenta el caso clínico de una paciente femenina de 49 años, tosedora crónica, a quien se confirmó la presencia de bronquiectasias y situs inversus y que correspondó a un síndrome Kartagener. Este síndrome es un variante fenotípica del síndrome discinecia ciliar primaria o síndrome del ciclo inmóvil, uan enfermedad genética rara que causa inmovilidad ciliar primaria o síndrome del ciclo inmóvil, una enfermedad genética rara que causa inmovilidad cicliar. El curso clínico incluye manifestaciones secundarias al acúmulo de secreciones en vía aérea, bronquiectásias, sinusitis, otitis y esterilidad. Se revisa el tema de tos crónica, bronquiectasias y sindrome de Kartagener. Se discuten los hallazgos radiológicos encontrados

Heterotaxia as an outcome of maternal diabetes: an epidemiological study.

There are very few publications on the possible relationship between maternal diabetes and infants presenting heterotaxia-asymmetry defects. In mice, there is a relationship between maternal diabetes and heterotaxia, although this is influenced by the fetal genotype. An epidemiological analysis of heterotaxia-asymmetry in children born to diabetic mothers (diabetes mellitus or gestational diabetes) is presented here. The analysis is based in the case-control study of the ECEMC database. However, due to the very small sample size for each type of study of heterotaxia-asymmetry alterations, up to 10 control infants for each case were selected. Although the sample size is small, the results suggest that only maternal diabetes mellitus significantly increases the risk for transposition of great vessels (OR=61.87; CI:7.36-519.82), and transposition of viscera (OR=24.82; CI;1.84-335.44).

Situs inversus totalis.

The etiology of situs inversus totalis remains uncertain. However, the literature establishes that isolated situs inversus totalis is usually asymptomatic in the neonate. This case study illustrates the importance of physical assessment skills in identifying situs inversus totalis in the neonate. Current research may reveal the etiology of this rare but fascinating abnormality.

alpha(1)-Adrenergic stimulation perturbs the left-right asymmetric expression pattern of nodal during rat embryogenesis.

BACKGROUND: Normal development of the left/right (L/R) body axis leads to the characteristic sidedness of asymmetric body structures, e.g., the left-sided heart. Several genes are now known to be expressed with L/R asymmetry during embryogenesis, including nodal, a member of the transforming growth factor-beta (TGF-beta) family. Mutations or experimental treatments that affect L/R development, such as those that cause situs inversus (reversal of the sidedness of asymmetric body structures), have been shown to alter or abolish nodal's asymmetric expression. METHODS: In the present study, we examined the effects on nodal expression of alpha(1)-adrenergic stimulation, known to cause a 50% incidence of situs inversus in rat embryos grown in culture, using reverse transcription-polymerase chain reaction assay and whole-mount in situ hybridization assay. RESULTS: In embryos cultured with phenylephrine, an alpha(1)-adrenergic agonist, nodal's normal asymmetric expression only in the left lateral plate mesoderm was altered. In some treated embryos, nodal expression was detected in either the left or right lateral plate mesoderm. However, most treated embryos lacked lateral plate mesoderm expression. In addition, the embryos that did show expression were at a later stage than when nodal expression is normally found. CONCLUSIONS: Our results demonstrate that alpha(1)-adrenergic stimulation delays the onset and perturbs the normal asymmetric pattern of nodal expression. Either of these effects might contribute to situs inversus.

A locus for primary ciliary dyskinesia maps to chromosome 19q.

Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function associated with a range of ultrastructural abnormalities including absent dynein arms, absent radial spokes, and disturbed ciliary orientation. The molecular genetic basis is unknown. A genome scan was performed in five Arabic families. Using GENEHUNTER, a maximal multipoint lod score (HLOD) of 4.4 was obtained on chromosome 19q13.3-qter at alpha (proportion of linked families) = 0.7. A 15 cM critical region is defined by recombinations at D19S572 and D19S218. These data provide significant evidence for a PCD locus on chromosome 19q and confirm locus heterogeneity.

Asymmetry of cilia and of mice and men.

Evidence is given for the opinion that cilia in the early embryo, by their work, determine the laterality of the body; without ciliary work body laterality would be randomized. More exactly, monocilia in the primitive node are responsible for this determination. They have been described as being of the 9+0 type, but with dynein arms and with a gyrating movement. The orientation of the monocilia on the epithelium is of no importance but the direction of their gyration is, as may also be the shape of the node. The chirality of the cilia is thus reflected directly in the asymmetry of the body. The dynein arms go clockwise as seen from the base to tip and the ciliary rotation is in the same direction. The resulting waterflow is towards the left and so is the movement of the forming heart. In most subgroups of the immotile-cilia syndrome this mechanism does not work and equally many individuals will be born with situs inversus as with situs solitus. An exception is the immotile-cilia subgroup, named 'microtubule transposition', which is characterized by all cilia having a 9+0 structure throughout most of their length.