scholarly journals Severe haemoptysis in a 5 year old child with Kartagener’s syndrome: case report

2020 ◽  
Vol 7 (2) ◽  
pp. 462
Author(s):  
Mohinish S. ◽  
Mallesh K. ◽  
Prashanth H. K. ◽  
Ravichandra K. R.
Keyword(s):  
Case Report ◽  
Male Infertility ◽  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Rare Autosomal Recessive Disorder ◽  
Kartagener's Syndrome ◽  
Glue Ear ◽  
Ciliary Dyskinesia

Kartagener`s syndrome, a rare autosomal recessive disorder is a type of Primary Ciliary Dyskinesia (PCD) associated situs inversus, bronchiectasis, sinusitis and male infertility. We present a case of a 5-year-old girl who came with features of bilateral glue ear, recurrent sinusitis, recurrent hemoptysis and dextrocardia. She was diagnosed to have Kartagener`s syndrome and was evaluated for recurrent hemoptysis.

Kartagener’s Syndrome in a Dachshund Dog

2002 ◽  
Vol 38 (1) ◽  
pp. 45-49 ◽  
Author(s):  
Julie A. Neil ◽  
Sherman O. Canapp ◽  
Cristi R. Cook ◽  
Jimmy C. Lattimer
Keyword(s):  
Case Report ◽  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Signs ◽  
Kartagener's Syndrome ◽  
Congenital Condition ◽  
Ciliary Dyskinesia

Kartagener’s syndrome (KS) is a rare, congenital condition characterized by situs inversus, rhinosinusitis, and bronchiectasis. An underlying ciliary dysfunction (e.g., immotility or dyskinetic beating) produces most of the clinical signs seen in affected animals. This case report reviews the history, clinical signs, and diagnosis of KS in a male, long-haired dachshund. This is the first known report of KS, and thus primary ciliary dyskinesia, in this breed of dog.

scholarly journals Kartagener Syndrome: A Rare Genetic Disorder

2009 ◽  
Vol 48 (173) ◽  
Author(s):  
Kunjan Shakya
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Kartagener Syndrome ◽  
Irreversible Damage ◽  
History Of ◽  
Ciliary Dyskinesia

Kartagener Syndrome is a rare autosomal recessive disorder consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. It is the subset of disorder called primary ciliary dyskinesia in which the cilia have abnormal structure and/or function resulting in multisystem diseases of various severity. Clinical manifestations include lifelong, chronic upper and lower respiratory tract diseases secondary to ineffective mucociliary clearance. Early diagnosis and management of chest infections can prevent irreversible damage to lungs and prevent potential lifelong complications. This case report is on a patient who presented with long standing history of sinusitis, bronchiectasis and on examination situs inversus with dextrocardia.Key Words:bronchiectasis, dextrocardia, kartagener syndrome, primary ciliary dyskinesia, situs inversus

scholarly journals Situs Inversus Totalisand Primary Ciliary Dyskinesia (Kartagener's Syndrome) in a Horse

2008 ◽  
Vol 22 (2) ◽  
pp. 491-494 ◽  
Author(s):  
K. Palmers ◽  
G. van Loon ◽  
M. Jorissen ◽  
F. Verdonck ◽  
K. Chiers ◽  
...  
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Kartagener's Syndrome ◽  
Ciliary Dyskinesia

scholarly journals Kartagener’s Syndrome Presenting As Bilateral Recurrent Nasal Polyposis In A Young Boy

2018 ◽  
Vol 08 (04) ◽  
pp. 274-277
Author(s):  
Zeba Ahmed ◽  
Warda Waseem ◽  
Uroosa Saman
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Nasal Polyposis ◽  
Chronic Sinusitis ◽  
Correct Diagnosis ◽  
Congenital Disease ◽  
Kartagener Syndrome ◽  
Kartagener's Syndrome ◽  
Ciliary Dyskinesia ◽  
Recurrent Nasal Polyposis

Kartagener's syndrome is a very rare congenital disease consists of a classic triad, sinusitis, situs inversus and bronchiectasis. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and Kartagener syndrome. We are presenting a case of Kartagener’s syndrome in a 10-year-old boy presented with chronic sinusitis leading to bilateral multiple nasal polyposis. He also had situs inversus and chronic bronchiectasis. He had undergone surgery two years back for nasal polyposis but now again presenting as recurrent nasal polyposis. In order to prevent the dreadful complications correct diagnosis in early life is very important in such patients.

scholarly journals Kartagener Syndrome: Congenital Variety of Primary Ciliary Dyskinesia with Infertility

2010 ◽  
Vol 1 (1) ◽  
pp. 16-17
Author(s):  
Amit Nandan Dhar Dwivedi
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Chronic Sinusitis ◽  
The United States ◽  
Medical Sciences ◽  
Immotile Cilia ◽  
Kartagener's Syndrome ◽  
P 16 ◽  
Classical Triad ◽  
Ciliary Dyskinesia

We report a rare case of Kartagener's Syndrome, congenital variety of Primary Ciliary Dyskinesia (PCD) with infertility. The patient exhibited the classical triad of which was elucidated by Manes Kartagener in 1933. The frequency of KS in the United States is 1 case per 32,000 live births. Situs inversus occurs randomly in half the patients with PCD; therefore, for every patient with KS, another patient has PCD but not situs inversus.  Current nomenclature classifies all congenital ciliary disorders as PCDs in order to differentiate them from acquired types. KS is part of the larger group of disorders referred to as PCDs. Approximately one half of patients with PCD have situs inversus and, thus, are classified as having KS.Keywords: Immotile cilia syndrome; Primary ciliary dyskinesia (PCD); Situs inversus; Chronic sinusitis; Bronchiectasis.DOI: 10.3126/ajms.v1i1.2605Asian Journal of Medical Sciences Vol.1(1) 2010 p.16-17

scholarly journals Situs inversus totalis - a case report

2014 ◽  
Vol 03 (04) ◽  
pp. 220-224
Author(s):  
Malamoni Dutta ◽  
Joydev Sarma
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Autosomal Recessive ◽  
Situs Inversus Totalis ◽  
Medical Attention ◽  
Kartagener Syndrome ◽  
Live Births ◽  
Medical College ◽  
Exact Etiology ◽  
Ciliary Dyskinesia

AbstractSitus inversus is a congenital positional anomaly characterized by transposition of abdominal viscera and when associated with right sided heart (Dextrocardia) is referred to as Situs inversus totalis. It is not so uncommon congenital positional anomaly but can be a diagnostic problem at times. The case was detected in the Department of Anatomy, Gauhati Medical College during the routine dissection. Situs inversus was first described by Aristotle in animals and by Fabricius in humans. Its incidence has been reported between 1 in 4000 to 20,000 live births. The exact etiology is unknown but Autosomal recessive and X-linked inheritance have been reported. It can also occur in association with syndromes such as Kartagener syndrome or Primary Ciliary Dyskinesia (PCD). Many people with situs inversus totalis are unaware of their unusual anatomy until they seek medical attention for any condition.

Triple A syndrome: a case report

2020 ◽  
pp. 004947552096194
Author(s):  
Piyush Manoria
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Morbidity And Mortality ◽  
Adrenal Failure ◽  
Triple A Syndrome ◽  
Rare Autosomal Recessive Disorder ◽  
High Degree

Triple A syndrome is a rare autosomal recessive disorder characterised by alacrimia, achalasia and adrenal failure. It was first reported by Allgrove in 1978 and 100 cases have been reported worldwide. This case report concerns a 24-year-old woman who was referred for evaluation of dysphagia and was finally diagnosed as such a case. A high degree of suspicion enables all the components of this syndrome to be searched for, as early diagnosis can reduce the morbidity and mortality.

scholarly journals Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Fuad Al Mutairi ◽  
Randa Alkhalaf ◽  
Abdullah Alkhorayyef ◽  
Fayhan Alroqi ◽  
Alyafee Yusra ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Molecular Testing ◽  
Case Presentation ◽  
Immotile Cilia ◽  
Whole Exome ◽  
Novel Variant ◽  
Pathophysiological Aspect ◽  
Ciliary Dyskinesia

Abstract Background Primary Ciliary Dyskinesia (PCD) is also known as immotile-cilia syndrome, an autosomal recessive disorder of ciliary function, leading to mucus retention in the respiratory system in childhood. Our knowledge in the pathophysiological aspect of this devastating disorder is increasing with the advancement of genetic and molecular testing. Case presentation Here in, we report two siblings with a classical clinical and radiological presentation of PCD. Using whole exome sequencing we identified a homozygous truncating variant (c.3402 T > A); p.(Tyr1134*) in the NEK10 gene. Western bolt analysis revealed a decrease in the expression of NEK10 protein in the patient cells. Conclusions NEK10 plays a central role in the post-mitotic process of cilia assembly, regulating ciliary length and functions during physiological and pathological status. This study highlights the challenges of identifying disease-causing variants for a highly heterogeneous disorder and reports on the identification of a novel variant in NEK10 which recently associated with PCD.

scholarly journals Odontostomatological Findings in Heimler Syndrome: A Case Report

Proceedings ◽  
2019 ◽  
Vol 35 (1) ◽  
pp. 51
Author(s):  
Romano ◽  
Barillari ◽  
Lajolo ◽  
Vella ◽  
Costa ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Rare Autosomal Recessive Disorder

Heimler syndrome (HS) is rare autosomal-recessive disorder. [...]

scholarly journals Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient

2020 ◽  
Author(s):  
Musallam Al-Araimi ◽  
Nishath Hamza ◽  
Aliya Al-Hosni ◽  
Ashwaq Al Maimani
Keyword(s):  
Case Report ◽  
Middle East ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Marriage Rate ◽  
Rare Autosomal Recessive Disorder ◽  
Middle East Countries ◽  
Novel Variant ◽  
First Time

AbstractSpondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presents an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with SOS for the first time. Oman and other Middle East countries have a high consanguine marriage rate. Our case report will increase knowledge of SOS syndrome to be able to provide genetic diagnosis and counseling for other family members and families as well as prenatal diagnostics for the future pregnancies.

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