Left bronchial isomerism associated with bronchomalacia, presenting with intractable wheeze.

Lee, P; Bush, Andrew; Warner, J. O.

doi:10.1136/thx.46.6.459

Cited by 16 publications

(8 citation statements)

References 10 publications

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“…Bronchial isomerism is a rare congenital abnormality defined as the absence of the normal lateralizing features which distinguish right and left-sided in the lungs. The morphology of the bronchial tree is defined on the basis of: the length of the main bronchus, the course of pulmonary artery on the bronchus and the number of lobes in the lung [ 16 ]. Thus, the left bronchial isomerism is characterized by a long main bronchus, two hyparterial bronchi, two bi-lobed lungs.…”

Section: Discussionmentioning

confidence: 99%

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene

et al. 2014

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BackgroundKabuki syndrome (KS) is a rare, multiple congenital anomalies/intellectual disability syndrome caused by mutations of MLL2 gene, which codifies for a histone methyltrasferase that regulates the embryogenesis and the tissue development. Left-bronchial isomerism is a rare congenital abnormality that can be defined as the absence of the normal lateralizing features which distinguish right and left-sides in the lungs. To date, this is the first report of left-bronchial isomerism in association with KS.Case presentationA one-month-old Caucasian male patient underwent our attention for microcephaly, dysmorphic features (long palpebral fissures, eyebrows with sparse lateral third, everted lower eyelids, blue sclerae, large dysplastic ears, lower lip pits), persistent fetal fingertip pads, short stature, heart defects (interventricular defect and aortic coarctation), unilateral cryptorchidism, hypotonia and delay in gross motor skills. These features suggested a diagnosis of KS and a molecular analysis confirmed a novel frame-shift mutation in the exon 11 of MLL2 gene. Subsequently, given recurrent respiratory infections with a normal immunological status, he underwent a chest CT scan that showed a left bronchial isomerism.ConclusionWe report a patient affected by KS, with a novel MLL2 mutation and an atypical phenotype characterized by left-side bronchial isomerism. Interestingly, genes involved in the heterotaxia/isomerism such as ROCK2 and SHROOM3 are known to interact with MLL2 gene. In order to achieve a correct diagnosis and an appropriate therapy, the presence of pulmonary anatomical variations should be investigated in KS patients with respiratory signs not associated to immunological deficiency. Finally, our findings support the hypothesis that the mutations leading to a complete loss of function of MLL2 gene is often associated with complex visceral malformations.

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Section: Discussionmentioning

confidence: 99%

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene

et al. 2014

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“…Left isomerism is associated with polysplenia, congenital heart disease [12], including abnormalities of the drainage of the caval and hepatic veins to the heart [14], and cardiac conduction defects [5,15]. Abdominal visceral malrotation is another association, but, other than in the author's original report [1], abnormalities of airway function such as bronchomalacia have not to the author's knowledge been previously described.…”

Section: Discussionmentioning

confidence: 98%

“…An echocardiogram confirmed normal atrial arrangement, and an abdominal ultrasound scan showed normal visceral positions with a single spleen. Fuller details of this child have been reported elsewhere [1].…”

Section: Patientmentioning

confidence: 99%

“…As part of that review, alternative diagnoses should be considered. This paper describes three children with apparent steroid-resistant asthma, one who was the subject of a previous case report [1] and two other cases, who had bronchomalacia with a very rare combination of other congenital abnormalities, including left bronchial isomerism with usual atrial arrangement. Isomerism can be defined as the absence of the normal lateralizing features which distinguish right and left-sided organs such as the lungs [2].…”

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confidence: 99%

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Hip fracture and bone histomorphometry in a young adult with cystic fibrosis

Haworth¹,

Freemont²,

Webb³

et al. 1999

Eur Respir J

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A 25-yr-old male with cystic fibrosis sustained a fragility fracture of the left femoral neck, which required surgical correction. He had several risk factors for the development of low bone density and despite treatment with an oral bisphosphonate, his bone mineral density reduced further. The patient died 2 yrs after sustaining the fracture. Bone specimens obtained at post mortem demonstrated severe cortical and trabecular osteopenia, but the histological features were not typical of osteoporosis or osteomalacia. Osteoporosis is thought to be a common complication of cystic fibrosis. The novel histomorphometric appearances reported here suggest that the bone disease of cystic fibrosis may be more complex and possibly unique. Labelled bone biopsies are required to clarify the bone defect leading to low bone density in cystic fibrosis patients so that appropriate therapeutic strategies can be developed.

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“…The congenital form is usually found in children and is associated with congenital anomalies such as polysplenia, malrotation of the abdominal viscera, thorax piriformis, congenital cardiac diseases and bronchial isomerism. [ 10 11 12 ] Other authors support the acquired hypothesis, in which bronchiectasis is secondary to adenovirus infections that cause bronchomalacia. [ 13 ]…”

Section: Introductionmentioning

confidence: 96%

The clinical manifestations, diagnosis and management of williams-campbell syndrome

Aldave

Saliski²

2014

North Am J Med Sci

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Williams-Campbell syndrome is a rare congenital syndrome characterized by the absence of cartilage in subsegmental bronchi leading to formation of bronchiectasis distal to the affected bronchi. The differential diagnosis of bronchiectasis is broad and the rarity of the disease poses a diagnostic and management challenge for clinicians. This present review aims to help the understanding of the clinical manifestations, pathophysiological features, diagnostic modalities, management and differential diagnosis of Williams-Campbell syndrome. A MedLine/PubMed search was performed identifying all relevant articles. No restrictions were used for publication dates. The author used the keywords “Williams-Campbell syndrome,” “non-cystic fibrosis bronchiectasis” and “congenital bronchiectasis” finding 503, 195 and 489 articles, respectively.

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Left bronchial isomerism associated with bronchomalacia, presenting with intractable wheeze.

Cited by 16 publications

References 10 publications

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene

Hip fracture and bone histomorphometry in a young adult with cystic fibrosis

The clinical manifestations, diagnosis and management of williams-campbell syndrome

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