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Pulmonary Sequestration: A 29 Patient Case Series and Review.

ABSTRACT: Pulmonary sequestration also known as bronchopulmonary sequestration is a rare disease, with very few case series reviewed in literature. In this study, we review the demographics, presentation, imaging and treatment of pulmonary sequestration in 29 patients from our institution, and provide comparison data from previously published series with an overview of the disease history.Records reviewed for all patients evaluated and treated in our institution with a pathological proven diagnosis of pulmonary sequestration from January 2004 through December 2013. Collected data included demographics, clinical presentation, diagnostic imaging, location of the lesion, type of sequestration, and subsequent treatment.Of the 29 patients reviewed 8 (28%) were children 0-2 years, 1 adolescent age 17, and 20 (69%) adults 21-70 years with a mean age of 42 among adults. Systemic arterial supply to the sequestered segment was demonstrated with computed tomographic angiography (CTA) in 25 patients (86%). In 19 patients (66%), the sequestered segment was located in the left lower lobe, and 16 (55%) were intralobar.Diagnostic delays of pulmonary sequestration were common among the adult population as the presenting symptoms often mimicked other common pulmonary diseases, such as pneumonia and asthma. These findings were consistent among previously published series. CTA was the preferred imaging modality for preoperative planning with high sensitivity and specificity in identifying the lesion.

SUBMITTER: Tashtoush B

PROVIDER: S-EPMC4717683 | biostudies-other | 2015 Dec

REPOSITORIES: biostudies-other

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Pulmonary Sequestration: A 29 Patient Case Series and Review.

Tashtoush Basheer B Memarpour Roya R Gonzalez Jose J Gleason James Benjamin JB Hadeh Anas A

Journal of clinical and diagnostic research : JCDR 20151201 12

<h4>Introduction</h4>Pulmonary sequestration also known as bronchopulmonary sequestration is a rare disease, with very few case series reviewed in literature. In this study, we review the demographics, presentation, imaging and treatment of pulmonary sequestration in 29 patients from our institution, and provide comparison data from previously published series with an overview of the disease history.<h4>Materials and methods</h4>Records reviewed for all patients evaluated and treated in our inst ...[more]

PMID: 26816878

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Project description:BackgroundSpinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible.ResultsClinical information on 21 individuals from 15 unrelated families with ITPR1 mutations was retrospectively collected using standardized questionnaires, including 11 previously unreported singletons and 2 new patients from a previously reported family. We describe the genetic, clinical and neuroimaging features of these patients to further characterize the clinical features of this rare condition and assess for any genotype-phenotype correlation for this disorder. Our cohort consisted of 9 males and 12 females, with ages ranging from 28 months to 49 years. Disease course was non-progressive with infantile-onset hypotonia and delays in motor and speech development. Gait ataxia was present in all individuals and 10 (48%) were not ambulating independently between the ages of 3-12 years of age. Mild-to-moderate cognitive impairment was present in 17 individuals (85%). Cerebellar atrophy developed after initial symptom presentation in 13 individuals (72%) and was not associated with disease progression or worsening functional impairment. We identified 12 different mutations including 6 novel mutations; 10 mutations were missense (with 4 present in >1 individual), 1 a splice site mutation leading to an in-frame insertion and 1 an in-frame deletion. No specific genotype-phenotype correlations were observed within our cohort.ConclusionsOur findings document significant clinical heterogeneity between individuals with SCA29 in a large cohort of molecularly confirmed cases. Based on the retrospective observed clinical features and disease course, we provide recommendations for management. Further research into the natural history of SCA29 through prospective studies is an important next step in better understanding the condition.

Dataset Information

Pulmonary Sequestration: A 29 Patient Case Series and Review.

Publications

Pulmonary Sequestration: A 29 Patient Case Series and Review.

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