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      Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings

      case-report

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          Abstract

          Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, developmental lung disorder, which has been increasingly reported. This entity usually presents as neonatal persistent pulmonary hypertension that is unresponsive to treatment, and is known to be uniformly fatal. Recent discoveries in the genetic field, and intensive treatments, may change the natural course of this disease, permitting easier diagnosis and giving new hope for the dismal prognosis. The authors present two cases of siblings, with two years of difference, from different fathers - one of them was a first-degree and the other a second-degree cousin of the mother. Both patients were full-term babies born apparently without malformations and were sent to the nursery. Both siblings near 35 hours of age presented severe respiratory failure due to pulmonary hypertension. The outcome was fatal in both cases and at autopsy ACD/MPV was diagnosed. The authors call attention to this entity in the differential diagnosis of acute respiratory distress in early life.

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          Diffuse lung disease in young children: application of a novel classification scheme.

          F Askin, Claire Langston, Lillian S Coventry … (2007)
          Considerable confusion exists regarding nomenclature, classification, and management of pediatric diffuse lung diseases due to the relative rarity and differences in the spectrum of disease between adults and young children. A multidisciplinary working group was formed to: (1) apply consensus terminology and diagnostic criteria for disorders presenting with diffuse lung disease in infancy; and (2) describe the distribution of disease entities, clinical features, and outcome in young children who currently undergo lung biopsy in North America. Eleven centers provided pathologic material, clinical data, and imaging from all children less than 2 years of age who underwent lung biopsy for diffuse lung disease from 1999 to 2004. Multidisciplinary review categorized 88% of 187 cases. Disorders more prevalent in infancy, including primary developmental and lung growth abnormalities, neuroendocrine cell hyperplasia of infancy, and surfactant-dysfunction disorders, constituted the majority of cases (60%). Lung growth disorders were often unsuspected clinically and under-recognized histologically. Cases with known surfactant mutations had characteristic pathologic features. Age at biopsy and clinical presentation varied among categories. Pulmonary hypertension, presence of a primary developmental abnormality, or ABCA3 mutation was associated with high mortality, while no deaths occurred in cases of pulmonary interstitial glycogenosis, or neuroendocrine cell hyperplasia of infancy. This retrospective cohort study identifies a diverse spectrum of lung disorders, largely unique to young children. Application of a classification scheme grouped clinically distinct patients with variable age of biopsy and mortality. Standardized terminology and classification will enhance accurate description and diagnosis of these disorders.
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            Alveolar capillary dysplasia.

            Pawel Stankiewicz, Paul Bishop, Robin Steinhorn (2011)
            Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare, fatal developmental lung disorder of neonates and infants. This review aims to address recent findings in the etiology and genetics of ACD/MPV and to raise awareness of this poorly known disease, which may also present as milder, unclassified forms. Successively discussed are what is known about the epidemiology, pathogenesis, pathophysiology, diagnostic indicators and approaches, genetic testing, treatment, and cases of delayed onset. The review concludes with suggestions for future directions to answer the many unknowns about this disorder.
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              Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

              Thomas J. Cahill, Stephen Lam, Lananh Nguyen … (2013)
              Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis. © 2013 Wiley Periodicals, Inc.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Autops Case Rep
                Journal ID (iso-abbrev): Autops Case Rep
                Journal ID (publisher-id): autopsy
                Title: Autopsy & Case Reports
                Publisher: São Paulo, SP: Universidade de São Paulo, Hospital Universitário
                ISSN (Electronic): 2236-1960
                Publication date (Electronic): 30 March 2015
                Publication date Collection: Jan-Mar 2015
                Volume: 5
                Issue: 1
                Pages: 21-27
                Affiliations
                [1 ]Department of Pediatrics - Childrens Institute - Hospital das Clínicas - Faculdade de Medicina da Universidade de São Paulo, São Paulo/SP, Brazil.
                [2 ]Department of Pathology - Hospital das Clínicas - Faculdade de Medicina da Universidade de São Paulo, São Paulo/SP, Brazil.
                [3 ]Anatomy Pathology Service - Hospital Universitário - Universidade de São Paulo, São Paulo/SP, Brazil.
                [4 ]Department of Neonatology - Hospital Universitário - Universidade de São Paulo, São Paulo/SP, Brazil.
                Author notes

                Conflict of interest: None

                Correspondence 
Gabriel Nuncio Benevides 
Divisão de Clínica Pediátrica - Hospital Universitário 
Avenida Prof. Lineu Prestes, 2565 – São Paulo/SP – Brazil 
CEP: 05508-000 
Phone: +55 (11) 97484-0708 
E-mail: gnbenevides@ 123456gmail.com
                Article
                Publisher ID: autopsy-05-01021
                DOI: 10.4322/acr.2014.045
                PMC ID: 4608164
                SO-VID: 9918d078-5171-4125-a39b-a33d8229e413
                Copyright © Autopsy and Case Reports. ISSN 2236-1960. Copyright © 2014.
                License:

                This is an Open Access article distributed of terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted non-commercial use, distribution, and reproduction in any medium provided article is properly cited.

                History
                Date received : 19 November 2014
                Date accepted : 13 February 2015
                Categories
                Subject: Article / Autopsy Case Report
                Subject: Artigo / Relato de Caso de Autópsia

                Keywords: alveolar capillary dysplasia,respiratory insufficiency,hypertension,pulmonary,newborn,siblings,autopsy
                Data availability:
                Keywords: alveolar capillary dysplasia, respiratory insufficiency, hypertension, pulmonary, newborn, siblings, autopsy

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