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Original Research: RETT SYNDROME |

Unrecognized Lung Disease in Classic Rett Syndrome: A Physiologic and High-Resolution CT Imaging Study

Claudio De Felice, MD; Gianni Guazzi, MD; Marcello Rossi, MD, FCCP; Lucia Ciccoli, MD; Cinzia Signorini, PhD; Silvia Leoncini, PhD; Gabriele Tonni, MD, PhD; Giuseppe Latini, MD; Giuseppe Valacchi, PhD; Joussef Hayek, MD
Author and Funding Information

From the Neonatal Intensive Care Unit (Dr De Felice), the Department of Radiology (Dr Guazzi), the Respiratory Pathophysiology and Rehabilitation Unit (Dr Rossi), and the Child Neuropsychiatry Unit (Dr Hayek), University Hospital, Azienda Ospedaliera Universitaria Senese of Siena, Siena, Italy; the Department of Pathophysiology, Experimental Medicine, and Public Health (Drs Ciccoli, Signorini, and Leoncini), and the Department of Biomedical Sciences (Dr Valacchi), University of Siena, Siena, Italy; the Obstetrics and Gynecology Unit (Dr Tonni), Guastalla Hospital, Guastalla, Italy; the Clinical Physiology Institute (Dr Latini), Istituto di Fisiologia Clinica-Consiglio Nazionale delle Ricerche, Lecce Section, Italy; and the Department of Food and Nutrition (Dr Valacchi), Kyung Hee University, Seoul, Korea.

Correspondence to: Claudio De Felice, MD, Neonatal Intensive Care Unit, S. M. Le Scotte General Hospital, AOUS Viale M. Bracci, 16, I-53100 Siena, Italy; e-mail: claudiodefelix@hotmail.it


Funding/Support: Supported in part by the Toscana Life Sciences (Orphan_0108 Call, 2008) and in part by the Fondazione Monte dei Paschi di Siena (Title: “Ricerca dello stress ossidativo e stato ipossico subclinico nella sindrome di Rett: nuovi possibili meccanismi patogenetici,” 2008), Siena, Italy.

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians (http://www.chestpubs.org/site/misc/reprints.xhtml).


© 2010 American College of Chest Physicians


Chest. 2010;138(2):386-392. doi:10.1378/chest.09-3021
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Background:  Breathing disorders in Rett Syndrome (RS) have been generally attributed to severe autonomic and/or brain stem dysfunction, and, to our knowledge, no information regarding lung morphologic characteristics exists to date. The aim of the present study was to determine if there are RS-associated pulmonary abnormalities.

Methods:  A total of 27 female subjects (age, M ± SD: 12.6 ± 5.9 y; age range: 3-32 y) with gene-encoding, methyl-CpG-binding-protein-2-mutation-confirmed RS underwent high-resolution CT (HRCT) scans of the thorax. A volumetric acquisition was used, and isotropic data sets were acquired with thin collimation (< 1-mm slice), scanning through the lungs and processing on a high-spatial-resolution kernel (bony algorithm).

Results:  Abnormal HRCT scan findings were observed in 15 of 27 (55.5%) cases, consisting of centrilobular nodules (10/15, 66.7%), thickening of the bronchial walls (8/15, 53.33%), and patchy ground-glass opacities (4/15, 26.7%), with upper lobe predominance. In addition, bronchiolectasis were found in nine of 15 (60%) patients.

Conclusions:  Pulmonary lesions, respiratory bronchiolitis-associated interstitial lung disease-like lesions, are present on imaging studies in about half of typical patients with RS. Further research is needed to clarify the epidemiologic characteristics and the pathogenesis of these previously unrecognized pulmonary abnormalities.

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