Genetic and Developmental Disorders: Student/Resident Case Report Poster - Genetic and Developmental Disorders |

A Rare Childhood Condition Newly Diagnosed in an 82-Year-Old Patient FREE TO VIEW

Shaylika Chauhan, MD; Balaji Yegneswaran, MD
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Saint Peter's University Hospital, New Brunswick, NJ

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;150(4_S):643A. doi:10.1016/j.chest.2016.08.736
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SESSION TITLE: Student/Resident Case Report Poster - Genetic and Developmental Disorders

SESSION TYPE: Student/Resident Case Report Poster

PRESENTED ON: Tuesday, October 25, 2016 at 01:30 PM - 02:30 PM

INTRODUCTION: Swyer James syndrome, first described in the 1950’s is a rare entity associated with post infectious bronchiolitis obliterans occurring during childhood and includes hypoplasia and/or agenesis of the pulmonary arteries resulting in pulmonary parenchymal hypoperfusion. 1,2

CASE PRESENTATION: An 82 year old Caucasian female presented to the hospital with complaints of worsening shortness of breath at rest for 7 days. She has had similar episodes of shortness of breath since 2007 which were diagnosed to be COPD exacerbations. Her past medical history was significant for systolic heart failure, COPD, hypothyroidism, deep venous thrombosis, hypertension, and CKD. Patient is a lifelong nonsmoker. Her home meds included levothyroxine, valsartan,furosemide, rivaroxaban, tiotropium, fluticasone-salmeterol, carvedilol. Her HR was 124 beats/min, SpO2 99% on 2 liters, RR 20, trace pedal edema and bilateral rales.Her WBC was 15,400/mm3, Hb 8.3 g/dl, Creatinine 1.36 mg/dl, BNP >5000pg/ml. EKG showed sinus tachycardia. Chest ray showed decreased right-sided lung volume.Transthoracic echocardiogram showed LVH and mild systolic dysfunction. CT angiogram of lung showed no evidence of pulmonary embolus in the left pulmonary artery, no visualized right pulmonary artery with extensive cystic changes were noted in right hemithorax predominantly peripheral,with increased adjacent atelectasis and right hemithorax volume loss. For her acute on chronic exacerbation of her congestive heart failure patient was treated with carvedilol and furosemide. The patient was also given steroids and levofloxacin for COPD exacerbation. She was discharged on day six maintaining the bronchodilator and heart failure therapeutics.

DISCUSSION: Patient has documented history of shortness of breath for more than a decade. The most likely cause of breathlessness in this patient was CHF exacerbation with the parenchymal and vascular abnormalities seen in SJMS contributing to chronic shortness of breath. SJMS is a childhood disease and rarely patients are diagnosed as adults if post infective bronchiectasis is not very severe as in our patient who is diagnosed in the 8th decade. This condition is best diagnosed by CT chest and findings include low attenuation secondary to air trapping, bronchiectasis changes, hyperlucent lung and diminished central and peripheral pulmonary arteries.

CONCLUSIONS: SJMS continues to be a rare disease, infrequently seen in pulmonary practice. It is important to know that X ray chest underestimates the prevalence of this disease as in our patient and HRCT should be performed if suspicion for this condition is high. Under-diagnosis of this condition leads to decreased efficacy of treatment.

Reference #1: Swyer PR, James GCW: A case of unilateral pulmonary emphysema. Thorax 8: 133-136, 1953

Reference #2: Carlos Capela, Paulo Gouveia: Adult diagnosis of Swyer-James-MacLeod syndrome: a case report. Journal of Medical Case Reports 2011, 5:2

DISCLOSURE: The following authors have nothing to disclose: Shaylika Chauhan, Balaji Yegneswaran

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