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Genetic and Developmental Disorders: Genetic Disorders |

A Case Report of Right Lung Agenesis With Klippel-Feil Syndrome FREE TO VIEW

Mujeeb Rahman, MD
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Institute of Medical Science, Banaras Hindu University, Varanasi, India


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


Chest. 2016;149(4_S):A243. doi:10.1016/j.chest.2016.02.253
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SESSION TITLE: Genetic Disorders

SESSION TYPE: Case Report Slide

PRESENTED ON: Saturday, April 16, 2016 at 02:15 PM - 03:45 PM

INTRODUCTION: Agenesis of lung is a rare congenital anomaly, Other systemic co-morbidities such as Cardiovascular, Gastro intestinal, Musculoskeletal and Urogenital system anomalies can be observed in more than half of patient. Diagnosis in adulthood is very rare.

CASE PRESENTATION: A 40 year male presented with dyspnoea, cough and fever of 4 month duration, with history of frequent respiratory infection in child hood. On examination chest was asymmetric as there was flattening of infraclavicular area, decreased breathing movement, chest expansion &drooping of shoulder in right side. Trachea was shifted to right, Breath sound was absent in the right side with expiratory wheezes in left. Percussion note was dull on right and hyper resonance in left. X RAY CHEST showing homogenous opacity on right&compensatory emphysema on left side. CECT THORAX showing complete absence of right main bronchus with no visible aerated right lung, associated with marked mediastinal shift and cardiac rotation and compensatory hyper expansion with anterior herniation of the left lung. Right pulmonary artery and vein was absent. BRONCHOSCOPY also confirm absence of right main bronchus. PFT showed obstructive pattern and 2D ECHO CARDIOGRAPHY was normal. In Musculoskeletal examination there was low hair line with short neck, scoliosis with convexity to left and elevation of right scapula (sprengel’s deformity) with X RAY AND CECT cervical spine showing absent C1 and C6 cervical vertebrae with partial bony fusion involving right part of C7-T1 vertebral body suggestive of klippel-feil syndrome3.

DISCUSSION: Pulmonary agenesis or aplasia occurs due to the failure of the bronchial analogue to divide equally between the two lung buds. Schneider1 classified lung agenesis in to three groupe. Type1 (agenesis) complete absence of lung bronchus and vascular supply. Type2(aplasia) rudimentary bronchus with complete absence of lung parenchyma Type3 (hypoplasia) presence of variable amount of bronchial tree, lung parenchyma and vasculature Left side agenesis is more common and these subjects have longer life expectancy than with right side agenesis. This probably due to excessive mediastinal shift and malrotation of carina in right side agenesis, which hinder proper drainage of functioning lung and increases chance of respiratory infection. More than half of the cases lung agenesis will be associated with other anomalies. Our patient had musculoskeletal anomaly named Klippel-Feil Syndrome. Two or more cervical non segmented vertebrae are sufficient for diagnosis. It is believed to result from faulty segmentation along the embryo's developing axis doring the 3rd to 8 th week of gestation.

CONCLUSIONS: Diagnosed as type1 lung agenesis with compensatory emphysema, Type 2 Klippel-Feil syndrome and secondary infection. Treated with antibiotics bronchodilator and oxygen support.

Reference #1: P. Schneider, E. Schwatbe Part 2 Die Morphologie der Missbildungen Des Menschen Under Thiere, vol. 3 Gustav Fischar, Jena (1912) 817-822

DISCLOSURE: The following authors have nothing to disclose: Mujeeb Rahman

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