Unilateral Agenesis of Lung , Kidney with Cardiac and Vertebral Defects a Rare Association

Unilateral lung agenesis initially misdiagnosed as unilateral massive pleural effusion with collapse of lung, and after several investigations, including ultrasonography or CT scan of thorax, fibre-optic bronchoscopy or bronchography, a final diagnosis of unilateral absence of lung is made. An anomaly scan may also reveal associated renal, cardiac and vertebral defects. Here we report a 7 months old female who presented with respiratory distress since birth and after a thorough investigation, she was found to have this rare association of pulmonary-renal-cardiacvertebral defect. DOI: http://dx.doi.org/10.3126/jnps.v34i1.8898 J Nepal Paediatr Soc 2014;34(1):77-79


Introduction
P ulmonary agenesis is an extremely rare condi on with a reported prevalence of 34 per million live births 1 .Le sided pulmonary agenesis is more common and they have a longer life expectancy than those with right sided pulmonary agenesis 2 , which is more commonly associated with other congenital abnormali es like cardio-vascular, skeletal, gastrointes nal or genitor-urinary system.Muhamed 3 reported The fi rst case from India in 1923, a er a medico legal autopsy which showed le sided pulmonary agenesis.But the frequency of the full spectrum of this pulmonary-cardio-renalvertebral associa on is not known.

The Case
A Five months old boy (6.1 kg) was referred to our hospital as emergency basis with the complaints of progressively increasing cough, fever, noisy breathing and diffi culty in respira on for last ten days.He was provisionally diagnosed as a case of le sided massive pleural eff usion.There was no history of choking during feeding, foreign body inhala on, vomi ng, suck-rest-suck cycle and/or cyanosis.The pa ent was suff ering from similar type of illness since birth but never needed hospital admission because the a acks were never so serious.He was born of a non-consanguineous marriage in a Hindu family from a 32 years old third gravida mother who had previous two normal girl children.Antenatal period was uneven ul without any exposure to radia on or teratogen.He has born at term gesta on, by normal vaginal delivery in hospital, without any complica ons.There was no family history of any congenital malforma on or unexpected death.Developmental milestones were normal for age.The CXR -PA view done outside showed right upper lobe consolida on with diff use opacity of le chest and medias nal shi towards le .
On examina on, he was ac ve, alert with normal anthropometry but had severe respiratory distress.General physical examina on was unremarkable except a mild hypotonia of all four limbs.He had tachycardia (heart rate-180/min), tachypnea (respiratory rate-94/min), grun ng with intercostal and subcostal retrac ons but no cyanosis.The oxygen satura on was 90%    murmur with wide and fi xed spli ng of second heart sound.On abdominal examina on, liver was palpated on right side, one cm below costal margin.Chest X ray (Fig. 1) showed complete opacifi ca on of the le hemithorax without air bronchogram, and with medias nal shi towards le .Lung on right side was enlarged with gross hernia on to the le .Cardiac silhoue e was not visible in the right side because of intrathoracic displacement of heart.CT Chest (Fig. 4) showed complete opacifi ca on of le hemithorax with visualiza on of the proximal part of the ipsilateral main bronchus as well aspulmonary artery and vein.There was trans-medias nal hernia on of hyperinfl ated le lung towards le side.Heart, trachea, oesophagus, and great vessel of medias num were grossly deviated to le side.Diagnosis of complete agenesis of le lung was made.In echocardiography, he was found to have small (6 mm) Os um secondum atrial septal defect with signifi cant le to right shun ng, absent le pulmonary artery, mild pulmonary artery hypertension but normal sized cardiac chambers.Cranial as well as abdominal ultrasounds were unremarkable, except absence of the le kidney.Bone scan revealed cle vertebra with spina bifi da at upper dorsal level.There was no other gross congenital anomaly found on anomaly scans.Pa ent improved on intra venous an bio cs and conserva ve treatment in seven days and discharged home in clinically stable condi on with an advice of three monthly follow-up.

Discussion
Morgagni in 1762 fi rst described congenital underdevelopment of the lungs 4 .This en ty is believed with oxygen.His chest was abnormal shaped, with decreased movements on le side (Fig 2).Trachea was deviated towards le side.Apex beat was palpable on le side at 4 th intercostal space in anterior axillary line.There was dull percussion note on the whole of the le side of chest.Breath sounds were absent on the le side.Cardiac examina on revealed a so diastolic to be caused by failure of the developmental balance between the two lung buds at approximately 4th week of gesta on due to unknown ae ology 5 .Though Gene c, teratogenic and mechanical factors may be responsible for these 6 , but they are generally sporadic, with only a few reports of these condi ons occurring in siblings in an autosomal recessive pa ern.
Monaldi divided the mal-development of lung in four groups.Group I: No bifurca on of trachea; Group II: Only rudimentary main bronchus; Group III: Incomplete development a er division of main bronchus; and Group IV: Incomplete development of sub segmental bronchi and small segment of the corresponding lobe.The present case belongs to the second group of Monaldi classifi ca on.
According to Boyden 7 there are three degrees of maldevelopment: (i) agenesis, in which there is complete absence of lung ssue, (ii) aplasia, in which rudimentary bronchus is present but no lung ssue is present, and (iii) hypoplasia, in which all the normal pulmonary ssues are present but are under-developed.
The incidence of unilateral pulmonary agenesis is one in every 10,000 to 15,000 autopsies.Almost 50% of the pa ents have associated anomalies of the other systems.Le pulmonary agenesis is o en an isolated fi nding but recently, De George syndrome 8 and velocardiofacial syndrome have been reported in associa on with le pulmonary agenesis.In contrast, right pulmonary agenesis is frequently (>50.0%)associated with congenital malforma ons in cardiovascular (14%), gastrointes nal (14%), skeletal (12%), and genitourinary (9%) system 9 .Recurrent pulmonary infec ons, decreased exercise tolerance, and mild dyspnea during exer on are the most common symptoms.Less frequently found are hemoptysis and signs of pulmonary hypertension.Diagnosis may be established with help of chest x-ray, CT thorax 10 , fi bre-op c bronchoscopy, and if possible pulmonary angiography and bronchography .A hypoplas c lung may show some benefi ts with intrauterine repeated amniofusions, surfactant administra on ,intrauterine vesicoamnio c shunts and endoscopic abla on of valves and PLUG (plug the lung un l it grows) by fetoscopic tracheal occlusion with a clip.A er delivery respiratory support is given ranging from oxygen to mechanical ven la on including ECMO (Extracorporeal membrane oxygena on).Dialysis may be required for support of renal func on.Prophylaxis for respiratory syncy al virus, pneumococcus, infl uenza infec ons are recommended.

Conclusion
Unilateral agenesis of lung is an uncommon condi on, frequently associated with other congenital anomalies.Some mes it is misdiagnosed as massive pleularal eff usion with collapse of the lung.An ultrasonography of the chest can easily diff eren ate between these two condi ons.
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Fig 1 :
Fig 1: CXR PA view showing absence of le lung with medias nal shi towards le and vertebral anomaly at the level of D 4,5,6.Fig 4: CT Chest revealed absence of le main bronchus just a er the bifurca on with no lung ssue in the le chest.

Fig 4 :
Fig 1: CXR PA view showing absence of le lung with medias nal shi towards le and vertebral anomaly at the level of D 4,5,6.Fig 4: CT Chest revealed absence of le main bronchus just a er the bifurca on with no lung ssue in the le chest.