HelmiLubis, RidwanMuchtarDaulay, WismanDalimunthe, Rini Savitri Daulay
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1 Congenital Malformation of the Lung and Airways HelmiLubis, RidwanMuchtarDaulay, WismanDalimunthe, Rini Savitri Daulay DivisiRespirologiDepartemenIlmuKesehatanAnak FakultasKedokteran Universitas Sumatera Utara 2 Congenital anomalies: Account for one third infant deaths Leading cause of death developing countries Congenital malformation of respiratory system: 7,5-18,7% of all congenital anomalies Rank second of congenital malformation infant mortality Wide spectrum: asymptomatic to infant deaths 0,25 deaths per 1000 live births (US) 80% infant deaths cause by lung hypoplasia or dysplasia 1
2 Laryngomalacia 3 Introduction 4 Most common congenital anomaly in the upper airway Associated with multiple congenital anomaly Most cases are mild Not a true malformation delay maturation of the supporting structures of the larynx larynx more collapsible than normal during inspiration 2
3 5 Some cases larynomalacia due to short arytenoepiglottic folds, flaccidity of an omega-shaped epiglottis or collapsing arytenoid Laryngomalacia may acquired: infants with Pierre Robin sequence upper airway obstruction generate high negative pressure during inspiration Clinical manifestation 6 Inspiratorystridor: Early neonatal period 6 weeks of age most patients Following intercurrent upper respiratory tract infection More prominent during crying, feeding and respiratory tract infection Inspiratory force Significant airway obstruction unusual 3
4 Diagnosis 7 Based on Clinical history Physical examination Flexible laryngoscope Premature Prolonged intubation & failed extubation Rigid bronchoscopy Management 8 Beningn & self limited Symptoms usually resolve within mo & almost always by 2 yo of age Positive airway pressure Surgical Epiglottoplasty Epiglottopexy Release arytenoepiglottic fold Tracheostomy (rarely) Mild Case Patients with sleep disturbance Severe, sufficient growth & development 4
5 Complication 9 Pulmonary hypertension Corpulmonale Failure to thrive Impaired intellectual development secondary to episodes of hypoxia and hypercapnia Tracheomalacia 10 5
6 Introduction 11 Primary or secondary Localized or generalized Primary Tracheomalacia: Uncommon Abnormal softness of cartilage or shortening of the cartilagerings with a correspondingly pars membranacea Associated with Down syndrome, trisomy 9, DiGeorge syndrome (22q11 deletion), Poland syndrome 12 Most commonly tracheomalacia localized abnormality Secondary to extrinsic compression such as vascular ring or mediastinal cyst Secondary to prolonged intubation, tracheostomy and severe tracheobronchitis 6
7 Clinical Symptoms 13 Usually appear in early infancy Harsh loud vibratory cough Rattly chest Dyspnea Wheeze Possibly stridor Bagpipe sign sibilant expiratory note persisting after the end of visible expiration 14 Impaired clearance of normal mucous secretion past the abnormal tracheal segment cough&rattly chest Increased intrathoracic pressure during inspiration collapsmalacic segment narrowing airway lumen, airway obstruction and expiratory stridor Dyspnea and severe respiratory distress acute severe obstructive episode with cyanosis 7
8 Diagnosis 15 Chest X ray Marked change airway caliber on lateral inspiratory & expiratory Particularly short segment malacia Rigid bronchoscopy Direct visualization of malacic area Management 16 Conservative: most patient (isolated tracheomalacia) Physiotherapy improve clearance Anti biotic recurrent infection Oxygen Positive pressure ventilation Face mask Nasopharyngeal tube & endotracheal tube 8
9 17 Surgical Dying spell Recurrent Pneumonia Inability to extubate Feeding difficulties & failureto thrive Tracheostomy Lung transplantation Pulmonary Agenesis 18 9
10 Introduction 19 Bilateral Agenesis Rare Association with anencephali Unilateral Agenesis 1 in 10,000 to 20,000 autopsies Lobar Agenesis Rarer than compete absence of one lung When occur usually right upper & middle lobe Clinical Manifestation 20 Detectable flattening & reduced movement chest wall affected side Reduce air entry on auscultation Breathlessness on exertion Chest wall deformity Secondary scoliosis 10
11 Diagnosis 21 Chest radiography Mediastinal shift Herniation contralateral lung across the mediastinum Thorax CT Scan Absence of carina Blind ending bronchus Echocardiography & angiography Absence of pulmonary artery Rigid bronchoscopy Screening 22 Prenatal: ultrasound screening Fetal MRI avoid catastrophic consequences of an exit resection of this presumed abnormaly enlarged lung, which would in fact be the infant s one and only lung 11
12 Severe pulmonary hypoplasia 23 Total atelectasis cause by bronchial obstruction Unilateral emphysema with compression or collaps of contra lateral lung Severe pulmonary hypoplasia Management 24 Supportive treatment Correcting associated malformation Prevention & treatment of respiratory infections 12
13 Complication 25 Normal blood volume must flow through a reduced pulmonary vascular bed pulmonary hypertension Presence of hypoxia (which is potent pulmonary constrictor) or a cardiac left to right shunt accelerate pulmonary hypertension to irreversible pulmonary vascular disease Severe mediastinal shift progressive deterioration similar to postpneumonectomy syndrome Pulmonary Hypoplasia 26 13
14 27 Pulmonary hypoplasia (small lung) defined as lung weight more than 2 SD below the normal for age (or gestational age) Almost always accompanied by hypoplasiaof the corresponding pulmonary vessel Hypoplasia as an isolated phenomenon is rare Causes Table 1. Most common causes of Pulmonary Hypoplasia Condition leading to an egress of lung fluid SOL Thoracic cage anomalies Severe oligohydramnion (from premature rupture of membranes, bilateral renal agenesis, urinary tract obstruction) Compression of thoracic cage and abdominal contents by the uterus limitation of breathing movement Congenital diaphragmatic hernia Lung malformation Thoracic tumor Pleural effusion Abdominal condition pressing on the diaphragma (massive ascites) Achondroplasia Scoliosis 14
15 Conditions preventing normal fetal breathing movements Anencephaly Phrenic nerve agenesis Thoracic compression from below Thoracic compression from the side Abdominal tumors Ascites Amniotic bands Oligohydramnions Asphyxiating dystrophy/scoliosis or other chest wall deformity Clinical Finding Early infancy respiratory distress ( mild to severe depending on the degree of hypoplasia) Severe bilateral hypoplasia thoracic cage reduced in size bell shaped 15
16 Diagnosis Chest X ray: Ribs may appear crowded Low thoracic to abdominal ratio Isotope scanning perfusion>ventilation on the side of the lesion Treatment No specific treatment Supportive measures : Mechanical ventilation Supplemental oxygen 16
17 Prognosis Infants who remain on high pressure ventilation and high inspired oxygen concentration at the end of the first week extremely bad prognostic Congenital Hernia Diaphragmatica 34 17
18 Definition: developmental abnormality of the diaphragm that allow abdominal viscera to enter the thoracic cavity Defect: Most common: posterolateral (Bochladeck) 90% on the left side, 10% on the right side and 1% bilateral Retrosternal (Morgagni) Epidemiology Incidence: 1 in lives birth : = 1,5:1 18
19 Pathogenesis Premature migration of the gut into the abdominal cavity after the periode of extracoelomic growth (compression theory) Abnormal lung development/hypoplasia which permits the herniation of the gut into the chest Problem with phrenic nerve development leading to incomplete formation of the diaphragm Delayed closure of the pleuroperitoneal fold Prenatal Diagnosis USG MRI 19
20 Clinical Manifestation Majority: Severe respiratory distress (first hour of life) Scaphoid abdomen Apparent dextrocardia (since 90% CHD are on the left) Decreased breath sound over the involve chest Delayed presentation: Vomiting intestinal obstuction, gastric volvulus Mild respiratory simptom Occasionally: Ischemia incarceration of the intestine Sepsis Cardiorespiratory collapse Unrecognized: Sudden death Initial Management Avoiding bag and mask ventilation minimize gaseous distention of the stomach and intestines, which would further compromise lung function Prompt endotracheal intubation Nasogastric tube passed and placed then chest x ray was done 20
21 Diagnosis post natal Radiology: CXR lateral: intestine passing the through posterior portion of diaphragm USG & Fluoroscopy distuingish true hernia and evantratio Barrium follow through CT Scan Echocardiography pulmonal hypertension Treatment Preoperative stabilization: Intubated Mechanical ventilation : Peak inspiratory pressure <25mmHg Sedation allow coordination of the patient with the ventilator Operative: Generally shift from emergency repair to a delayed approach after stabilization of the infant 21
22 Prognosis Mortality rate after birth: 7-10% Poor prognosis: Large anomaly Symptoms occur in first 24 hours Severe respiratory distress Recurency: 20-40% in first year 44 22
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