[05.46] Common Congenital Respiratory Disorders V2.1.pdf

Nasal Cavity

What part of the Upper Respiratory Tract is listed first in Figure 1?

Lungs

What part of the Lower Respiratory Tract is listed last in Figure 1?

From nose to the trachea, bronchi to the alveoli

What anatomical range do congenital respiratory disorders cover?

Six “trees”

How many "trees" are used in the systematic approach to discussing congenital respiratory disorders?

Bronchial, Arterial, Venous, Lymphatic

Name the four categories of "trees" of the lung.

Bronchial venous drainage

Which specific drainage system has no known abnormalities mentioned?

Heart and great vessels, Chest wall, Abdomen

Name the three non-lung areas where malformations are also noted.

Antenatal, Newborn, Later childhood, Adulthood

Name one age group where the presentation of congenital lung disease may differ.

Routine fetal anomaly scan or ultrasound

How are antenatal anomalies typically detected?

Oligohydramnios

What is the term for decreased amniotic fluid?

Polyhydramnios

What is the term for increased amniotic fluid?

Short limbs

What presentation may be associated with skeletal dysplasia during the antenatal period?

Intrathoracic mass, Pleural effusion, Fetal hydrops

Name two presentations of congenital lung disease during the antenatal period.

Ascites

What fluid accumulation is visible alongside pleural effusion in Figure 2?

Microcystic adenomatoid malformation

Name one SOLID intrathoracic lesion listed.

Pulmonary sequestration

Name one SOLID intrathoracic lesion that does not function in gas exchange.

Right-sided diaphragmatic hernia

What diaphragmatic lesion is classified as a SOLID lesion?

Tracheal/laryngeal atresia

Name one SOLID lesion involving the upper airway structure.

Macrocystic adenomatoid malformations

Name one CYSTIC intrathoracic lesion listed.

Congenital diaphragmatic hernia

What common diaphragmatic lesion is classified as a CYSTIC lesion?

Bronchogenic cyst

Name one type of foregut cyst classified as a CYSTIC lesion.

Mediastinal encephalocele

Name one CYSTIC lesion involving the mediastinum.

Pleural and pericardial effusions

What two effusions are listed as CYSTIC lesions?

Large cysts, small cysts, microcystic

What are the three types of cystic lesions shown in Figure 3?

Respiratory distress, Stridor

What are two usual presentations of congenital lung diseases in the newborn period?

Bubbly secretions in mouth, Failure to pass nasogastric tube

Name two symptoms related to the airway or feeding in newborn period disorders.

Tachypnea, Cyanosis, Grunting, Presence of retractions

Name two manifestations of respiratory distress in the newborn.

Early or late onset

What describes the potential onset timing of respiratory distress in the newborn period?

Choanal atresia

What is the most common congenital anomaly of the nose?

~1/7,000 live births

What is the approximate frequency of choanal atresia?

CHARGE syndrome

What syndrome must always be considered with choanal atresia?

Coloboma of the eye, Heart disease

Name two components of CHARGE syndrome (C and H).

Atresia choanae

What specific anatomical defect is denoted by the A in CHARGE syndrome?

Retarded growth and development and/or CNS anomalies

What does the R in CHARGE syndrome stand for?

Genital anomalies and/or hypogonadism

What does the G in CHARGE syndrome stand for?

Ear anomalies and/or deafness

What does the E in CHARGE syndrome stand for?

Difficulty with mouth breathing

What is a clinical presentation of bilateral choanal atresia?

Vigorous attempts to inspire

What action characterizes the breathing of a child with bilateral choanal atresia, often leading to cyanosis?

Crying

What relieves cyanosis in an infant with bilateral choanal atresia?

Unilateral nasal discharge or persistent nasal obstruction

What is a presentation of unilateral choanal atresia, besides being asymptomatic?

Inability to pass a firm catheter through each nostril

What confirms the diagnosis of choanal atresia using a catheter?

Fiberoptic rhinoscopy or High-resolution CT scan

Name one method, other than catheter passage, used to diagnose choanal atresia.

Pyriform aperture stenosis

What condition refers to a bony abnormality of the anterior nasal aperture?

CT scan of the nose

What is the diagnostic method for pyriform aperture stenosis?

Dermoids, gliomas, and encephaloceles

Name two examples of congenital midline nasal masses.

Intranasally or extranasally

Where can congenital midline nasal masses present?

CT scan or MRI

How are congenital midline nasal masses diagnosed?

Tracheal agenesis and atresia

What rare tracheal anomalies are incompatible with life?

Agenesis

What term describes the complete absence of trachea formation?

Atresis

What term describes the narrowing of the trachea?

Laryngeal conditions or Tracheoesophageal fistulas

Name one abnormality associated with tracheal agenesis and atresia.

Bronchoscopy in newborn

How are tracheal agenesis and atresia diagnosed in newborns with severe respiratory distress?

Incompatible with life

What is the prognosis of Tracheal Agenesis due to the absence of cartilages?

Tracheal Malacia

What phenotype involves the trachea appearing wavy or flexible, as seen in Figure 8?

Tracheal Stenosis

What phenotype involves the trachea being narrowed, as seen in Figure 8?

Bochdalek

Which type of Congenital Diaphragmatic Hernia (CDH) is more common?

Communication between the abdominal and thoracic cavities

What anatomical defect defines CDH?

Respiratory Distress

What is the cardinal sign of babies with CDH?

Honeymoon period

What is the term for the relatively stable period of up to 48 hours before CDH symptoms may manifest?

Vomiting

What symptom may occur in CDH patients beyond the neonatal period due to intestinal obstruction?

Chest X-Ray

How is CDH diagnosed?

Cystic lucencies on the left hemithorax

What X-ray finding is noted for CDH in Figure 10?

Shifting of the mediastinal structures and the heart to the contralateral side

What displacement is caused by CDH on X-ray?

Congenital Lobar Emphysema

What is Congenital Large Hyperlucent Lobe also known as?

Hyperresonance in affected hemothorax

What physical exam finding is noted in the chest of a patient with Congenital Large Hyperlucent Lobe?

Diminished breath sounds

What auditory finding is noted over the affected area in Congenital Large Hyperlucent Lobe?

Deviation of mediastinal structures to the contralateral side

What mediastinal finding is shared between CDH and Congenital Large Hyperlucent Lobe?

Obstruction or narrowing in the airway

What causes stridor?

Monophonic noise

What is the predominant sound type of stridor?

Inspiratory phase stridor

What stridor type is due to extrathoracic lesions of congenital laryngeal anomalies?

Expiratory phase stridor or wheezing

What stridor type is due to intrathoracic lesions?

Laryngomalacia

What is the most common cause of stridor?

60%

Laryngomalacia comprises what percentage of congenital laryngeal anomalies in children?

Low-pitched, inspiratory stridor

What is the classic sound description of Laryngomalacia stridor?

Supine position

Which position makes laryngomalacia stridor more prominent?

Prone position

Which position makes laryngomalacia stridor less prominent?

Collapse of supraglottic structures inward during inspiration

What causes the stridor in Laryngomalacia?

First 2 weeks of life

When do Laryngomalacia symptoms typically appear?

6 months

Until what age do Laryngomalacia symptoms typically increase in severity?

Flexible laryngoscopy

How is Laryngomalacia diagnosed?

Short aryepiglottic (A/E) folds

Name one endoscopic finding in Laryngomalacia shown in Figure 13.

Omega-shaped epiglottis

What is the shape of the epiglottis often seen in Laryngomalacia?

Congenital Subglottic Stenosis

What is the 2nd most common cause of stridor?

Biphasic or primarily inspiratory

What is the stridor characteristic of Congenital Subglottic Stenosis?

Recurrent or persistent croup

Congenital Subglottic Stenosis is quite typical in what condition?

Vocal Cord Paralysis

What is the 3rd most common congenital laryngeal anomaly?

Congenital central lesions

What category of lesions is Vocal Cord Paralysis often associated with?

Myelominingocele, Arnold-Chiari malformation, Hydrocephalus

Name two specific congenital central lesions associated with Vocal Cord Paralysis.

High-pitched inspiratory stridor

What is a key presentation of bilateral vocal cord paralysis?

Inspiratory cry

What specific cry sound is associated with bilateral vocal cord paralysis?

Aspiration, Coughing episodes, Choking

Name two complications a child is prone to with unilateral vocal cord paralysis.

Abducted

How are normal vocal cords positioned during respiration?

Glottic in origin

Where do most congenital laryngeal webs originate?

Direct laryngoscopy

How are congenital laryngeal webs and atresia diagnosed?

First two months of life

When do symptoms of airway obstruction typically occur in Congenital Subglottic Hemangioma?

Biphasic but usually more prominent during inspiration

What is the stridor characteristic of Congenital Subglottic Hemangioma?

Vascular ring

What anomaly results from abnormal development of the aortic arch complex, causing stridor?

3 months of age

When do Vascular Ring symptoms typically become symptomatic?

Expiratory wheezing

What type of wheezing/stridor is caused by Vascular Rings?

Cough, Dysphagia

Name one non-wheezing symptom of Vascular Ring.