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OCULO-AURICULO-VERTEBRAL SPECTRUM ASSOCIATED WITH ABERRANT SUBCLAVIAN ARTERY IN AN INFANT WITH RECURRENT RESPIRATORY
Amanda Rosa Pereira1, Carlos Henrique Paiva Grangeiro1, Larissa Cerqueira Pereira1
1Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brazil.
Insights
Craniofacial microsomia can present with rare but severe complications like aberrant right subclavian artery causing respiratory distress. Early identification and surgical correction are crucial for infant outcomes.
Area of Science:
- Pediatrics
- Medical Genetics
- Cardiology
Background:
- Craniofacial microsomia (CFM) is a congenital condition with variable presentation.
- Associated extracranial anomalies are common but can be overlooked.
- Aberrant right subclavian artery (ARSA) is a rare vascular anomaly.
Observation:
- A case report of an infant with right-sided CFM, facial dysmorphisms, and thoracic hemivertebrae.
- The infant experienced recurrent respiratory distress, stridor, and feeding issues despite interventions.
- Diagnostic investigation revealed esophageal and tracheal compression by an ARSA.
Findings:
- Surgical correction of the aberrant right subclavian artery resolved the respiratory symptoms.
- This highlights the importance of investigating vascular anomalies in CFM with respiratory complaints.
- CFM encompasses a spectrum of anomalies, including rarer, life-threatening ones.
Implications:
- Pediatricians should consider ARSA in infants with CFM and unexplained respiratory distress.
- Prompt diagnosis and management of ARSA can prevent significant morbidity and mortality.
- Multidisciplinary follow-up is essential for comprehensive rehabilitation in these complex cases.
Objective:
To describe an infant with craniofacial microsomia and recurrent respiratory distress associated with aberrant right subclavian artery in order to review its most frequent congenital anomalies and alert the pediatrician to its rarer and more severe complications.
Case Description:
This case report involves an 18-month-old male infant, only son of non-consanguineous parents. At birth, the child presented craniofacial dysmorphisms (facial asymmetry, maxillary and mandibular hypoplasia, macrostomia, grade 3 microtia, and accessory preauricular tag) restricted to the right side of the face. Additional tests showed asymmetric hypoplasia of facial structures and thoracic hemivertebrae. No cytogenetic or cytogenomic abnormalities were identified. The patient progressed to several episodes of respiratory distress, stridor, and nausea, even after undergoing gastrostomy and tracheostomy in the neonatal period. Investigation guided by respiratory symptoms identified compression of the esophagus and trachea by an aberrant right subclavian artery. After surgical correction of this anomaly, the infant has not presented respiratory symptoms and remains under multidisciplinary follow-up, seeking rehabilitation.
Comments:
Craniofacial microsomia presents a wide phenotypic variability compared to both craniofacial and extracraniofacial malformations. The latter, similarly to the aberrant right subclavian artery, is rarer and associated with morbidity and mortality. The main contribution of this case report was the identification of a rare anomaly, integrating a set of malformations of a relatively common condition, responsible for a very frequent complaint in pediatric care.
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