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Case 56 : คำถามประจำเดือน กันยายน 2561 ข้อ 1
A female term newborn developed dyspnea immediately since birth. She was born by vacuum extraction due to poor maternal effort. Her APGAR score were 5 and 8 at first and fifth minute, respectively. She was intubated at labor room and transferred to NICU. Physical examination revealed left chest wall hypotrophy, severe subcostal and intercostal retraction, decreased movement of left chest wall, and also decreased breath sound at left lung. No any dysmorphic features were detected. She was ventilated with HFOV and developed severe PPHN at 12 hours after birth and later died on third day of life. CXR as shown below.
Q:
What is the most likely diagnosis in this patient?
Ans:
Congenital unilateral agenesis of left thoracic cage with pulmonary hypoplasia
Details: CXR showed multiple absent of ribs at left chest wall and the rest of them also malformed (fused and fan-shaped). Multiple malformation of thoracic vertebral bodies (hemivertebrae) and slightly scoliosis which convex to right side. Marked elevation of left hemidiaphragm and small left lung volume. Mediastinum was shifted to the right hemithorax.
Unilateral agenesis of thoracic cage is a rare congenital malformation of chest wall. There are various degree of vertebral and rib anomalies that result in thoracic cage deformity and adverse effects on thoracic growth and function. The inability of the thorax to support normal respiration or lung growth leads to thoracic insufficiency. In case of multiple ribs agenesis like this patient, lung herniation and paradoxical respiratory movements are always present. Lethality in these entities is usually due to thoracic underdevelopment and pulmonary hypoplasia.