CPT1A enzyme deficiency is a rare metabolic disorder of mitochondrial fatty acid oxidation, with late manifestations during infancy or childhood, including hypoketotic hypoglycemia and hepatic encephalopathy. Newborn screening in several countries include pre-symptomatic detection of CPT1A deficiency, which helps in early diagnosis and better management of the disorder. We report here a case of CPT1A deficiency, detected pre-symptomatically with newborn screening, which was confirmed by exome sequencing to be a novel c. 232G>A variant in exon 3 of CPT1A gene. This is a rare variant of uncertain significance which has not been reported in literature.
Stridor is a common complaint in neonates. Double aortic arch (DAA) is a congenital anomaly of the aortic arch. It is the most common type of complete vascular ring. When it occurs, the connected segment of the aortic arch and its branches encircle the trachea and esophagus, leading to symptoms related to these two structures. Association with respiratory distress mandates early flexible bronchoscopic examination of the airway. We report here the diagnosis and management of a neonate with double aortic arch that presented as stridor at birth. Persistence of stridor after surgery and its management was highlighted.
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