CHEST Guidelines-An-8-Month-Old-Infant-With-Respiratory-Failure-Aft

An-8-Month-Old-Infant-With-Respiratory-Failure-Aft

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An 8-month-old previously healthy infant presented with altered mental status following a fall from a bed that resulted in a head injury. Despite standard respiratory management, including intubation and use of CPAP with NAVA support, the infant experienced persistent respiratory issues characterized by hypercapnia and bradypnea, particularly during sleep, necessitating repeated reintubations. Diagnostic evaluations, including CT and MRI scans, revealed subarachnoid hemorrhage and bilateral foci of T2 hyperintensities in the dorsal medulla, indicating cytotoxic edema but no infection, genetic mutation, or metabolic disorder was discovered.<br /><br />This clinical scenario was diagnosed as acquired central alveolar hypoventilation, believed to result from medulla injury due to the fall. Unlike congenital central hypoventilation, which is linked to PHOX2B gene mutation, the acquired form is rarer and often occurs in adults due to stroke or encephalitis. The diagnosis was supported by MRI results and normal PHOX2B sequencing. Despite multiple extubation attempts, the infant required a tracheostomy and long-term ventilatory support during sleep.<br /><br />The infant was eventually discharged to home care after showing no neurocognitive or developmental deficits, apart from the need for overnight ventilator support. The case highlights the challenges in diagnosing and managing central hypoventilation, especially when injury severity may not correlate with functional deficits. The treatment approach involved recognizing symptoms like non-distressful hypercapnia and utilizing appropriate ventilatory support, with a focus on the unique pathophysiology impacting NAVA effectiveness. This case is reportedly the youngest known instance of acquired central hypoventilation, contrasting with more document cases in adults and congenital presentations linked to genetic mutations.

Keywords

infant

head injury

central alveolar hypoventilation

medulla injury

ventilatory support

hypercapnia

tracheostomy

subarachnoid hemorrhage

NAVA

PHOX2B gene