Critical Care: Student/Resident Case Report Poster - Critical Care I |

A Case of Unusually Fluctuating Hypercarbia: When the Brain Fails to Sync With the Lungs FREE TO VIEW

Arunima Bera, MD; Shipra Singh, MD; Danielle Goetz, MD
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Women's and Children's Hospital of Buffalo, Buffalo, NY

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;150(4_S):378A. doi:10.1016/j.chest.2016.08.391
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SESSION TITLE: Student/Resident Case Report Poster - Critical Care I

SESSION TYPE: Student/Resident Case Report Poster

PRESENTED ON: Tuesday, October 25, 2016 at 01:30 PM - 02:30 PM

INTRODUCTION: Congenital central hypoventilation syndrome(CCHS) is a complex genetic disorder characterised by alveolar hypoventilation primarily due to autonomic dysregulation. Polyalanine Repeat Mutations(PARMs) of the PHOX2B gene(key transcriptional activator in developing the autonomic nervous system) account for disease phenotype. This condition has autosomal dominant inheritance. In this case report, we describe a case of CCHS whose robust management is demonstrated via a multidisciplinary approach.

CASE PRESENTATION: 9 month old female born at 39 weeks gestation via a vaginal delivery to a 23 year old mother who is otherwise healthy. The mother has another two year old daughter with known CCHS; both siblings have the same biological father who also has CCHS. The patient’s initial physical exam was unremarkable. Her Apgars were 9,9 however at one hour of life, she developed apnea and hypoxemia which warranted intubation in the NICU. Her initial arterial blood gas showed a pH of 7.15, pCO2 of 91, PO2 of 92 with a base excess of -1.5. Her initial chest X-ray was normal. Serial blood gases revealed a pattern of hypercarbia while asleep and during feeds, and improved when awake. Her white blood count, electrolytes and urine toxicology were unremarkable. 24 hours post birth, she developed bilious emesis and abdominal distention that prompted an abdominal series. It revealed megacolon that was suspicious for Hirschsprung’s disease and was subsequently confirmed with a suction rectal biopsy. The patient received a surgical resection for the latter and ultimately a tracheostomy on day 39 of life. The patient was transferred to the PICU on day 60 of life for continual medical care. She became dependent on 24 hours of ventilatory support. She would often have episodes of desaturations and reflex bradycardia that would resolve with bag-mask ventilation at bedside.

DISCUSSION: This case is unique in that the patient’s intrinsic lung function was normal, however due to her inherited dysautonomia, she had episodes of extreme hypercarbia that could potentially be life-threatening if not corrected urgently. In addition, tumors of neural crest origin and cardiac arrhythmias have also been reported, which our patient did not have on Holter monitoring.

CONCLUSIONS: These patients need lifelong ventilatory support and may transition from mechanical ventilation to non-invasive modes such as BiPAP later in childhood. Diaphragmatic pacing has also been trialed with encouraging results. Additionally, the presence of a strong social network is vital in augmenting quality of life. The overall prognosis is good with close follow up amongst the healthcare teams.

Reference #1: Weese-Mayer, Debra et al. “An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome.” Am J Respir Crit Care Med 181 (2010): 626-44

Reference #2: Chen, Maida Lynn. “Congenital Central Hypoventilation Syndrome: Not Just Another Rare Disorder.” PAEDIATRIC RESPIRATORY REVIEWS (2004) 5, 182-189

DISCLOSURE: The following authors have nothing to disclose: Arunima Bera, Shipra Singh, Danielle Goetz

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