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A Novel Method for Noninvasive Ventilation in Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD-1) FREE TO VIEW

Shirali Patel, DO; Kimberly Watts, MD; Varsha Gharpure, MD
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Advocate Lutheran General Hospital, Park Ridge, IL

Chest. 2014;146(4_MeetingAbstracts):693A. doi:10.1378/chest.1990247
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SESSION TITLE: Pediatric Student/Resident Case Report Posters

SESSION TYPE: Medical Student/Resident Case Report

PRESENTED ON: Tuesday, October 28, 2014 at 01:30 PM - 02:30 PM

INTRODUCTION: Spinal muscular atrophy (SMA) with respiratory distress type 1 (SMARD-1) is a rare and fatal autosomal recessive disorder with only 60 case reports to date1. It is clinically and genetically distinct from classic SMA due to early respiratory distress from diaphragmatic paralysis, symmetrical distal muscle weakness, peripheral sensory neuropathy and autonomic nerve dysfunction. We present the first case of SMARD-1 in which the nasal NeoTech RAM Cannula® was utilized for providing non-invasive mechanical ventilation when other mask devices were ineffective.

CASE PRESENTATION: During a routine physical, a full term four-month-old female was noted to have poor weight gain from several weeks of poor oral intake, a weak cry, distal hypotonia and muscle atrophy as well as an elevated right diaphragm on chest X-ray (Figure 1). Chest ultrasound confirmed paralysis of the right diaphragm. Hypotonia panel (SMA, Myotonic Dystrophy, Prader-Willi Syndrome, Maternal UPD 14, Angelman Syndrome) was negative. Microarray testing was normal. She was diagnosed with SMARD-1. Initially she was maintained on oxygen via nasal cannula, however on day 11, she was transferred to our pediatric intensive care unit for respiratory distress. She was placed on non-invasive mechanical ventilation using RAM Cannula®. Attempts to try the Pixie, MiniMe® and smaller mask for home nighttime non-invasive ventilation resulted in rapid desaturation. She was ventilated using RAM Cannula® for 17 days during which she developed progressive compensated respiratory acidosis. During a scheduled muscle biopsy, infant was ventilated via bag-valve-mask but postoperatively was intubated for respiratory failure. After inconclusive muscle biopsy results, parents opted for palliative care and withdrawal of invasive life support. She passed away shortly after.

DISCUSSION: A specific SMARD-1 mutation was identified in only 45% of cases and is pending in this case2. Early recognition and diagnosis is crucial for helping families make an informed decision about long-term care, as all patients eventually require mechanical ventilation1.

CONCLUSIONS: RAM Cannula® has been increasingly used in neonates with respiratory disease but data beyond the neonatal period is limited. In this case, it was well tolerated without any skin breakdown and allowed parental participation in daily care. Parents expressed gratitude for the quality of interaction they had with their daughter while coming to terms with the diagnosis. Use of RAM Cannula® in younger infants with neuromuscular diseases and parental perception on quality of life compared to existing masked devices needs to be further evaluated.

Reference #1: Eckart M, et al. “The Natural Course of Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1).” Pediatrics 129.1 (2012): E148-e156.

Reference #2: Grohmann K, et al. “Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1).” Annals of Neurology 54.6 (2003): 719-724.

DISCLOSURE: The following authors have nothing to disclose: Shirali Patel, Kimberly Watts, Varsha Gharpure

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