Management Considerations For Respiratory Complications In Those With Mucolipidosis Type Ii (I-Cell Disease)

SESSION TITLE: Medical Student/Resident Genetic and Developmental Disorders Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: Mucolipidosis type II (I-cell disease) is an autosomal recessive lysosomal storage disease resulting from N-acetylglucosamine-1-phosphotransferese deficiency. Affected children have multiple skeletal abnormalities and recurrent respiratory infections [1, 2]. Despite evidence for respiratory compromise in affected children, there is a paucity of literature on the management of respiratory complications. We present a patient with I-cell disease admitted for respiratory failure resulting from pneumonia. CASE PRESENTATION: A 20 month-old female with I-cell disease presented with four days of fever, productive cough, and respiratory difficulties. Vital signs were remarkable for a fever of 40.6 Celsius and hypoxia with an oxygen saturation of 73%. Patient required 25 L/min of supplemental oxygen via high-flow nasal cannula (HFNC) to maintain an adequate saturation. Physical exam revealed an infant in severe respiratory distress with diffuse rhonchi. Work-up was positive for Influenza B and a chest radiograph (CXR) revealed patchy left lung opacities [Figure 1A]. Patient started on ceftriaxone, fluids, and oseltamivir. Over the next 48 hours she clinically improved and was weaned to 2 L of oxygen. However, on hospital day three, the patient developed intermittent fevers, and increased work of breathing requiring re-initiation of HFNC. Repeat CXR demonstrated worsening opacification [Figure 1B]. Given these findings the patient’s antibiotic regimen was broadened to vancomycin and cefepime to provide coverage for Pseudomonas spp. The patient improved rapidly and was weaned off of supplemental oxygen. She subsequently was discharged home with oral clindamycin and levofloxacin. DISCUSSION: Recurrent respiratory infections are common in patients with I-cell disease. Factors such as increased secretions and abnormal airway architecture contribute to the chronic sino-pulmonary infections, poor bacterial clearance, and respiratory compromise [2]. An autopsy case performed on a patient with I-cell disease identified the presence of aberrant type II pneumocytes, which suggests that there may be an inherent immune dysregulation in those with I-cell disease [3]. This inherent immune dysregulation may be why those with I-cell disease are predisposed to complicated, multi-drug resistant (MDR) pulmonary infections. CONCLUSIONS: Clinicians caring for patients with I-cell disease who are admitted for pneumonia should consider early initiation of broad-spectrum empiric antibiotics, specifically with coverage for Pseudomonas spp. Further studies are needed to clarify if patients with I-cell disease have impaired respiratory immunity, which augments the growth of MDR bacteria in the lung. Reference #1: Faverio P, Stainer A, De Giacomi F, Gasperini S, Motta S, Canonico F, Pieruzzi F, Monzani A, Pesci A, Biondi A. Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases. Int J Mol Sci. 2019 Jan 15;20(2). pii: E327 Reference #2: Mallen J, Highstein M, Smith L, Cheng J. Airway management considerations in children with I-cell disease. Int J Pediatr Otorhinolaryngol. 2015 May;79(5):760-2 Reference #3: Sato Y, Kobayashi H, Sato S, Shimada Y, Fukuda T, Eto Y, Ohashi T, Ida H. Systemic accumulation of undigested lysosomal metabolites in an autopsy case of mucolipidosis type II; autophagic dysfunction in cardiomyocyte. Mol Genet Metab. 2014 Jul;112(3):224-8. DISCLOSURES: No relevant relationships by Ethan Karle, source=Web Response No relevant relationships by Armin Krvavac, source=Web Response No relevant relationships by Michael Nance, source=Web Response No relevant relationships by Tarang Patel, source=Web Response