Journal: Advances in Medicine and Engineering Interdisciplinary Research DOI: 10.32629/ameir.v4i3.5468
Abstract
Multiminicores disease is a hereditary neuromuscular disorder characterized by the presence of multiple 'nuclei' on muscle biopsy and clinical features of a congenital myopathy. The present case concerns a 10-year-old patient, diagnosed with multiminicores disease, tracheostomized since she was seven due to failed weaning and muscle weakness. The patient was referred to the Department of Cardio-respiratory Rehabilitation of the Clínicas Hospital from the National University of Asunción, presenting in her first evaluation chronic oxygen dependence (for more than 12 months), weak and non-functional cough with cough peak flow less than 160 L/m, chronic respiratory failure and hypercapnia (52 mmHg CO2ET). We did the follow-up in order to the Respiratory Rehabilitation guidelines contemplated in the Project for the evaluation, treatment and follow-up of patients with Neuromuscular Diseases, which was approved by the Superior Council of the Medical Sciences School from the National University of Asunción, these guidelines are based on scientific studies and publications done by Dr. John Bach (Rudgers University, Newart, New Jersey-USA) and his collaborating team from the Ibero-American Group for Respiratory Care in Neuromuscular Diseases. As a result, the patient was successfully decannulated, in an outpatient clinic, without hemodynamic decompensations, with excellent tolerance and without the requirement of hospital admissions.
Keywords
neuromuscular disease; tracheotomy; respiratory rehabilitation; decannulation; multicores disease
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[13] Torres R, Kuo CY, Vera R, Espinoza S, Romero JE. Entrenamiento muscular en pacientes traqueotomizados: A propósito de un caso. Neumol pediátr. 2007;5(2):61-63. URL.
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[18] Servera E, Perez D, Gomez-Merino E, Marin J, Polkey M. Respiratory care units for non-invasive mechanical ventilation in motor neurone disease. Thorax. 2000;55(4):345-346. http://dx.doi.org/10.1136/thorax.55.4.345a.
[2] Vega-Briceño L, Contreras I, Prado F, Méndez M, Sánchez I. Evaluación respiratoria de la enfermedad neuromuscular en niños. Neumol pediátr. 2017;2(1):6-10. URL.
[3] Salinas P, Prado F, Pinchak C, Herrero MV, Giménez G, García C, et al. Cuidados respiratorios para pacientes con enfermedades neuromusculares. Neumol Pediatr. 2017;12(3):103-113. URL.
[4] Bach JR, Saporito LR. Criteria for extubation and tracheostomy tube removal for patients with ventilatory failure a different approach to weaning. Chest. 1996;110(6):1566-1571. https://doi.org/10.1378/chest.110.6.1566.
[5] Pinchak C, Salinas P, Prado F, Herrero M, Giménez G, García C, et al. Actuaización en el manejo respiratorio de pacientes con enfermedades neuromusculares. Arch Pediatr Urug. 2018; 89(1):40-51. http://dx.doi.org/10.31134/ap.89.1.8.
[6] Giménez G, Prado F, Herrero M, Bach J. Alternativas de tratamiento en pacientes con patologías neuromusculares y afecciones respiratorias. An Fac Cienc Méd. 2017;50(2):79-88. https://doi.org/10.18004/anales/2017.050(02)79-088.
[7] Bach JR, Giménez GC, Chiou M. Mechanical In-Exsufflation-Expiratory Fows as Indication for Tracheostomy Tube Decannuation: Case Studies. Am J Phys Med Rehabil. 2019;98(3):18-20. https://doi.org/10.1097/phm.0000000000000999.
[8] Torres-Castro R, Monge G, Vera R, Puppo H, Céspedes J, Vilaró J. Esrategias terapéuticas para aumentar la eficacia de la tos en pacientes con enfermedades neuromusculares. Rev méd Chile. 2014;142(2):238-245. http://dx.doi.org/10.4067/S0034-98872014000200013.
[9] Servera E, Sancho J, Zafra MJ. Tos y enfermedades neuromusculares. Manejo no invasivo de las secreciones respiratorias. Arch Bronconeumol. 2003;39(9):418-427.URL.
[10] Bach JR, Alba AS, Saporito LR. Intermittent positive pressure ventilation via the mouth as an aternative to tracheostomy for 257 ventiator users. Chest. 1993;103(1):82-174. https://doi.org/10.1378/chest.103.1.174.
[11] Bach JR, Alba AS. Management of chronic alveolar hipoventilation by nasal ventilation. Chest. 1990; 97(1):52-57. https://doi.org/10.1378/chest.97.1.52.
[12] Bach JR, Niranjan V, Weaver B. Spinal muscular atrophy type 1: A noninvasive respiratory management approach. Chest. 2000 Apr; 117(4):1100-1105. https://doi.org/10.1378/chest.117.4.1100.
[13] Torres R, Kuo CY, Vera R, Espinoza S, Romero JE. Entrenamiento muscular en pacientes traqueotomizados: A propósito de un caso. Neumol pediátr. 2007;5(2):61-63. URL.
[14] Elpern EH, Scott MG, Petro L, Ries MH. Pulmonary aspiration in mechanically ventilated patients with tracheostomies. Chest. 1994;105(2):563-566. https://doi.org/10.1378/chest.105.2.563.
[15] Heffner JE. Timing of tracheotomy in mechanically ventilated patients. Am Rev Respir Dis. 1993;147(3):768-771. https://doi.org/10.1164/ajrccm/147.3.768.
[16] Ishikawa Y. Manual for the Care of Patients Using Noninvasive Ventilation in Neuromuscular disorders. Japan Planning Center Inc., Japan. 2005.
[17] Servera E, Sancho J, Zafra MJ, Catalá A, Vergara P, Marín J. Alternatives to endotracheal intubation for patients with neuromuscular diseases. Am J Phys Med Rehabil. 2005;84(11):851-857. https://doi.org/10.1097/01.phm.0000184097.17189.93.
[18] Servera E, Perez D, Gomez-Merino E, Marin J, Polkey M. Respiratory care units for non-invasive mechanical ventilation in motor neurone disease. Thorax. 2000;55(4):345-346. http://dx.doi.org/10.1136/thorax.55.4.345a.
Copyright © 2026 Gloria Concepción Giménez, Estefanía Maidana, Shirley Galeano, Débora Núñez, Francisco Prado Antlagic, John Bach
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