2018, Number 1
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Revista Cubana de Anestesiología y Reanimación 2018; 17 (1)
Werdnig-Hoffmann disease
García EL
Language: Spanish
References: 12
Page: 1-8
PDF size: 106.53 Kb.
ABSTRACT
Introduction: Werdnig-Hoffmann disease or spinal atrophy type I is part of the
spinal muscular atrophies and the most serious of the three clinical forms in
existence. It is an autosomal recessive hereditary condition, with no treatment,
progressive in nature and usually culminates with the death of the patient between
the first and second year of life.
Objective: To describe the behavior of the anatomically difficult airway identified in a
patient with Werdnig-Hoffmann disease operated for right renal lithiasis.
Clinical case: Male patient at age 39, higher education level, with a diagnosis of
obstructive lithiasis in the right kidney, proposed to be performed a percutaneous
nephrolithotomy. The exams in the anesthesia consultation provided diagnosis of an
anatomically difficult airway. Despite having the cooperation of the patient, trained
personnel, necessary equipment and proceeding according to the algorithms
recommended in the literature, a surgical approach was needed to perform the
operation. The proposed surgical procedure was carried out without complications and
the patient left the operating room awake and conscious.
Conclusion: In case that another surgical intervention is required, it would be
necessary to initiate intubation by optical fibroscopy in order to avoid edema of the
respiratory tract. In case a safe airway is not obtained by this method, the patient
would need a surgical airway.
REFERENCES
Scheffer H. Spinal muscular atrophy. Methods Mol Med. 2004;92:343-58.
Padrón-Arredondo G, López-Gómez L. Atrofia muscular espinal infantil tipo I. Presentación de un caso presuntivo y revisión de la literatura. Salud en Tabasco. 2013;13(3):700-03.
Palmer-Morales Y, Pacheco-Flores G, Ames-GY. Enfermedad de Werdnig-Hofmann. Dos casos clínicos. Rev Med Ins tMex Seguro Soc. 2015;48(3):317-19.
Acevedo-López AM, Zaldívar-Vaillant T, Moreno F, Hernández-Chico C. Atrofia muscular espinal infantil. Introducción del diagnóstico molecular en Cuba. Rev Cubana Obstet Ginecol. 1999;25(2):128-34.
Practice guidelines for the management of the difficult airway. American Society of Anesthesiologist Task Force on Management of the Difficult Airway. Anesthesiology. 2015;78:597-602.
Petrone A, Pavone M, Testa MB, Petreschi F, Bertini E, Cutrera R. Invasive ventilation in pacient with spinal muscular atrophy types 1 and 2. Am J Phys Med Rehabil. 2014;86(3):216-21.
Tiberiu E. Difficult airway management practice patterns among anesthesiologists practicing in the US: Have we made any progress? J Clin Anesth. 2014;15:418.
Rosenblatt WH. Practice patterns in managing the difficult airwayby anesthesiologists in the US. Anesth Analg. 2015;87:153-7.
Bach JR, Niranjan V, Weaver B. Spinal muscularatrophy type 1: a noninvasive respiratory management approach. Chest. 2015;117(4):1100-05.
Appleton RE, Hubner C, Grohmann K, Varon R. Congenital peripheral neuropathy presenting as apnea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1). Dev Med Child Neurol. 2014;46:576.
Feng J, Toshiyuki Y. Prenatal diagnosis of Werdnig-Hoffmann disease in China. Chin Med J. 2012;116:673-75.
Cheliout-Heraut F, Barois A, Urtizberea A, Viollet L, Estournet-MathiaudB. Evoked potentials in spinal muscular atrophy. J Child Neurol. 2012;18:383-90.