2014, Number 1
<< Back Next >>
Rev Cubana Neurol Neurocir 2014; 4 (1)
Sleep apnea syndrome associated to congenital structural myopathy
Castillo OR, Alfonso DO, Viera ÁD, García GRJ, Aguilar FL
Language: Spanish
References: 12
Page: 57-61
PDF size: 334.72 Kb.
ABSTRACT
Introduction: Without doubts, the sleep disorders are source of negative manifestations in the affected persons and among the sleep disorders the more studied are the sleep apnea syndromes and therefore their repercussion in affected people is enough known. Among the diseases that may be causes of respiratory problems during sleep are those that affect the neuromuscular system and one of the diagnostic possibilities is the group of myopathies. In these diseases, the breathing disorders during sleep are frequent; however, these diseases don´t have high prevalence in the population. The congenital myopathies are considered as rare diseases.
Clinical case: Here are described the clinical manifestations, the results of the tests and the clinical evolution of a child with only two years, which was diagnosed a sleep apnea syndrome associated to congenital structural polymyopathy.
Conclusions: Always should be considered the possibility of association of neuromuscular disorders and especially congenital myopathies, in patients with sleep apnea syndrome, independently of the difficult in make the diagnostic and infrequent presentation. Besides, are remarkable some difficulties in the management and definitive diagnostic in cases with congenital myopathies, principally in development countries.
REFERENCES
Primhak R, R Kingshott. Sleep physiology and sleep–disordered breathing: the essentials. Arch Dis Child. 2012;97:54–8.
Alves Rosana SC, Resende MB, Skomro RP, Souza FJ, Reed UC. Sleep and neuromuscular disorders in children. Sleep Medicine Reviews. 2009;13:133–48.
Amburgey K, McNamara N, Bennett LR, McCormick ME, Acsadi G, Dowling JJ. Prevalence of Congenital Myopathies in a Representative Pediatric United States Population. Ann Neurol. 2011; 70:662–5.
North KN, Laing NG, Wallgren–Pettersson C. Nemaline Myopathy: current concepts. J Med Genet. 1997;34:705–13.
Jungbluth H. Multi–minicore disease. Orphanet J Rare Dis. 2007;2:1–11
Li AM, Au CT, Ng SK, Abdullah VJ, Ho C, Fok T. Natural history and predictors for progression of mild childhood obstructive sleep apnoea. Thorax. 2010;65:27–31.
Rosen CL. Síndrome de apnea obstructiva durante el sueño en niños: controversias en diagnóstico y tratamiento. Clin Pediatr North Am. 2004;51 (1):145–57.
de Miguel J, Villa JR, Blanco J, Neira MA, Vecchi AA. Utilidad de la pulsioximetría para detectar el síndrome de apnea obstructiva del sueño. Acta Pediatr Esp. 1998;56:557–62.
Sharma MC, JD, Sarkar C, Goebel HH. Congenital myopathies: a comprehensive update of recent advancements. Acta Neurol Scand. 2009:119:281–92.
Kaditis A, Kheirandish–Gozal L, Gozal D. Algorithm for the diagnosis and treatment of pediatric OSA: A proposal of two pediatric sleep centers. Sleep Medicine. 2012;13:217–27.
American Thoracic Society. Standards and indications for cardiopulmonary sleep studies in children. Am J Respir Crit Care Med. 1996;153:866–78.
Katz Eliot S, D'Ambrosio CM. Pathophysiology of Pediatric Obstructive Sleep Apnea. Proc Am Thorac Soc. 2008;5:253–62.