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Multiple-System Atrophy with Cerebellar Predominance Presenting as Respiratory Insufficiency and Vocal Cords Paralysis. Background: Multiple system atrophy.

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Presentation on theme: "Multiple-System Atrophy with Cerebellar Predominance Presenting as Respiratory Insufficiency and Vocal Cords Paralysis. Background: Multiple system atrophy."— Presentation transcript:

1 Multiple-System Atrophy with Cerebellar Predominance Presenting as Respiratory Insufficiency and Vocal Cords Paralysis. Background: Multiple system atrophy (MSA) is a rare and neurodegenerative disease. The most common manifestation occurs by sporadic, progressive adult onset, usually more than 30 years with autonomic dysfunction, orthostatic decrease of blood pressure, cerebellar syndrome and has frequently been misdiagnosed as idiopathic Parkinson disease. The average age of onset is about 53 (36-74) years (1-2). Between 4% and 22% of the brains in parkinsonian brain banks have MSA after post mortem autopsy. The estimated annual incidence of MSA is about 0-6 per per year, reaching 3 per per year in the population older than 5 th decade. Prevalence ranges from 1-9 to 4-9 per inhabitants (3). The disease has a poor prognosis with average overall survival about five (range 1–11) years (1-4). The diagnosis of MSA is based on clinical criteria and can be supported by neuro-imaging (5). For possible diagnostic of MSA-c the patient should have at least one of the following criteria: parkinsonism, atrophy on resonance imaging of putamen, middle cerebellar peduncle, or pons, hypometabolism on 18F-2-fluoro-deoxy-D-glucose by photon emission computer tomography (DG-PET) in putamen or pre synaptic nigrostriatal dopaminergic denervation on single photon emission computer tomography (SPECT) or PET. The aim of this article is to report a case of a patient that has been diagnosed of multiple system atrophy with cerebellar predominance after presenting respiratory failure due to vocal cords paralysis. Case Report: Ramon A. B. De Mello 1 ; Diana Ferreira 2 ; José Manuel Dias da Costa 2 ; Maria José Rosas 3 ; João Manuel Quinaz 1. Internal Medicine 1, Neurorradiology 2 and Neurology 3 Department, Hospital São João, Porto, Portugal. Discussion: MSA is a rare disease, difficult to diagnose and presenting motor and autonomic deficits. It was first described by Gram and Oppenheimer in 1969 and redefined in the late 1990s as a progressive neurodegenerative disease of undetermined cause, occurring sporadically and causing parkinsonism, cerebellar, pyramidal, autonomic and urological dysfunction in any combination. The presence in post-mortem of glial cytoplasmic inclusions is characteristic. The parkinsonism sub-type more common and sometimes is misdiagnosed. The cerebellar sub-type is less common in caucasian population and ordinarily can be lethal if not early diagnosed. It is characterized by cerebellar ataxia in 64% of cases (47% in MSA-P) accompanied by gait ataxia, as presented in this case, (86%), limb ataxia (78%), ataxic dysarthria (69%) (3). Vocal cord paralysis is unusual in MSA, but must be taken into consideration. In this case, the patient presented clinical and imaging criteria that could establish the sudden possible diagnosis resulting in optimized approach. Instead, the main complain status, resulting of respiratory insufficiency and vocal cords paralysis, which first conducted the patient to the Emergency Department, is a rare manifestation and only few articles related can be found in literature (6-10). In 2006, Glass et al (10) reported in series of 6 cases of irregularities in respiration that may occasionally arise early in MSA and may be clues to diagnosis. Assessment of respiratory function, both during awake and asleep periods, may be helpful to successfully diagnose patients with atypical parkinsonism, ataxia, or dysautonomia (10). In addition, he still related that patients with MSA often have disturbances of respiratory rhythm during sleep and could explain why patients with MSA may die of respiratory insufficiency despite tracheostomy. On the other hand, cardiac arrhythmias are often noted in association with sleep-related disordered breathing, but sinus arrest is predominantly associated with obstructive sleep apnea (9). So, this could explain why this disease has a poor overall survival. However, the mechanism underlying nocturnal sudden death in patients with MSA remains unclear. It may be explained by upper airway obstruction, such as vocal cord abductor paralysis; an impairment of the respiratory center, such as Cheyne-Stokes respiration; or an impaired hypoxemic ventilatory response (11). It was reported by laryngeal electromyography that patients with multiple system atrophy and autonomic failure can present unequivocal evidence of denervation of the posterior cricoarytenoid, partial denervation in the cricopharyngeal sphincter, in the interarytenoid, crico-pharyngeal sphincter and may have respiratory obstruction requiring a tracheostomy, as happened in our patient. The cause of the denervation is likely to be at the level of the nucleus ambiguous (12). Conclusion: Multiple-system atrophy may sometimes present itself as primary respiratory insufficiency or dysfunction, with initially mild motor and autonomic symptoms. Vocal cord paralysis can be the cause of this respiratory distress and when tracheostomy is performed soon it is possible to save the patient’s life. Therefore, unexplained respiratory insufficiency, bilateral vocal cord paralysis, or stridor should to be taken into consideration in the diagnosis of MSA. References 1.Swan L, Dupont J. Multiple system atrophy. Physical Therapy. 1999;79(5): Rehman H. Multiple system atrophy. British Medical Journal. 2001;77(908): Stefanova N, Bücke P, Duerr S, Wenning G. Multiple system atrophy: an update. The Lancet Neurology. 2009;8(12): Wenning G, Colosimo C, Geser F, Poewe W. Multiple system atrophy. The Lancet Neurology. 2004;3(2): Finke C, Siebert E, Plotkin M, Wenning G, Reuter U. Multiple system atrophy masking multiple sclerosis. Clinical neurology and neurosurgery Cormican L, Higgins S, Davidson A, Howard R, Williams A. Multiple system atrophy presenting as central sleep apnoea. European Respiratory Journal. 2004;24(2): Comabella M, Montalban X, Serena J, Lozano M, Codina A. Early vocal cord paralysis in olivopontocerebellar atrophy. Journal of neurology. 1996;243(9): Lim Y, Kennedy N. Multiple system atrophy as a cause of upper airway obstruction. Anaesthesia. 2007;62(11): Aragane N, Katoh O, Yamada H, Kuroda Y, Maeyama T. Respiratory failure due to vocal cord dyskinesia in olivo-ponto-cerebellar atrophy. Chest. 1989;96(5): Glass G, Josephs K, Ahlskog J. Respiratory insufficiency as the primary presenting symptom of multiple-system atrophy. Archives of neurology. 2006;63(7): Shimohata T, Shinoda H, Nakayama H, Ozawa T, Terajima K, Yoshizawa H, et al. Daytime hypoxemia, sleep-disordered breathing, and laryngopharyngeal findings in multiple system atrophy. Archives of neurology. 2007;64(6): Guindi G, Bannister R, Gibson W, Payne J. Laryngeal electromyography in multiple system atrophy with autonomic failure. British Medical Journal. 1981;44(1):49. A 79 year old Caucasian woman, single, retired school teacher, with clinical history of systemic arterial hypertension, heart failure, snoring, hip prosthesis in 2006, congenital rubeola, without the left arm, sinusal bradycardia, and without relevant familiar history. Admitted in March 2010 complaining of gait ataxia that had persisted for 3 weeks, followed by dyspnea, unconsciousness during few minutes, periods of myotonia in the right arm, stridor, hypercapnia, respiratory acidosis Went to Intensive Unit Care and began non-invasive ventilation treatment with good clinical response EEG and TAC CE were without significants alterations. ORL: diagnosed by endoscopy vocal cords diminution of motility and paresis periods in midline position Restrictive pattern by spirometric parameters with Forced Vital Capacity (FVC) = 46%, (Forced Expired Volume in first second (FEV1) = 50%, Tiffeneau index (FEV1/FVC) = 89% and severe sleep apnea syndrome with apnea-hypopnea index = 50.2/h, Orthostatic arterial hypotension and stridor had worsened. Also periods of unconsciousness followed, as reported by resident physicians Nasal endoscopy was again performed and as result vocal cord paralysis was revealed in midline Thoracic TAC and bronchoscope technical: normal Patient had other crisis of stridor, agitation, tachypnea, respiratory insufficiency and respiratory acidosis requiring again non-invasive ventilation and after otolaryngology evaluation and subsequent tracheostomy in the Intensive Unit care Brain Magnetic Resonance Imaging (B-MRI) was performed and revealed atrophy of middle cerebellar peduncles and pons with the “hot cross bun sign” (figure 1) These imaging findings associated with the presence of these follow clinical criteria, as cerebellar ataxia, limb ataxia, orthostatic blood pressure decline and stridor that are compatible with Multiple System Atrophy with cerebellar predominance (MSA-c). She was reassessed by otolaryngology that still reported vocal cords paralysis (figure 2) and tracheostomy was kept permanently. The patient was discharged with stable clinical status. A B1 B2 C A F igure 1: MRI imaging’s showing the reported alterations. A) Hot cross sign. B1) cerebellar and B2) pons atrophy. C) Atrophy of middle cerebellum peduncles. F igure 2: Vocal cords paralysis reported in endoscopy. A B2 B1 C C


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