Postoperative acute respiratory failure caused by adult-onset Pompe disease

2016 ◽  
Vol 12 (1) ◽  
pp. 344-346
Author(s):  
Dingyu Tan ◽  
Jun Xu ◽  
Yi Yang ◽  
Ming Gu ◽  
Xuezhong Yu
Keyword(s):  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Pompe Disease ◽  
Adult Onset

scholarly journals Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report

2018 ◽  
Vol 13 ◽  
Author(s):  
Francesco Menzella ◽  
Luca Codeluppi ◽  
Mirco Lusuardi ◽  
Carla Galeone ◽  
Franco Valzania ◽  
...  
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Pompe Disease ◽  
Late Onset ◽  
Correct Diagnosis ◽  
Ventilatory Support ◽  
Diagnostic Process ◽  
Caucasian Woman ◽  
Enzyme Replacement

Background: Acute respiratory failure can be triggered by several causes, either of pulmonary or extra-pulmonary origin. Pompe disease, or type II glycogen storage disease, is a serious and often fatal disorder, due to a pathological accumulation of glycogen caused by a defective activiy of acid α-glucosidase (acid maltase), a lysosomal enzyme involved in glycogen degradation. The prevalence of the disease is estimated between 1 in 40,000 to 1 in 300,000 subjects. Case presentation: This case report describes a difficult diagnosis of late-onset Pompe disease (LOPD) in a 52 year old Caucasian woman with acute respiratory failure requiring orotracheal intubation and subsequent tracheostomy for long-term mechanical ventilation 24 h/day. Despite a complex diagnostic process including several blood tests, bronchoscopy with BAL, chest CT, brain NMR, electromyographies, only a muscle biopsy allowed to reach the correct diagnosis. Discussion: The most frequent presentation of myopathies, including LOPD, is proximal limb muscle weakness. Respiratory related symptoms (dyspnea on effort, reduced physical capacity, recurrent infections, etc.) and respiratory failure are often evident in the later stages of the diseases, but they have been rarely described as the onset symptoms in LOPD. In our case, a third stage LOPD, the cooperation between pulmonologists and neurologists was crucial in reaching a correct diagnosis despite a very complex clinical scenario due to different confounding co-morbidities as potential causes of respiratory failure and an atypical presentation. In this patient, enzyme replacement therapy with infusion of alglucosidase alfa was associated with progressive reduction of ventilatory support to night hours, and recovery of autonomous walking.

Acute respiratory failure revealing adult-onset Still's disease. Diagnostic value of low glycosylated ferritin level

2005 ◽  
Vol 25 (5) ◽  
pp. 766-768 ◽  
Author(s):  
Charlotte Biron ◽  
Arnaud Chambellan ◽  
Christian Agard ◽  
Michele Denis ◽  
Patrick Germaud ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Ferritin Level ◽  
Diagnostic Value ◽  
Adult Onset Still’S Disease ◽  
Adult Onset ◽  
Still’S Disease ◽  
Still's Disease ◽  
Adult Onset Still's Disease

scholarly journals Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure

Medicine ◽  
2018 ◽  
Vol 97 (25) ◽  
pp. e11162 ◽  
Author(s):  
Zhanqi Zhao ◽  
Chan-Ching Chu ◽  
Mei-Yun Chang ◽  
Hao-Tai Chang ◽  
Yeong-Long Hsu
Keyword(s):  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Methylmalonic Acidemia ◽  
Adult Onset

scholarly journals 128 Late-onset pompe disease (LOPD) presenting with fulminant hypercapnic respiratory failure

2019 ◽  
Vol 90 (e7) ◽  
pp. A41.2-A41
Author(s):  
Leon S Edwards ◽  
Michel Tchan ◽  
Kate M Crossley ◽  
Brendon Yee ◽  
Judith M Spies
Keyword(s):  
Respiratory Failure ◽  
Pompe Disease ◽  
Late Onset ◽  
Left Ventricular ◽  
Chronic Respiratory Failure ◽  
Cerebral Stroke ◽  
List Type ◽  
Adult Onset ◽  
Hypercapnic Respiratory Failure ◽  
Initial Symptoms

IntroductionWe report a case of LOPD with acute-on-chronic respiratory failure.CaseA 57 year-old retired farmer presented with obtundation requiring intubation. He reported a 4 month history of hypophonia, intermittent diplopia, lethargy and orthopnea.Initial arterial blood gas measurement displayed acute-on-chronic hypercapnic respiratory failure (pH 7.19, pO2 98 mmHg, pCO2 112 mmHg, HCO3 43 mmol/L). Muscle biopsy was suggestive of LOPD with myofibres demonstrating acid phosphatase and periodic acid-schiff positive vacuoles. Diagnosis was confirmed with low α-glucosidase activity on dried blood spot (0.4umol/h/L) and elevated urinary tetrasaccharide level (5 mmol/mol creatinine). Mutation analysis of the GAA gene demonstrated two known pathogenic mutations (c.-32–13T>G and c.1075+1G>T). With improved ventilation, he was able to be extubated. The only respiratory support on discharge was overnight bilevel positive airway pressure ventilation.ConclusionLOPD is a rare autosomal recessive metabolic disorder caused by a deficiency in acid α-glucosidase. This leads to intra-lysomal accumulation of glycogen in tissues. Particularly in the late form, there is significant phenotypic variability.1 Diagnosis remains challenging. Cases have been reported with a range of initial symptoms including stroke,2 syncope3 and chronic respiratory failure.4 Acute on chronic respiratory failure at presentation is rare.Enzyme replacement therapy has been shown to improve both morbidity and mortality in LOPD.5 Earlier treatment is associated with better outcomes.6 Prompt recognition of cases is paramount. Unexplained acute-on-chronic respiratory failure should raise the possibility of this condition. In such cases, management of ventilation is vital.ReferencesChan J, et al. The emerging phenotype of late-onset Pompe disease: A systematic literature review. Mol Genet Metab 2017;120(3):163–172.Hossain MA, et al. A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy. J Stroke Cerebrovasc Dis 2018;27(11):3046–3052.Walczak-Galezewska M, et al, Late-onset Pompe disease in a 54 year-old sportsman with an episode of syncope: a case report. Eur Rev Med Pharmacol Sci 2017;21(16):3665–3667.O’Callaghan C, et al, Adult-onset Pompe disease presenting with insidious hypercapnic respiratory failure. Respirol Case Rep 2016;4(5):e00178.Schoser B, S A, Kanters S, Hamed A, Jansen J, Chan K, Karamouzian M, Toscano A. Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol 2017;264(4):621–630.Chien YH, HW, Lee NC. Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol 2013;54(4):219–227.

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