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Table of Contents    
Year : 2018  |  Volume : 66  |  Issue : 2  |  Page : 545-547

Walking with the ventilator: A rare case of Pompe's disease with a review of literature

Department of Neurology, Fortis Escorts Hospital, Jaipur, Rajasthan, India

Date of Web Publication15-Mar-2018

Correspondence Address:
Dr. Neetu Ramrakhiani
Department of Neurology, Fortis Escorts Hospital, Jaipur, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.227264

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How to cite this article:
Ramrakhiani N, Agarwal K, Bansal A. Walking with the ventilator: A rare case of Pompe's disease with a review of literature. Neurol India 2018;66:545-7

How to cite this URL:
Ramrakhiani N, Agarwal K, Bansal A. Walking with the ventilator: A rare case of Pompe's disease with a review of literature. Neurol India [serial online] 2018 [cited 2020 Jun 6];66:545-7. Available from:


Neuromuscular weakness is a common presentation of the patients coming for consultation to the neurologists and general physicians. Severe muscle weakness can produce respiratory failure due to the inefficiency of ventilatory muscles. The task of determing the etiology becomes more difficult when an undiagnosed patient is directly wheeled in from the emergency room and requires an immediate mechanical ventilation.

Our patient, a 55-year old gentleman, was admitted with a history of severe respiratory distress. He had been symptomatic for one year with dyspnea on exertion, which led to orthopnea and inability to sleep in the supine position. He had a history of early morning headaches and fatigue. The disease worsened with an inability to carry out activities of daily living. He noticed some distal weakness in the right hand since previous six months, along with similar complaints in the left hand, although to a lesser extent. He also had mild difficulty in getting up from the squatting position. He noticed slipping of footwear from his feet. He had diplopia for a few days six months back, which had resolved by itself. Cardiac work-up was done elsewhere which revealed a normal electrocardiograph, echocardiogram, and coronary angiogram. He had mild diabetes and was hypertensive for the last seven years. He also was seen by a chest physician and no obvious respiratory cause of illness was found. On examination, the patient was conscious, tachypneic, with a blood pressure of 159/80 and respiratory rate of 30 breaths per minute. His eye closure was adequate, and his eye movements were also normal. He had bulbar weakness without any tongue fasciculations, and the proximal power was 4/5 in all the four limbs, with the distal left leg power being 3/5. Deep tendon reflexes (DTR) were hypoactive in all four limbs. Within an hour of admission, the patient developed respiratory distress with type-2 pattern respiratory failure and had to be intubated and ventilated. His work-up revealed borderline raised creatinine phosphokinase (CPK) levels of 200 IU and borderline raised liver function tests. The differential diagnosis of myasthenia gravis, polyradiculoneuropathy, and motor neuron disease were considered. Electrophysiology revealed a mild sensory motor neuropathy of an axonal nature. Repetitive nerve stimulation revealed decrements of up to 8–10% on supramaximum stimulation in the deltoid muscle. The neuropathy was mild and thought to be due to underlying diabetes. Acetylcholinesterase antibodies were sent, and the patient was offered plasma exchange (PLEX) as a treatment modality. Once he agreed to this treatment, he underwent five cycles of PLEX without having any clear benefit. Acetylcholine receptor antibodies were found to be negative on examination, so antiMusK antibodies were also sent, which also turned out to be negative. Anti-nuclear antibody, cytoplasmic antineutrophil cytoplasmic antibodies and perinuclear anti-neutrophil cytoplasmic antibodies were also negative.

The clinical course was complicated by recurrent lung collapse, for which bronchoscopy was done, which revealed inflamed wall of the right main bronchus and segmental bronchi. High-resolution computerized tomography (HRCT) of the chest with pulmonary embolism protocol was done which revealed fibroatelectic changes with some pleural thickening in the right upper and bilateral basal segment. Electromyography revealed mixed neurogenic and myogenic pattern, although no myotonic discharges were seen. Possibility of motor system degeneration was also kept although there were no upper motor neuron signs. Test for Pompe's disease was sent. Results including assay for acid alpha glucosidase was low with the value being 3 pmol/punch/h (normal range, 7.4–50). On genetic testing, acid alpha-glucosidase (GAA) gene mutations were detected in a homozygous state confirming the diagnosis of Pompe's disease. The patient remained ventilated during the entire duration of his stay with us and was discharged on home ventilation. He was ambulatory and could walk unsupported; yet, he required ventilatory support.

Pompe's disease (acid maltase deficiency), first identified as a lysosomal storage disease, is autosomal recessive and has a low prevalence and a wide range of symptoms. It is also classified as glycogen storage disease type 2. [Table 1] illustrates the important milestones of the disease.
Table 1: Important articles in the evolution of Pompe's disease

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There is very scanty data from India regarding this disease. [Table 2] illustrates important Indian publications, mainly in the form of case reports in view of the rarity of this disease.
Table 2: Indian data on Pompe's disease

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Neuromuscular weakness can be encountered in the intensive care unit, both of primary neurological and non-neurological origin. Among the subacute or chronic causes include myasthenia gravis, motor neuron disease, critical illness myoneuropathy, myelitis, multiple sclerosis, muscular dystrophies, and vasculitis. Pompe's disease, although more common in children, sometimes presents in adults with progressive limb girdle distribution weakness especially involving the hip flexors in the earliest stage of the disease. This weakness in association with diaphragmatic weakness leads to respiratory involvement early in the disease course.[13],[14] It distinguishes Pompe's disease from other causes where respiratory involvement occurs only after loss of ambulation. Cardiac and hepatic involvement are usually uncommon. In today's date, it is important to suspect and identify patients with Pompe's disease as enzyme replacement therapy is available for treatment. Its unusual clinical feature, where selective respiratory involvement predates the proximal muscle weakness, is the key to its identification, like the clinical presentation in our patient, who at the time of discharge, was “walking with the ventilator.”

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Pompe JC. Over idiopatische hypertrophie van het hart. Ned Tijdschr Geneedkd 1933;76:304-12.  Back to cited text no. 1
Bischoff G. Zum klinischen Bild der Glykogen-Speicherungs-Krankheit (Glykogenose) Zeitschrift fu Kinderheilkunde 1932;52:722-5.  Back to cited text no. 2
Putschar M. Uber angeborene Glykogenspeicher-Krankheit des herzens. “Thesaurismosis glycogenica” (v. Gierke) Beitr Pathol Anat Allg Pathol 1932;90:222.  Back to cited text no. 3
Hers HG. Alpha-glucosidase deficiency in generalize glycogen storage disease (Pompe's disease) Biochem J 1963;86:11-6.  Back to cited text no. 4
Van Hove JL, Yang HW, Wu JY, Brady RO, Chen YT. High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease. Proc Natl Acad Sci U S A 1996;93:65-70.  Back to cited text no. 5
Pellegrini N, Laforet P, Orlikowski D, Pellegrini M, Caillaud C, Eymard B, et al. Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease. Eur Respir J 2005;26:1024-31.  Back to cited text no. 6
Guimarães MJ, Winck JC, Conde B, Mineiro A, Raposo M, Moita J, et al. Prevalence of late-onset Pompe disease in Portuguese patients with diaphragmatic paralysis - DIPPER study. Rev Port Pneumol 2017;23:208-15.  Back to cited text no. 7
Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 2016;87:295-8.  Back to cited text no. 8
Lingappa L, Rama Devi R, Dheeraj A, Rehder C, Kishnani P. Pompe disease- experience from South India. BMC Musculoskelet Disord 2013;14(Suppl 2):P23.  Back to cited text no. 9
Jegadeeswari A, Amuthan V, Janarthanan RA, Murugan S, Balasubramanian S. Two cases of Pompe's disease: Case report and review of literature. Indian Heart J 2012;64:214-6.  Back to cited text no. 10
Huded V, Bohra V, Prajapati J, DeSouza R, Ramankutty R. Stroke in young-dilative arteriopathy: A clue to late-onset Pompe's disease? J Stroke Cerebrovasc Dis 2016;25:50-2.  Back to cited text no. 11
Kumbar V, Simha J, Gundappa PK. Anaesthetic management of a patient with Pompe's disease for kyphoscoliosis correction. Indian J Anaesth 2016;60:349-51.  Back to cited text no. 12
[PUBMED]  [Full text]  
Lee WC. Two eminently treatable genetic metabolic myopathies. Neurol India 2008;56:333-8  Back to cited text no. 13
Beltran P, Howard JF Jr, Chahin N. Pearls and oysters: Clues to the diagnosis of adult onset acid maltase deficiency. Neurology 2014;82:e73-5.  Back to cited text no. 14


  [Table 1], [Table 2]


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