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|LETTERS TO EDITOR
|Year : 2018 | Volume
| Issue : 2 | Page : 545-547
Walking with the ventilator: A rare case of Pompe's disease with a review of literature
Neetu Ramrakhiani, Khusboo Agarwal, Ankit Bansal
Department of Neurology, Fortis Escorts Hospital, Jaipur, Rajasthan, India
|Date of Web Publication||15-Mar-2018|
Dr. Neetu Ramrakhiani
Department of Neurology, Fortis Escorts Hospital, Jaipur, Rajasthan
Source of Support: None, Conflict of Interest: None
|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
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.
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.
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., 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.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Table 1], [Table 2]