August 2020 Imaging Case of the Month: Piecing Together a Cause for Multisystem Abnormalities

Prasad M. Panse MD

Clinton E. Jokerst MD

Michael B. Gotway MD

Department of Radiology

Mayo Clinic Arizona

Scottsdale, AZ USA

Clinical History: A 65-year-old woman with chronic hoarseness and dyspnea now presents with complaints of diarrhea and bloating. The patient indicated her dyspnea had developed over the previous year, now occurring after one flight of stairs. The patient also complains of some substernal burning after waling 2-3 blocks. Her past medical history was largely unremarkable, and her past surgical history included only a cesarean section and carpal tunnel surgery. She has no allergies and her medications included thyroxine, fluoxetine, and a steroid inhaler. She was a previous smoker for 8 years, quitting 30 years ago. Upon directed questioning, the patient also complains of generalized weakness and 13-14 lbs. weight loss in the previous year.

Physical examination showed normal vital signs and was remarkable only for atrophy of the patient’s right calf muscles, which the patient claimed she knew about and had occurred over the previous year and a half. The neurologic examination was entirely normal. The examining physician noted that the patient’s tongue appeared somewhat enlarged and reddened, but was not coated and midline upon protrusion.

The patient’s complete blood count and serum chemistries showed all values within the normal range except for a serum albumin level of 2.9 gm/dL (normal, 3.5-5 gm/dL). Her erythrocyte sedimentation rate was mildly elevated at 55 mm/h (normal, 0-29 mm/hr). The patient was referred for chest radiography (Figure 1).

Figure 1. Frontal (A) and lateral (B) chest radiography.

Which of the following statements regarding the chest radiograph is most accurate? (Click on the correct answer to be directed to the second of nine pages)

1. The chest radiograph shows mediastinal and peribronchial lymph node enlargement
2. The chest radiograph shows multifocal basal consolidation
3. The chest radiograph shows normal findings
4. The chest radiograph shows numerous small nodules
5. The chest radiograph shows small bilateral pleural effusions

Cite as: Panse PM, Jokerst CE, Gotway MB. August 2020 imaging case of the month: piecing together a cause for multisystem abnormalities. Southwest J Pulm Crit Care. 2020;21(2):23-34. doi: https://doi.org/10.13175/swjpcc045-20 PDF 

Medical Image of the Month: Late-Onset Pompe Disease

Figure 1. Non-contrasted CT scans. A: Chest CT demonstrates a large mucous plug in the left mainstem bronchus (blue arrow) resulting in complete collapse of the left lung. There is near complete fatty replacement of the musculature of the shoulder girdles except for a small residual portion of the left infraspinatus muscle (red arrow). B: Abdominal CT demonstrates fatty replacement of the rectus abdominis musculature (red arrows) and lumbar musculature (blue arrows) consistent with the patient’s history of Pompe disease. C: Pelvic CT demonstrates near complete fatty replacement of the muscular compartments of the thigh except for residual portions of the bilateral sartorius muscles (blue arrows).

Clinical Presentation: A 63-year-old lady with a past medical history significant for late-onset Pompe disease complicated by chronic hypoxemic and hypercarbic respiratory requiring continuous mechanical ventilation via a tracheostomy tube presented to the emergency room from her care facility with worsening hypoxemia. She had been feeling poorly for three days prior to her presentation with fevers, chills, and thicker secretions from her tracheostomy tube with routine suctioning.

On arrival, she was febrile with a temperature of 39 °C and had diminished breath sounds on the left. Her lab work demonstrated a leukocytosis along with an increase in her creatinine consistent with acute kidney injury. CT scans of the chest, abdomen, and pelvis (Figure 1) demonstrated collapse of the left lung secondary to a large mucous plug in the left mainstem bronchus and fatty replacement of most of her visualized skeletal musculature consistent with her diagnosis of Pompe disease. Sputum cultures grew Pseudomonas aeruginosa. Through a combination of fluid resuscitation, antibiotics, and aggressive chest physiotherapy her clinical condition improved to the point that she was able to return to her care facility.

Discussion: Pompe disease results from a deficiency of acid alpha-glucosidase (GAA) which leads to the accumulation of glycogen resulting in tissue destruction (1,2). Adult patients present with progressive, proximal weakness in a limb-girdle distribution (particularly the hip flexors) along with respiratory insufficiency secondary to diaphragmatic involvement (3,4). Some patients may require noninvasive respiratory support and may progress to requiring mechanical ventilation (5). Diagnosis is made by clinical history and electromyogram. The rate of progression and sequence of respiratory and skeletal involvement vary substantially. Intravenous enzyme replacement therapy with alglucosidase alfa has shown efficacy for late-onset Pompe disease. Gene therapy is under investigation. In untreated patients with late-onset disease, the estimated 5-year survival is 95% and 40% at 30 years (6).

Zachary Hernandez MD, Kelly Wickstrom DO, and Tammer El-Aini MD.

Department of Pulmonary Medicine and Critical Care

University of Arizona College of Medicine

Tucson, AZ USA

References

1. Hirschhorn R, Reuser A. Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency. In: The metabolic and molecular bases of inherited disease, Scriver C, Beaudet A, Sly W, Valle D (Eds), McGraw-Hill, New York 2001. p.3389.
2. Raben N, Plotz P, Byrne BJ. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med. 2002 Mar;2(2):145-66. [CrossRef] [PubMed]
3. Engel AG. Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain. 1970;93(3):599-616. [CrossRef] [PubMed]
4. Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, van der Ploeg AT. The natural course of non-classic Pompe's disease; a review of 225 published cases. Neurol. 2005 Aug;252(8):875-84. [CrossRef] [PubMed]
5. Mellies U, Stehling F, Dohna-Schwake C, Ragette R, Teschler H, Voit T. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology. 2005 Apr 26;64(8):1465-7. [CrossRef] [PubMed]
6. van der Meijden JC, Güngör D, Kruijshaar ME, Muir AD, Broekgaarden HA, van der Ploeg AT. Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease. J Inherit Metab Dis. 2015 May;38(3):495-503. [CrossRef] [PubMed]

Cite as: Hernandez Z, Wickstrom K, El-Aini T. Medical image of the month: late-onset Pompe disease. Southwest J Pulm Crit Care. 2020;20(4):124-5. doi: https://doi.org/10.13175/swjpcc022-20 PDF