2024 FSA Podium and Poster Abstracts
P054: CASE REPORT: OROPHARYNGEAL BLEEDING IN A MIDDLE-AGED MAN WITH WERDNIG-HOFFMAN DISEASE
Amal Akhtar, OMSIII1; Crystal Barroca, OMSIII1; Shivraj Patel, MD, PGY2; Mohammed Ibrahim Ahmed, DO, PGY2; Shadi Tarazi, MD2; 1Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine; 2Palmetto General Hospital
Introduction/ Background: Spinal muscular atrophy (SMA) is a group of hereditary diseases that damages nerves in the brain and spinal cord causing loss of skeletal muscle activity such as speaking, walking, swallowing, and breathing. The most common form of SMA is caused by a mutated or missing gene called the survival motor neuron gene 1 (SMN1). There are four main types of SMA with type 1 having the worst prognosis. Type 1 SMA also called Werdnig-Hoffman disease usually begins in infants before 6 months of age and causes shortening of muscles and tendons. These infants usually don’t survive past 2 years of age.
Methods: This is the case of a 41-year-old Hispanic male with a past medical history of SMA type 1, and chronic hypoxemic respiratory failure status post tracheostomy that presented to the emergency department (ED) with his mother due to an episode of oropharyngeal bleeding, requiring intensivist care for management of acute respiratory distress. Patient is bed-bound, non-verbal, and has been dependent on a ventilator through a tracheostomy tube since the age of 2. Vital signs: temperature 100.2°F, heart rate 120 bpm, respiratory rate 32 rpm, blood pressure 127/92 mmHg. Notable labs: WBC 21.2, platelets 478, potassium 5.2, CO2 17. A CT of the chest showed no obvious opacities; however, findings could indicate reactive versus viral airway disease. A CTA demonstrated consolidations in the middle-left lung with near complete occlusion of the left mainstem bronchus. Initial electrocardiogram showed diffuse ST depression but negative troponins.
Results: Infectious Disease was consulted for sepsis while pending nasopharyngeal cultures and ampicillin-sulbactam was started empirically. Cultures resulted positive for pseudomonas, likely due to colonization. Frequent suctioning over the years, resulted in substantial granulated mucosa, evident on bronchoscopy. Saline was used to control bleeding and hemoptysis visible in the right upper and left upper lobes. Dehydration and hypernatremia (Na 147) improved after potassium repletion and free water every 4 hours. Clinically, there was no evidence of pneumonia or other infections. It was recommended to continue off antimicrobials due to the suspicion of fever and reactive leukocytosis resulting from the bleeding. Patient was discharged with home health care.
Figure 1: Friable mucosa with ulcerations visible on initial bronchoscopy, left mainstem bronchus.
Discussion/Conclusion: This is a unique case of oropharyngeal bleeding in a 41-year-old male with infantile Werdnig-Hoffman disease. Although the patient surpassed his life expectancy by almost 4 decades due to a chronic tracheostomy tube and access to professional ventilatory care at home because of his mother, it has not been without complications. Prolonged use of the tracheostomy tube and high pressure on the airway mucosa has made the tissue friable leading to ulcers and chronic bleeding. The chronic ventilation also makes him susceptible to recurrent infections. This patient is very rare and one of the few people in the world to make it to the age of 41 with this devastating disease. However, this case does raise some ethical issues pertaining to his quality of life.