Neuromuscular disease presenting with bilateral vocal cord paralysis


Topic:

Clinical Management

Poster Number: 28

Author(s):

Kathryn Fitzgerald, CPNP, DNP, HASSENFELD CHILDREN'S HOSPITAL AT NYU LANGONE

Now sixteen-year-old male presented at pediatric neurological clinic with frequent falls and speech delay at that age of four and frequent tripping since the age of three. He had a previous work up including electroencephalogram (EEG), brain magnetic resonance imaging (MRI) that were all normal. His working diagnoses was Charcot-Marie-Tooth disease. He presented to pediatric pulmonary clinic with complaints of worsening shortness of breath, wheezing, feeling of suffocation, and protracted wet coughs. Initial pulmonary function testing revealed FEV1 77%, possible mild restrictive lung disease. Bronchoscopy was done and revealed severe purulent bronchitis and glossoptosis. BAL cell count was extremely high (above 30,000 wbc/mcl) with severe neutrophilia but also with eosinophilia 5%. Chest computerized tomography (CT) done revealed scattered bronchiectasis. He eventually developed biphasic wheezing on exams. He was initially treated for asthma and purulent bronchitis. Over time, He was subsequently diagnosed with bilateral vocal cord paralysis and markedly narrowed airway, and treatment for asthma was discontinued. Genetic testing confirmed the diagnosis giant axonal neuropathy (GAN). Due to disease progression, tracheostomy was electively performed to enhance nighttime ventilation. Vocal cord paralysis is not commonly reported in GAN.