Case Report: Laryngospasm as Initial Manifestation of Amyotrophic Lateral Sclerosis in a Long-Survival Patient With Heterozygous p.D90A – SOD1 Mutation

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Although its etiology is still unknown, many genes have been found to be implicated in ALS pathogenesis. The Cu/Zn superoxide dismutase (SOD1) gene was the first to be identified. Currently, more than 230 mutations in the SOD1 gene have been reported. p.D90A (p. Asp90Ala) is the most common SOD1 mutation worldwide. It shows both autosomal and recessive inheritance in different populations. To date, five Italian patients with the heterozygous p.D90A mutation have been reported. None of them complained of laryngological symptoms as the initial manifestation of ALS, although they had atypical clinical features. We describe a long-survival patient carrying heterozygous p.D90A mutation who presented with severe laryngospasm due to bilateral vocal cord paralysis. We suggest that genetic analysis may help to diagnose ALS with insidious onset like hoarseness, laryngospasm, and other type of voice disturbances.

Bilateral vocal cord paralysis caused by accidental button battery ingestion in children: A case report and literature review

Button battery ingestion in pediatric populations is a common occurrence with severe sequelae. Multiple case reports have established the occurrence of death, fistula formation, mucosal erosion, esophageal perforation, and bleeding post-ingestion of button batteries. However, there is a gap in the literature on the occurrence of bilateral vocal cord paralysis post-lithium battery ingestion. We present a case in which a 12-month-old male developed bilateral vocal cord paralysis following ingestion of a button battery. We compare our case to eleven other reports that exist in the literature based on age, sex, time until removal, clinical presentation, day upon which vocal cord paralysis developed, anatomic location, and post-operative course. We conclude that bilateral vocal cord paralysis is a time-sensitive complication which requires prompt diagnosis. Any child with stridor following button battery ingestion should undergo consultation with pediatric otolaryngology immediately. In addition, long-term follow-up is necessary to evaluate return of normal vocal cord function.

Progressive encephalomyelitis with rigidity and myoclonus (PERM)

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a subtype of stiff-person syndrome (formerly stiff-man syndrome). It is rare and disabling, and characterised by brainstem symptoms, muscle stiffness, breathing issues and autonomic dysfunction. We describe a 65-year-old man who presented with odynophagia together with tongue and neck swelling, followed by multiple cranial nerve palsies culminating in bilateral vocal cord paralysis with acute stridor. He subsequently developed progressive generalised hypertonia and painful limb spasms. Serum antiglycine receptor antibody was strongly positive, but antiglutamic acid decarboxylase and other antibodies relating to stiff-person syndrome were negative. We diagnosed PERM and gave intravenous corticosteroids and immunoglobulins without benefit; however, following plasma exchange he has made a sustained improvement.

A rare cause of adult-onset bilateral vocal cord paralysis

A 72-year-old man initially presented to the ENT outpatient department after 20 years with increasing intermittent episodes of dyspnoea and stridor. Flexible nasendoscopy revealed bilateral vocal cord paralysis with the cords in a medial position. He subsequently underwent urgent tracheostomy. He has six similarly affected family members across three generations all requiring tracheostomy to maintain an adequate airway. Follow-up and genetic testing have revealed mutation of the dynactin 1 gene leading to distal hereditary motor neuropathy type 7b. This is a rare occurrence causing this condition to be reported in only three families previously throughout the world.

Bilateral vocal cord paralysis in Miller Fisher syndrome/Guillain-Barre overlap syndrome and a review of previous case series

Miller Fisher syndrome (MFS), an acute demyelinating neuropathy, is characterised by a triad of areflexia, ataxia and ophthalmoplegia. It is the most common variant of Guillain-Barre Syndrome (GBS). In about 5.6%–7.1% of MFS cases, patients also suffer from progressive motor weakness of the limbs. This condition is termed MFS/GBS overlap syndrome. Whether it is in MFS or GBS, bilateral vocal cord paralysis (BVCP) is a rare manifestation with limited cases reported in the literature. We report an extremely rare case where a 65-year-old man developed BVCP in an MFS/GBS overlap syndrome. We have also reviewed previous case reports in the literature for comparison.