Myasthenia gravis complicating the surgical management of achondroplasia: a case-based update

• Published in: Child's nervous system Vol. 38; no. 10; pp. 1855 - 1859
• Main Authors: Afshari, Fardad T., Parida, Amitav, Debenham, Phillip, Solanki, Guirish A.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.10.2022
• Subjects: Achondroplasia - complications; Achondroplasia - surgery; Anesthetics; Azathioprine; Case-based Review; Child; Constriction, Pathologic - complications; COVID-19; Female; Humans; Medicine; Medicine & Public Health; Myasthenia Gravis - complications; Myasthenia Gravis - surgery; Neurosciences; Neurosurgery; Nucleotides; Pandemics; Pyridostigmine Bromide; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Cholinergic; Spinal Cord Compression - etiology; Achondroplasia; Dwarfism; Lumbar stenosis; Myasthenia gravis
• ISSN: 0256-7040; 1433-0350; 1433-0350
• DOI: 10.1007/s00381-022-05617-1

Background Achondroplasia is the commonest skeletal dysplasia of autosomal dominant inheritance caused by “gain of function” mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Foramen magnum compression due to accelerated ossification and spinal canal stenosis secondary to reduced interpedicular distance is a hallmark of achondroplasia, driven by G380R nucleotide pair substitution. In severe cases, limb weakness and neurogenic claudication will require surgical decompression. Rarely, a neurological condition may mimic the compressive spinal dysfunction and therefore, non-surgical causes must also be considered in cases of acute neurological deterioration in children with achondroplasia. Myasthenia gravis (MG) is an autoimmune condition resulting in fatigable muscle weakness. There are no reported cases of myasthenia gravis in achondroplasia in the literature. Results We report a child with achondroplasia scheduled for decompressive surgery for severe lumbar canal stenosis presenting with neurological claudication and knee weakness. While waiting for surgery during the COVID-19 pandemic, she developed generalized fatigability and severe weakness raising concerns of acute worsening of cord compression. Urgent investigations ruled out spinal cord compression but identified an unexpected concurrent myasthenia gravis with positive antibodies to acetylcholine receptors. The surgical intervention was postponed averting the potential risk of life-threatening anaesthetic complications. She was successfully managed with a combination of pyridostigmine, steroids, azathioprine, and plasma exchange. Conclusion We report the first case of myasthenia gravis in achondroplasia and review implications in the management.