Myasthenia gravis complicating the surgical management of achondroplasia: a case-based update.
Achondroplasia
/ complications
Anesthetics
Azathioprine
COVID-19
Child
Constriction, Pathologic
/ complications
Female
Humans
Myasthenia Gravis
/ complications
Nucleotides
Pandemics
Pyridostigmine Bromide
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Cholinergic
Spinal Cord Compression
/ etiology
Achondroplasia
Dwarfism
Lumbar stenosis
Myasthenia gravis
Journal
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
ISSN: 1433-0350
Titre abrégé: Childs Nerv Syst
Pays: Germany
ID NLM: 8503227
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
received:
01
06
2022
accepted:
23
07
2022
pubmed:
31
7
2022
medline:
4
10
2022
entrez:
30
7
2022
Statut:
ppublish
Résumé
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. 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. We report the first case of myasthenia gravis in achondroplasia and review implications in the management.
Sections du résumé
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.
Identifiants
pubmed: 35908138
doi: 10.1007/s00381-022-05617-1
pii: 10.1007/s00381-022-05617-1
pmc: PMC9362015
doi:
Substances chimiques
Anesthetics
0
Nucleotides
0
Receptors, Cholinergic
0
Receptor, Fibroblast Growth Factor, Type 3
EC 2.7.10.1
Pyridostigmine Bromide
KVI301NA53
Azathioprine
MRK240IY2L
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1855-1859Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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